TERMIUM Plus^®

Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

... the suprachoroidal injection approach delivers the gene therapy payload via the potential space between the sclera and the choroid(suprachoroidal space, or SCS). This is a potentially favored injection site for gene therapy because it may reduce the likelihood of eliciting an immunologic response due to its unique location with respect to the blood-retina barrier while simultaneously permitting adequate gene expression to control the nAMD [neovascular age-related macular degeneration] disease process. Surgical access to the SCS can be facilitated by creation of a sclerotomy, followed by introduction of a catheter or cannula. Separately, and potentially of greater interest, is for suprachoroidal gene therapy to be delivered in the clinic setting by utilizing hypodermic needles or hollow microneedles.  1, record 1, English, - suprachoroidal%20gene%20therapy

Record number: 1, Textual support number: 2 CONT

gene therapy : The treatment of certain medical disorders, especially those caused by genetic anomalies or deficiencies, by introducing specific engineered genes into a patient's cells.  3, record 1, English, - suprachoroidal%20gene%20therapy

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 OBS

Thérapie qui consiste en l'injection de gènes dans la couche de la choroïde adhérant à la sclère dans le but de traiter une maladie rétinienne.  1, record 1, French, - th%C3%A9rapie%20g%C3%A9nique%20suprachoro%C3%AFdienne

Record 1,  Textual support,  Spanish

Record 2,  Textual support,  English

Record number: 2, Textual support number: 1 DEF

The treatment of certain medical disorders, especially those caused by genetic anomalies or deficiencies, by introducing specific engineered genes into a patient’s cells.  2, record 2, English, - gene%20therapy

Record number: 2, Textual support number: 1 CONT

Gene therapies can work by several mechanisms : replacing a disease-causing gene with a healthy copy of the gene; inactivating a disease-causing gene that is not functioning properly; or introducing a new or modified gene into the body to help treat a disease.  3, record 2, English, - gene%20therapy

Record 2,  Textual support,  French

Record number: 2, Textual support number: 1 DEF

Méthode thérapeutique qui vise à traiter certaines affections en intervenant sur le génome des cellules.  3, record 2, French, - th%C3%A9rapie%20g%C3%A9nique

Record number: 2, Textual support number: 1 OBS

thérapie génique : terme publié au Journal officiel de la République française le 22 septembre 2000.  4, record 2, French, - th%C3%A9rapie%20g%C3%A9nique

Record 2,  Textual support,  Spanish

Record number: 2, Textual support number: 1 DEF

Conjunto de los procesos destinados a la introducción in vitro o in vivo de un gen normal en células germinales o somáticas, en las que el mismo gen, anormal, provoca una deficiencia funcional, origen de una enfermedad.  3, record 2, Spanish, - terapia%20g%C3%A9nica

Record number: 2, Textual support number: 1 CONT

Terapia génica. Una técnica que se está desarrollando para tratar enfermedades hereditarias. El procedimiento implica reemplazar, manipular o suplementar los genes no funcionales, con genes funcionales.  4, record 2, Spanish, - terapia%20g%C3%A9nica

Record number: 2, Textual support number: 2 CONT

Los posibles usos de la tecnología genética están a veces divididos según el propósito: mejoramiento o terapia. El mejoramiento genético significa alterar los genes para mejorar los rasgos humanos o caraterísticas más allá de lo que se considera "normal" [...] Por contraste, la terapia genética significa alterar los genes que poseen mutaciones peligrosas para prevenir o curar enfermedades.  5, record 2, Spanish, - terapia%20g%C3%A9nica

Record 3,  Textual support,  English

Record number: 3, Textual support number: 1 CONT

Gene therapy for vision disorders is coming of age. The developments over the past decade in retinal gene therapy have shown that viral vectors can provide safe gene delivery to the retina and there is now hope that this treatment option can become a reality in clinical ophthalmology.  2, record 3, English, - retinal%20gene%20therapy

Record 3,  Textual support,  French

Record number: 3, Textual support number: 1 CONT

Certains vecteurs dérivés des virus adéno-associés sont actuellement les plus prometteurs pour le transfert de gènes thérapeutiques vers la rétine. [...] il a été démontré que l'administration sous-rétinienne d'AAV2 [sérotype 2 du virus adéno-associé] est sûre et efficace chez des enfants atteints d'une forme rare de cécité héréditaire, l'amaurose congénitale de Leber, ce qui suggère que la thérapie génique rétinienne par les virus adéno-associés pourrait être étendue avec succès à d'autres affections cécitantes.  2, record 3, French, - th%C3%A9rapie%20g%C3%A9nique%20r%C3%A9tinienne

Record 3,  Textual support,  Spanish

Record 4,  Textual support,  English

Record number: 4, Textual support number: 1 CONT

Intravitreal gene therapy represents an approach to treating retinal diseases by delivering therapeutic genes directly into the vitreous humor of the eye. This method uses a viral vector, often an adeno-associated virus(AAV), to carry genetic material into retinal cells. Once inside, the therapeutic genes are expressed to address genetic deficiencies or modify biological pathways, offering a long-term or potentially permanent treatment... for conditions like wet age-related macular degeneration(AMD), diabetic macular edema, and inherited retinal dystrophies.  2, record 4, English, - intravitreal%20gene%20therapy

Record 4,  Textual support,  French

Record number: 4, Textual support number: 1 OBS

Thérapie qui consiste en l'injection d'un gène à l'aide d'une aiguille dans la cavité vitréenne pour traiter une maladie rétinienne.  2, record 4, French, - th%C3%A9rapie%20g%C3%A9nique%20intravitr%C3%A9enne

Record 4,  Textual support,  Spanish

Record 5,  Textual support,  English

Record number: 5, Textual support number: 1 CONT

TALENs are a chimera of transcription activator-like effectors (TALEs) and restriction enzymes, predominantly Fok1 nuclease. The TALE proteins act as programmable DNA search engines while the Fok1 are the molecular scissors cutting the DNA target site.  4, record 5, English, - transcription%20activator%2Dlike%20effector%20nuclease

Record number: 5, Textual support number: 2 CONT

Transcription activator-like effector nucleases(TALENs) are restriction enzymes that bind to DNA based on its specificity and can be tailored to cut sequences of DNA. They are made by combining TAL [transcription activator-like] binding domains, which allows entry into a cell, and a DNA cleavage domain, which is helpful in gene editing. These can be tailored to bind to any targeted area in the genome to cut any desired specific location.  5, record 5, English, - transcription%20activator%2Dlike%20effector%20nuclease

Record 5,  Textual support,  French

Record number: 5, Textual support number: 1 CONT

Les nucléases TALEN dérivent de la molécule «transcription activator-like effectors» (TALE) [...] Les TALEN sont composées d'un domaine de reconnaissance de l'ADN TALE fusionné avec la nucléase Fok1.  2, record 5, French, - nucl%C3%A9ase%20effectrice%20de%20type%20activateur%20de%20transcription

Record 5,  Textual support,  Spanish

Record 6,  Textual support,  English

Record number: 6, Textual support number: 1 CONT

Since the early 20th century, scientists have discovered several types of "selfish genetic elements" that are present naturally in the genomes of many species. These naturally occurring genetic elements are able to enhance their own transmission relative to the rest of the genes in the genome regardless of whether their presence is neutral or even harmful to the individual organism as a whole, and thus they exhibit drive and are called "natural gene drives. "Examples of natural gene drives include homing endonuclease genes found in all forms of microbial life, transposable elements found in many plants and animals, and meiotic drive also found in various plants and animals.  4, record 6, English, - natural%20gene%20drive

Record number: 6, Textual support number: 1 OBS

gene drive : In English, a differentiation is sometimes made between a natural gene drive, a natural process of inheritance, and a synthetic gene drive, a bioengineered process. Consequently, it may be preferable to use the designation "natural gene drive" when referring to a natural process of inheritance.  5, record 6, English, - natural%20gene%20drive

Record 6,  Textual support,  French

Record number: 6, Textual support number: 1 OBS

natural gene drive; NGD; gene drive : Aucun équivalent français ne semble exister pour ce concept. En anglais, la désignation «natural gene drive» fait référence à un processus de transmission héréditaire naturel qui résulte dans une transmission asymétrique d'un élément génétique à la descendance d'un organisme.  4, record 6, French, - natural%20gene%20drive

Record 6,  Textual support,  Spanish

Record 7,  Textual support,  English

Record number: 7, Textual support number: 1 CONT

... adaptor proteins are proteins that have domains which associate multiple proteins and often also cytoskeletal scaffolding components. This association places proteins in proximity that allows direct interaction of the effector signals, which are often kinases but also may include proteins such as trafs that transmit signals by other mechanisms, including regulation of degradation of targets.  4, record 7, English, - adaptor%20protein

Record number: 7, Textual support number: 2 CONT

Adaptor proteins that play key roles in cellular signaling such as phosphorylation, dephosphorylation, signal transduction, organization of the cytoskeleton, cell adhesion, [and] regulation of gene expression(all distinct yet interacting systems).  5, record 7, English, - adaptor%20protein

Record 7,  Textual support,  French

Record number: 7, Textual support number: 1 DEF

Protéine dont la fonction est de relier deux ou plusieurs protéines différentes dans un complexe moléculaire.  4, record 7, French, - prot%C3%A9ine%20adaptatrice

Record number: 7, Textual support number: 1 CONT

Les protéines adaptatrices, bien que dépourvues d'activité enzymatique intrinsèque, jouent un rôle essentiel dans la biologie des cellules en régulant l'assemblage de complexes multimoléculaires de signalisation essentiels à la transmission intracellulaire des signaux extracellulaires reçus par la cellule.  5, record 7, French, - prot%C3%A9ine%20adaptatrice

Record number: 7, Textual support number: 1 OBS

protéine adaptatrice; PA : désignations et définition publiées au Journal officiel de la République française le 4 février 2021.  6, record 7, French, - prot%C3%A9ine%20adaptatrice

Record 7,  Textual support,  Spanish

Record 8,  Textual support,  English

Record number: 8, Textual support number: 1 DEF

A gene that suppresses the phenotypic expression of another gene, especially of a mutant gene.  4, record 8, English, - suppressor%20gene

Record 8,  Textual support,  French

Record number: 8, Textual support number: 1 DEF

Gène dont l'expression peut supprimer l'effet phénotypique d'un certain nombre de mutations présentes dans d'autres gènes.  3, record 8, French, - g%C3%A8ne%20suppresseur

Record number: 8, Textual support number: 1 OBS

gène suppresseur; suppresseur : désignations publiées au Journal officiel de la République française le 4 février 2021.  4, record 8, French, - g%C3%A8ne%20suppresseur

Record 8,  Textual support,  Spanish

Record 9,  Textual support,  English

Record number: 9, Textual support number: 1 CONT

Homologous recombination is that which we are taught about in introductory biology class. It is the crossing-over process observed during meiosis, though it occurs in bacteria as well. The process involves pairing up of similar DNA sequences, with then one sequence replacing the other, or indeed for meiotic crossing over, with the generation of now two recombinant strands, one for each chromosome homolog, rather than just one. In either case, key is that it is DNA that is highly similar in terms of DNA sequence that is being either replaced or swapped. This allows for a replacement of alleles following horizontal gene transfer, or allele swapping...  2, record 9, English, - homologous%20recombination

Record 9,  Textual support,  French

Record number: 9, Textual support number: 1 DEF

Recombinaison qui s'effectue par échange de segments d'ADN entre deux séquences identiques ou proches.  2, record 9, French, - recombinaison%20homologue

Record number: 9, Textual support number: 1 OBS

La recombinaison homologue intervient notamment dans la recombinaison génétique au cours de la méiose.  2, record 9, French, - recombinaison%20homologue

Record number: 9, Textual support number: 1 CONT

recombinaison homologue : désignation et définition publiées au Journal officiel de la République française le 4 février 2021.  3, record 9, French, - recombinaison%20homologue

Record 9,  Textual support,  Spanish

Record number: 9, Textual support number: 1 DEF

Intercambio de fragmentos de ADN entre las dos cromátidas no hermanas del mismo cromosoma durante la meiosis.  1, record 9, Spanish, - recombinaci%C3%B3n%20hom%C3%B3loga

Record 10,  Textual support,  English

Record number: 10, Textual support number: 1 DEF

... a fragment of DNA that is capable of migrating from one gene locus to another on the same or a different chromosome...  2, record 10, English, - transposon

Record 10,  Textual support,  French

Record number: 10, Textual support number: 1 DEF

Fragment d'ADN susceptible de se déplacer d'un endroit du génome à un autre.  2, record 10, French, - transposon

Record number: 10, Textual support number: 1 OBS

Un transposon est généralement composé des gènes nécessaires à sa mobilité et de deux courtes séquences répétées inverses qui les encadrent.  2, record 10, French, - transposon

Record number: 10, Textual support number: 2 OBS

Ne pas confondre avec le terme «élément transposable»; le «transposon» est un genre d'élément transposable.  3, record 10, French, - transposon

Record number: 10, Textual support number: 3 OBS

transposon : désignation et définition publiées au Journal officiel de la République française le 4 février 2021.  4, record 10, French, - transposon

Record 10,  Textual support,  Spanish

Record number: 10, Textual support number: 1 DEF

Secuencia de ADN que puede moverse autosuficientemente a diferentes partes del genoma de una célula [...] en este proceso, puede causar mutaciones y cambios en la cantidad de ADN del genoma.  2, record 10, Spanish, - transpos%C3%B3n

Record number: 10, Textual support number: 1 CONT

El transposón modifica el ADN de sus inmediaciones, ya sea arrastrando un gen codificador de un cromosoma a otro, rompiéndolo por la mitad o haciendo que desaparezca del todo.  2, record 10, Spanish, - transpos%C3%B3n

Record number: 10, Textual support number: 1 OBS

Anteriormente [los transposones] fueron conocidos como genes saltarines y son ejemplos de elementos genéticos móviles.  2, record 10, Spanish, - transpos%C3%B3n

Record number: 10, Textual support number: 1 PHR

Transposón compuesto, simple.  2, record 10, Spanish, - transpos%C3%B3n

Record 11,  Textual support,  English

Record number: 11, Textual support number: 1 CONT

Synthetic gene drives are a new form of genetic engineering that overcomes the normal rules of inheritance, and which may allow the deliberate eradication or modification of species and populations in the wild. Gene drives distort the process of inheritance so that the probability of particular genes—and thus specific traits—being passed on is increased substantially above the usual 50%(known as the Mendelian rule of inheritance). Over the course of several generations, genes with higher inheritance rates will rapidly spread through a breeding population... Thus, in theory at least, a gene drive can be employed to force genetic changes into an entire population.  4, record 11, English, - synthetic%20gene%20drive

Record number: 11, Textual support number: 1 OBS

gene drive : In English, a differentiation is sometimes made between a synthetic gene drive, a bioengineered process, and a natural gene drive, a natural process of inheritance. Consequently, it may be preferable to use the designations "synthetic gene drive" and "engineered gene drive" when referring to the bioengineered process.  5, record 11, English, - synthetic%20gene%20drive

Record 11,  Textual support,  French

Record number: 11, Textual support number: 1 DEF

Procédé qui consiste à modifier la transmission héréditaire de certains gènes par génie génétique afin d'agir, au cours des générations, sur la composition de populations.  3, record 11, French, - for%C3%A7age%20g%C3%A9n%C3%A9tique

Record number: 11, Textual support number: 1 CONT

Il s'agit en effet de violer les fameuses lois de Mendel pour répandre un caractère donné dans l'ensemble d'une population. Lors de la reproduction sexuée, un caractère porté sur un chromosome d'un des deux parents n'a qu'une chance sur deux d'être transmis à la génération suivante. Le forçage génétique ­consiste à dépasser ce seuil et transmettre ce caractère à 100 % de la descendance.  4, record 11, French, - for%C3%A7age%20g%C3%A9n%C3%A9tique

Record number: 11, Textual support number: 1 OBS

guidage génétique : désignation et définition publiées au Journal officiel de la République française le 28 mars 2018.  5, record 11, French, - for%C3%A7age%20g%C3%A9n%C3%A9tique

Record 11,  Textual support,  Spanish

Record 12,  Textual support,  English

Record number: 12, Textual support number: 1 DEF

A segment of eukaryotic gene that is transcribed as part of the primary transcript and is retained, after processing, to form a functional mRNA [messenger ribonucleic acid] molecule.  2, record 12, English, - exon

Record 12,  Textual support,  French

Record number: 12, Textual support number: 1 DEF

Fragment de gène dont la séquence d'ADN, après transcription se retrouve dans les ARNm [acides ribonucléiques messagers] maturés.  2, record 12, French, - exon

Record number: 12, Textual support number: 1 OBS

exon : désignation publiée au Journal officiel de la République française le 4 février 2021.  3, record 12, French, - exon

Record 12,  Textual support,  Spanish

Record 13,  Textual support,  English

Record number: 13, Textual support number: 1 DEF

A technique used in genetic engineering for introducing particular changes to the base sequence of a gene at a specific site.  6, record 13, English, - site%2Ddirected%20mutagenesis

Record 13,  Textual support,  French

Record number: 13, Textual support number: 1 CONT

Plusieurs progrès techniques ont été essentiels au développement des méthodes d'évolution dirigée. Le premier d'entre eux est la mutagenèse dirigée sur un site donné. Dans cette technique, la séquence nucléotidique d'un gène est modifiée.  5, record 13, French, - mutagen%C3%A8se%20dirig%C3%A9e

Record number: 13, Textual support number: 2 CONT

Mutagenèse dirigée. Un oligonucléotide synthétique est utilisé pour introduire une mutation spécifique dans un gène.  5, record 13, French, - mutagen%C3%A8se%20dirig%C3%A9e

Record number: 13, Textual support number: 1 OBS

mutagénèse dirigée : désignation normalisée par l'AFNOR.  6, record 13, French, - mutagen%C3%A8se%20dirig%C3%A9e

Record number: 13, Textual support number: 2 OBS

mutagénèse dirigée : désignation publiée au Journal officiel de la République française le 28 mars 2018.  7, record 13, French, - mutagen%C3%A8se%20dirig%C3%A9e

Record 13,  Textual support,  Spanish

Record number: 13, Textual support number: 1 DEF

Generación de cambios en la secuencia de nucleótidos de un gen clonado; se utiliza para estudiar la relación entre la secuencia de nucleótidos y la función del gen, y para modificar productos génicos.  3, record 13, Spanish, - mutag%C3%A9nesis%20dirigida

Record 14,  Textual support,  English

Record number: 14, Textual support number: 1 CONT

Guide RNAs (gRNAs) are tiny RNA [ribonucleic acid] transcripts that guide the editing machinery through base-pairing with the mRNAs [messenger ribonucleic acids] in edited regions. gRNAs are complementary to small segments of the fully edited mRNAs, and thus serve as mini-templates to guide the addition and deletion of Us from the pre-edited mRNA as they form a locally double-stranded RNA helix.  4, record 14, English, - guide%20ribonucleic%20acid

Record number: 14, Textual support number: 2 CONT

No one studying molecular biology can escape the impact that the CRISPR/Cas9 system has had on the field. In its natural environment, it functions as an adaptive bacterial immune system that can remember past viral infections. However, it is mainly known and popular as a highly versatile and precise tool for gene editing.... At the heart of the system is Cas9, a programmable and sequence‐specific endonuclease that introduces double‐strand breaks into DNA, which can be exploited to modify the DNA sequence in many different ways. The Cas9 cleavage site is determined by a small RNA molecule, termed guide RNA(gRNA), that base pairs with the target DNA and at the same time binds to Cas9 to initiate the site‐specific double‐strand break...  5, record 14, English, - guide%20ribonucleic%20acid

Record 14,  Textual support,  French

Record number: 14, Textual support number: 1 DEF

ARN s'associant à une enzyme ou à un complexe protéique, qui, lorsqu'il s'apparie à une séquence d'ARN ou d'ADN complémentaire, permet à l'enzyme ou au complexe protéique de se positionner sur cet ARN ou ADN complémentaire.  4, record 14, French, - acide%20ribonucl%C3%A9ique%20guide

Record number: 14, Textual support number: 1 OBS

ARN guide : désignation et définition publiées au Journal officiel de la République française le 28 mars 2018.  5, record 14, French, - acide%20ribonucl%C3%A9ique%20guide

Record 14,  Textual support,  Spanish

Record 15,  Textual support,  English

Record number: 15, Textual support number: 1 DEF

A posttranscriptional genetic mechanism of eukaryotes that suppresses gene expression and in which double-stranded RNA [ribonucleic acid] cleaved into small fragments initiates the degradation of a complementary messenger RNA sequence.  4, record 15, English, - ribonucleic%20acid%20interference

Record 15,  Textual support,  French

Record number: 15, Textual support number: 1 CONT

L'interférence d'ARN [acide ribonucléique] est un mécanisme de régulation post-transcriptionnel physiologique très conservé dans l'évolution, conduisant à l'inhibition de l'expression génique. L'interférence est due au clivage des ARN double brin dans la cellule par des petites molécules d'ARN [...] qui ciblent des séquences complémentaires et entraînent la destruction de l'ARN sous l'effet d'un complexe comprenant une ribonucléase.  7, record 15, French, - interf%C3%A9rence%20par%20acide%20ribonucl%C3%A9ique

Record 15,  Textual support,  Spanish

Record 16,  Textual support,  English

Record number: 16, Textual support number: 1 CONT

The mechanism of autogenous regulation, whereby a protein directly controls the expression of its own structural gene, is compared on the basis of function with the classical mechanism, in which the structural gene of the regulator is itself unregulated.  2, record 16, English, - autogenous%20regulation

Record 16,  Textual support,  French

Record number: 16, Textual support number: 1 DEF

Tout mécanisme par lequel le produit d'un gène contrôle l'expression de ce même gène.  2, record 16, French, - r%C3%A9gulation%20autog%C3%A8ne

Record number: 16, Textual support number: 1 OBS

régulation autogène; autorégulation : désignations normalisées par l'AFNOR.  4, record 16, French, - r%C3%A9gulation%20autog%C3%A8ne

Record number: 16, Textual support number: 2 OBS

régulation autogène; autorégulation génique : désignations et définition publiées au Journal officiel de la République française le 9 avril 2022.  5, record 16, French, - r%C3%A9gulation%20autog%C3%A8ne

Record 16,  Textual support,  Spanish

Record 17,  Textual support,  English

Record number: 17, Textual support number: 1 CONT

Prime editing ... uses exogenous reverse transcriptase activity to "write" DNA edits directly into genomic DNA ...  3, record 17, English, - prime%20editing

Record number: 17, Textual support number: 2 CONT

Prime editing is [an] innovative gene editing technique that allows for precise modifications to the DNA sequence, including insertions, deletions and substitutions, without the need for double-strand breaks. It combines the functions of a catalytically impaired Cas9 enzyme(nickase) and a reverse transcriptase enzyme, along with a unique RNA [ribonucleic acid] molecule called prime editing guide RNA(pegRNA).  4, record 17, English, - prime%20editing

Record 17,  Textual support,  French

Record number: 17, Textual support number: 1 DEF

Réécriture génomique qui consiste à incorporer au génome une séquence d'ADN issue de la transcription inverse in situ d'une matrice d'ARN [acide ribonucléique].  2, record 17, French, - r%C3%A9%C3%A9criture%20par%20matrice%20d%27acide%20ribonucl%C3%A9ique

Record number: 17, Textual support number: 1 OBS

réécriture par matrice d'ARN : désignation et définition publiées au Journal officiel de la République française le 9 avril 2022.  1, record 17, French, - r%C3%A9%C3%A9criture%20par%20matrice%20d%27acide%20ribonucl%C3%A9ique

Record 17,  Textual support,  Spanish

Record 18,  Textual support,  English

Record number: 18, Textual support number: 1 CONT

Sorsby's macular dystrophy.... This is an extremely rare, dominantly inherited disorder, with many clinical similarities to age-related macular degeneration. A gene for Sorsby's dystrophy that codes for a tissue inhibitor metalloproteinase, TIMP-3, has been identified.... Several mutations of TIMP-3 have been identified in patients with Sorsby's dystrophy.... Early in the disease process, several very fine drusen or a large confluent plaque or yellowish material may be noted beneath the central RPE [retinal pigment epithelium]. Then, typically around 40 years of age, patients develop bilateral exudative maculopathy, which leaves heavily pigmented macular scars and areas of geographical atrophy.  4, record 18, English, - Sorsby%27s%20macular%20dystrophy

Record 18,  Textual support,  French

Record number: 18, Textual support number: 1 CONT

La dystrophie de Sorsby est une dystrophie maculaire de transmission autosomique dominante liée à une mutation sur le gène TIMP3. Le phénotype est caractérisé par l'apparition de drusen et de néovaisseaux et une atrophie rétinienne survenant entre la 3e et 6e décennie. La pathologie est progressive et cécitante.  3, record 18, French, - dystrophie%20maculaire%20de%20Sorsby

Record 18,  Textual support,  Spanish

Record 19,  Textual support,  English

Record number: 19, Textual support number: 1 CONT

Stargardt's disease is the most common cause of juvenile macular dystrophy that can cause progressive central visual loss.... The disease affects the retinal pigment epithelium(RPE) and photoreceptor layers, and typically has an onset in childhood or young adulthood. The disease is caused by mutations in gene encoding photoreceptor cell-specific-ATP-binding cassette transporter ABCA4 that leads to an abnormal accumulation of lipofuscin in the RPE and the photoreceptors causing degenerative changes.  7, record 19, English, - Stargardt%27s%20disease

Record 19,  Textual support,  French

Record number: 19, Textual support number: 1 CONT

La maladie de Stargardt est la forme la plus fréquente de dystrophie maculaire juvénile à transmission autosomique récessive caractérisée par l'existence d'une lésion maculaire bilatérale ayant un aspect en œil de bœuf en rapport avec l'accumulation de pigment lipofuscine au niveau l'épithélium pigmentaire.  3, record 19, French, - maladie%20de%20Stargardt

Record 19,  Textual support,  Spanish

Record 20,  Textual support,  English

Record number: 20, Textual support number: 1 CONT

Occult macular dystrophy(OMD), also known as Miyake's disease, is an aptly named inherited macular disorder characterized by poor central acuity despite a normal-appearing fundus, FA [fluorescein angiography], and full-field ERG [electroretinogram].... OMD typically exhibits an autosomal dominant form of inheritance due to mutations in the retinitis pigmentosa 1-like 1(RP1L1) gene located on the short arm of chromosome 8.  3, record 20, English, - occult%20macular%20dystrophy

Record 20,  Textual support,  French

Record number: 20, Textual support number: 1 CONT

Dystrophie maculaire occulte («occult macular dystrophy»). [...] affection rare, caractérisée par une baisse progressive de l'acuité visuelle malgré un fond d'œil normal. [...] Mutations dans le gène «retinitis pigmentosa 1-like protein 1 gene (RP1L1)» sur le chromosome 8p23.1. [...] Transmission [autosomique] dominante.  1, record 20, French, - dystrophie%20maculaire%20occulte

Record 20,  Textual support,  Spanish

Record 21,  Textual support,  English

Record number: 21, Textual support number: 1 CONT

Best disease(Best vitelliform macular dystrophy, BVMD) is a rare autosomal dominant disorder due to the mutation of BEST1(or VMD2, TU15B...) gene with incomplete penetrance and variable expression which typically presents in childhood. However, there are also reports of autosomal recessive BVMD. Its characteristic presentation is by bilateral fundus changes of egg-yolk appearance(as in a fried egg with sunny side up) at the macula in both eyes. The retinal pigment epithelium(RPE) is primarily affected.... The visual prognosis of the disease is usually good, usually maintaining driving/reading capability in at least one eye throughout life.  5, record 21, English, - Best%27s%20disease

Record 21,  Textual support,  French

Record number: 21, Textual support number: 1 CONT

La maladie de Best [...] est une affection génétique à transmission autosomique dominante. Le gène responsable est localisé sur le bras long du chromosome 11. L'affection est caractérisée par une accumulation d'un matériel (lipofuscine) au sein de l'épithélium pigmentaire de la rétine. L'affection étant à transmission dominante, le diagnostic est habituellement porté dans l'enfance lors d'un examen systématique d'un enfant, de père ou de mère atteint. [...] L'aspect du fond d'œil est habituellement typique, permettant le diagnostic dès l'examen : présence d'un disque arrondi ou ovalaire, jaunâtre, discrètement surélevé mesurant d'un demi à trois diamètres papillaires. L'aspect du fond d'œil ressemble à un œuf sur le plat [...]  3, record 21, French, - maladie%20de%20Best

Record 21,  Textual support,  Spanish

Record number: 21, Textual support number: 1 DEF

Maculopatía de herencia autosómica dominante, con una expresividad y penetrancia variables, relacionada con mutaciones del gen bestrophin localizadoen el cromosoma 11, [...] típicamente bilateral y de aparición en la infancia, [con] lesión amarillenta por acúmulo de lipofuscina [...]  1, record 21, Spanish, - enfermedad%20de%20Best

Record 22,  Textual support,  English

Record number: 22, Textual support number: 1 CONT

Bestrophinopathy is a term enclosing a heterogeneous group of phenotypes of degenerative eye diseases caused by the BEST genes, specifically the BEST1 gene... Diseases involving mutations in [the] BEST1 gene belong thus to a spectrum of diseases characterized by abnormal ocular development which extends beyond the retina.  2, record 22, English, - bestrophinopathy

Record 22,  Textual support,  French

Record number: 22, Textual support number: 1 OBS

Maladie oculaire liée à une ou des mutations du gène BEST1.  2, record 22, French, - bestrophinopathie

Record 22,  Textual support,  Spanish

Record 23,  Textual support,  English

Record number: 23, Textual support number: 1 CONT

X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula.  3, record 23, English, - X%2Dlinked%20juvenile%20retinoschisis

Record number: 23, Textual support number: 1 OBS

Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina.  3, record 23, English, - X%2Dlinked%20juvenile%20retinoschisis

Record number: 23, Textual support number: 2 OBS

retinoschisis: Degenerative splitting of the retina into separate layers.  4, record 23, English, - X%2Dlinked%20juvenile%20retinoschisis

Record 23,  Textual support,  French

Record number: 23, Textual support number: 1 CONT

Rétinoschisis juvénile lié à l'X. [...] Il s'agit d'une affection génétique rare qui atteint, très généralement, les garçons et les jeunes hommes, et qui entraîne une diminution progressive de l'acuité visuelle. [...] On voit apparaître des formations kystiques dans la rétine, ce qui va entraîner un clivage rétinien à l'origine des altérations anatomiques [...]  1, record 23, French, - r%C3%A9tinoschisis%20juv%C3%A9nile%20li%C3%A9%20%C3%A0%20l%27X

Record 23,  Textual support,  Spanish

Record 24,  Textual support,  English

Record number: 24, Textual support number: 1 CONT

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin.  4, record 24, English, - hypotrichosis%20with%20juvenile%20macular%20dystrophy

Record 24,  Textual support,  French

Record number: 24, Textual support number: 1 CONT

L'hypotrichose congénitale avec dystrophie maculaire juvénile [...] est une affection rare de transmission autosomique récessive, caractérisée par l'association de cheveux courts et épars dès les premiers mois de vie et d'une dystrophie maculaire progressive aboutissant à la cécité entre les 2e et 4e [décennies].  1, record 24, French, - hypotrichose%20cong%C3%A9nitale%20avec%20dystrophie%20maculaire%20juv%C3%A9nile

Record number: 24, Textual support number: 1 OBS

[L'hypotrichose congénitale avec dystrophie maculaire juvénile] est liée à une mutation sur le gène CDH3 codant la P-cadhérine, glycoprotéine essentielle de l'adhésion cellulaire.  1, record 24, French, - hypotrichose%20cong%C3%A9nitale%20avec%20dystrophie%20maculaire%20juv%C3%A9nile

Record 24,  Textual support,  Spanish

Record 25,  Textual support,  English

Record number: 25, Textual support number: 1 CONT

Collectively, temperature, water availability, atmospheric gases, aeration of the soil, mineral nutrients, etc. modulate all the gene activities. The time the genotype uses(needs) to develop to harvest maturity is strongly modulated by both temperature and daylength. Independently the same environment, mostly the temperature and moisture regimes, establishes the duration of the growing season.  2, record 25, English, - duration%20of%20the%20growing%20season

Record number: 25, Textual support number: 2 CONT

Duration of the growing season is defined by temperature extremes. · Cardinal temperatures: Optimum, Minimum, Maximum · Tolerance: Range between minimum and maximum.  3, record 25, English, - duration%20of%20the%20growing%20season

Record 25,  Textual support,  French

Record number: 25, Textual support number: 1 CONT

Afin de lui donner quelque signification économique, la saison de croissance réelle est définie comme la durée de la saison de croissance qui prévaut dans 80 ou 90 % des années.  1, record 25, French, - dur%C3%A9e%20de%20la%20saison%20de%20croissance

Record 25,  Textual support,  Spanish

Record number: 25, Textual support number: 1 CONT

Esta figura muestra la relación entre la duración de la temporada de crecimiento y la concentración atmosférica de CO2. Una temporada de crecimiento más larga elimina más CO2 de la atmósfera.  1, record 25, Spanish, - duraci%C3%B3n%20de%20la%20temporada%20de%20crecimiento

Record 26,  Textual support,  English

Record number: 26, Textual support number: 1 OBS

A decapod of the family Carcinidae.  2, record 26, English, - Mediterranean%20green%20crab

Record number: 26, Textual support number: 2 OBS

Carcinus aestuarii bears some similarities to Carcinus maenas and was sometimes considered to be a subspecies thereof, rather than a species in its own right, but a molecular biological study using the [cytochrome c oxidase] gene found the difference between the two taxa to be substantial, supporting their status as separate species.  3, record 26, English, - Mediterranean%20green%20crab

Record 26,  Textual support,  French

Record number: 26, Textual support number: 1 OBS

Décapode de la famille des Carcinidae.  2, record 26, French, - crabe%20vert%20de%20la%20M%C3%A9diterran%C3%A9e

Record number: 26, Textual support number: 2 OBS

Carcinus aestuarii est un crabe de littoral originaire de la mer Méditerranée. Il est très similaire à l'espèce Carcinus maenas (et parfois considéré comme une variété de C. maenas plutôt qu'une espèce à part entière).  3, record 26, French, - crabe%20vert%20de%20la%20M%C3%A9diterran%C3%A9e

Record 26,  Textual support,  Spanish

Record 27,  Textual support,  English

Record number: 27, Textual support number: 1 DEF

A heritable change that does not affect the DNA sequence but results in a change in gene expression.  2, record 27, English, - epimutation

Record 27,  Textual support,  French

Record number: 27, Textual support number: 1 DEF

Changement héritable de l'état d'expression des gènes qui s'effectue sans modification de leur séquence et se maintient par l'effet de marques épigénétiques ou d'ARN [acide ribonucléique] non codants.  2, record 27, French, - %C3%A9pimutation

Record number: 27, Textual support number: 1 OBS

épimutation : désignation et définition publiées au Journal officiel de la République française le 27 juillet 2025.  3, record 27, French, - %C3%A9pimutation

Record 27,  Textual support,  Spanish

Record 28,  Textual support,  English

Record number: 28, Textual support number: 1 CONT

Epigenetic tags regulate gene expression by acting as gatekeepers, blocking or allowing access to a gene's "on" switch. These chemical tags(such as methyl or acetyl groups) are added directly to DNA or onto histones, the large spool-like proteins around which DNA is tightly wound.  6, record 28, English, - epigenetic%20mark

Record 28,  Textual support,  French

Record number: 28, Textual support number: 1 DEF

Groupement chimique, en particulier méthyle ou acétyle, qui est fixé à l'ADN ou aux histones et qui module la transcription des gènes, notamment en conditionnant le degré de condensation de la chromatine.  3, record 28, French, - marque%20%C3%A9pig%C3%A9n%C3%A9tique

Record number: 28, Textual support number: 1 OBS

marque épigénétique; marqueur épigénétique : désignations et définition publiées au Journal officiel de la République française le 27 juillet 2023.  4, record 28, French, - marque%20%C3%A9pig%C3%A9n%C3%A9tique

Record 28,  Textual support,  Spanish

Record 29,  Textual support,  English

Record number: 29, Textual support number: 1 DEF

The study of heritable changes in gene function that do not involve changes in DNA sequence.  2, record 29, English, - epigenetics

Record 29,  Textual support,  French

Record number: 29, Textual support number: 1 DEF

Science qui étudie les changements phénotypiques héritables qui ne sont pas associés à des changements de la séquence du génome.  2, record 29, French, - %C3%A9pig%C3%A9n%C3%A9tique

Record number: 29, Textual support number: 1 OBS

épigénétique : désignation et définition publiées au Journal officiel de la République française le 27 juillet 2023.  3, record 29, French, - %C3%A9pig%C3%A9n%C3%A9tique

Record 29,  Textual support,  Spanish

Record 30,  Textual support,  English

Record number: 30, Textual support number: 1 OBS

RDEB is an autosomal recessive inherited condition. This means both parents are carriers, yet they are unaffected. When each parent has a copy of the altered gene, there is a 1 in 4 chance or 25% that the child will be affected.  1, record 30, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record number: 30, Textual support number: 2 OBS

Although in some cases this form of EB [epidermolysis bullosa] can be mild with generalized blistering, typically the recessive forms of EB tend to be more severe. Onset is usually at birth with areas of missing skin. Generalized blistering then scarring can occur on skin surfaces and mucous membranes. Scarring may limit range of motion of extremities. Fusion of fingers and toes and contractures cause deformity and loss of function.  1, record 30, English, - recessive%20dystrophic%20epidermolysis%20bullosa

Record 30,  Textual support,  French

Record number: 30, Textual support number: 1 CONT

L'EB [épidermolyse bulleuse] dystrophique est causée par des mutations dominantes ou récessives du gène COL7A1 qui code pour le collagène de type VII [...] Les mutations pathologiques conduisent à la production d'un collagène de type VII non fonctionnel ou à son absence. En conséquence, les fibrilles d'ancrage de la jonction dermo-épidermique ne sont pas assemblées correctement ou ne sont pas formées, ce qui réduit l'adhérence entre le derme et l'épiderme et provoque des plaies. Les patients atteints d'EBDR souffrent donc de ces plaies pendant toute leur vie [...]  2, record 30, French, - %C3%A9pidermolyse%20bulleuse%20dystrophique%20r%C3%A9cessive

Record 30,  Textual support,  Spanish

Record number: 30, Textual support number: 1 OBS

La epidermólisis bullosa distrófica es una enfermedad hereditaria rara debida a mutaciones del gen COL7A1. Su variante recesiva (EBDR) se caracteriza por una marcada disminución o ausencia completa de colágeno tipo VII.  1, record 30, Spanish, - epiderm%C3%B3lisis%20bullosa%20distr%C3%B3fica%20recesiva

Record 31,  Textual support,  English

Record number: 31, Textual support number: 1 DEF

A process whereby a gene with neutral value achieves a high value, or even fixation, within a population because it is closely linked to a gene that is being selected for.  1, record 31, English, - genetic%20hitchhiking

Record 31,  Textual support,  French

Record number: 31, Textual support number: 1 CONT

L'autostop génétique («genetic hitch-hiking») permet à une mutation neutre ou légèrement défavorable de se répandre dans une population simplement par le fait qu'elle est associée à un allèle fortement sélectionné [...]  3, record 31, French, - autostop%20g%C3%A9n%C3%A9tique

Record 31,  Textual support,  Spanish

Record number: 31, Textual support number: 1 CONT

Se ha demostrado que el aislamiento reproductivo surge de la pleiotropía (es decir, la selección indirecta que actúa sobre genes que codifican más de un rasgo), lo que se conoce como autostop genético.  1, record 31, Spanish, - autostop%20gen%C3%A9tico

Record 32,  Textual support,  English

Record number: 32, Textual support number: 1 CONT

GLP-1(glucagon-like peptide-1) is a gut hormone which is released into the blood stream after feeding. Its main action is to stimulate insulin secretion through potentiating the insulinotropic action of glucose. The peptide is encoded in the glucagon gene and expressed mainly in the gut L cells.  3, record 32, English, - glucagon%2Dlike%20peptide%2D1

Record 32,  Textual support,  French

Record 32,  Textual support,  Spanish

Record 33,  Textual support,  English

Record number: 33, Textual support number: 1 DEF

The presence in a population at a particular gene locus of alternative alleles in which one is progressively replaced by another.  2, record 33, English, - transient%20polymorphism

Record 33,  Textual support,  French

Record number: 33, Textual support number: 1 CONT

Toute population voit apparaître régulièrement des mutations de novo [qui] ont une probabilité assez élevée de disparaître, même quand elles sont favorables, a fortiori quand elles sont défavorables ou «sélectivement neutres». Cependant un certain nombre de générations peut séparer la survenue d'une mutation de novo et sa disparition sous l'effet de la dérive. Ces allèles ayant une existence transitoire plus ou moins longue dans la population forment un fonds de polymorphisme génétique appelé «polymorphisme transitoire» [...]  1, record 33, French, - polymorphisme%20transitoire

Record 33,  Textual support,  Spanish

Record 34,  Textual support,  English

Record number: 34, Textual support number: 1 CONT

The most common monogenic cause of early-onset obesity is a heterozygous mutation in the gene encoding for the melanocortin 4 receptor(MC4R), a critical regulator of appetite and energy metabolism...  2, record 34, English, - early%2Donset%20obesity

Record 34,  Textual support,  French

Record number: 34, Textual support number: 1 CONT

Les sujets porteurs de mutations de MC4R [récepteur aux mélanocortine de type 4] ont souvent une obésité à début précoce.  1, record 34, French, - ob%C3%A9sit%C3%A9%20%C3%A0%20d%C3%A9but%20pr%C3%A9coce

Record 34,  Textual support,  Spanish

Record 35,  Textual support,  English

Record number: 35, Textual support number: 1 CONT

... rare forms of monogenic obesity distinguish themselves from polygenic obesity, which is the most common clinical situation... In polygenic obesity, each susceptibility gene, taken individually, would only have a slight effect on weight. Furthermore, the cumulative contribution of these genes would become significant only in an obesogenic environment(such as overfeeding, sedentary living, stress, etc.).  2, record 35, English, - polygenic%20obesity

Record 35,  Textual support,  French

Record number: 35, Textual support number: 1 CONT

Comme pour toutes les maladies multifactorielles, la contribution de l'hérédité à l'obésité peut être schématisée : - par mutations rares des gènes à fort impact sur l'obésité [...] - soit par l'interaction de plusieurs variants géniques avec un environnement permissif (obésité polygénique). Chaque gène de susceptibilité pris individuellement a de faibles effets sur le poids, et la contribution cumulative de ces gènes ne devient significative qu'en interaction avec des facteurs environnementaux prédisposant à leur expression phénotypique.  2, record 35, French, - ob%C3%A9sit%C3%A9%20polyg%C3%A9nique

Record 35,  Textual support,  Spanish

Record 36,  Textual support,  English

Record number: 36, Textual support number: 1 CONT

When searching through sire directories, you might see that some of the bull names contain a(P) or(PP). This is to indicate whether or not that particular sire has the heterozygous or homozygous polled gene.  1, record 36, English, - homozygous%20polled%20gene

Record number: 36, Textual support number: 1 OBS

Heterozygous animals have one copy of the polled gene, and homozygous have two copies of the polled gene.  1, record 36, English, - homozygous%20polled%20gene

Record 36,  Textual support,  French

Record number: 36, Textual support number: 1 CONT

Lors de vos recherches [de] taureaux, [...] vous pouvez voir que certains des noms de taureaux contiennent un (P) ou (PP)[. Cela] permet d'indiquer si ce taureau est porteur du gène hétérozygote ou homozygote sans cornes.  1, record 36, French, - g%C3%A8ne%20homozygote%20sans%20cornes

Record 36,  Textual support,  Spanish

Record 37,  Textual support,  English

Record number: 37, Textual support number: 1 CONT

Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations that can change with age. The most consistent features are wide-set eyes, low-set ears, short stature, and pulmonic stenosis. Noonan syndrome is typically inherited in an autosomal dominant manner. At least 8 gene mutations can cause this syndrome, and patient presentation can range from mild to severe.  5, record 37, English, - Noonan%20syndrome

Record number: 37, Textual support number: 1 OBS

male Turner syndrome: An early term for NS, "male Turner syndrome," incorrectly implied that the condition would not be found in females.  2, record 37, English, - Noonan%20syndrome

Record 37,  Textual support,  French

Record number: 37, Textual support number: 1 CONT

Le syndrome de Noonan est un syndrome d'origine génétique qui se manifeste par un aspect particulier des traits du visage, des malformations du cœur et une petite taille. [...] Le syndrome de Noonan touche indifféremment les garçons et les filles. Cette maladie n'est pas spécifique d'une population ou d'une région particulières. [...] Beaucoup de manifestations de la maladie sont présentes dès la naissance, mais elles sont discrètes et peu spécifiques. C'est pourquoi le diagnostic de syndrome de Noonan est souvent tardif (entre 5 et 10 ans) lorsqu'il n'y a pas de rétrécissement de la valve pulmonaire ou de cardiomyopathie. Les particularités du visage s'estompent à l'âge adulte.  6, record 37, French, - syndrome%20de%20Noonan

Record number: 37, Textual support number: 1 OBS

syndrome de Turner masculin; syndrome de Turner mâle : Ces désignations vieillies laissent entendre que les personnes de sexe féminin ne peuvent pas être atteintes de ce syndrome, ce qui est erroné.  7, record 37, French, - syndrome%20de%20Noonan

Record 37,  Textual support,  Spanish

Record 38,  Textual support,  English

Record number: 38, Textual support number: 1 CONT

Monogenic obesity is defined as obesity resulting from a mutation or deficiency of a single gene.  2, record 38, English, - monogenic%20obesity

Record 38,  Textual support,  French

Record number: 38, Textual support number: 1 CONT

L'obésité monogénique, une forme rare d’obésité qui affecte un seul gène. Plusieurs formes rares d'obésité [...] résultent de mutations sur des gènes uniques, ou mutations monogéniques, notamment sur ceux qui jouent un rôle dans le contrôle de l'appétit. La sensation de faim est donc très importante, voire irrépressible, entrainant de facto une prise de poids qui mène à l'obésité.  2, record 38, French, - ob%C3%A9sit%C3%A9%20monog%C3%A9nique

Record 38,  Textual support,  Spanish

Record 39,  Textual support,  English

Record number: 39, Textual support number: 1 CONT

Genetic obesity is categorized into several types based on the way genes are involved... Monogenic obesity : Excessive weight caused by a mutation in a single gene.... Polygenic obesity : Variations in multiple genes contribute to the susceptibility to obesity in small ways.... Syndromic obesity : Genetic changes in specific diseases, like Prader-Willi syndrome, can directly lead to obesity.  2, record 39, English, - genetic%20obesity

Record 39,  Textual support,  French

Record 39,  Textual support,  Spanish

Record 40,  Textual support,  English

Record number: 40, Textual support number: 1 CONT

People who inherit one sickle cell gene and one normal gene have sickle cell trait(SCT). People with SCT usually do not have any of the symptoms of sickle cell disease(SCD), but they can pass the trait on to their children.  2, record 40, English, - sickle%20cell%20trait

Record 40,  Textual support,  French

Record number: 40, Textual support number: 1 CONT

Le trait drépanocytaire caractérise l'individu qui a hérité d'un seul gène d'hémoglobine S d'un de ses parents. Le trait ne peut pas évoluer en anémie à cellules falciformes.  4, record 40, French, - trait%20dr%C3%A9panocytaire

Record 40,  Textual support,  Spanish

Record number: 40, Textual support number: 1 DEF

Forma heterocigótica de la anemia drepanocítica, caracterizada por la presencia a la vez de hemoglobina S y hemoglobina A en los hematíes.  1, record 40, Spanish, - rasgo%20drepanoc%C3%ADtico

Record number: 40, Textual support number: 1 OBS

No se produce anemia ni otros signos de la anemia drepanocítica. Las personas que tienen ese rasgo son informadas y aconsejadas en relación con la posibilidad de tener un niño con drepanocitosis si ambos padres lo presentan.  1, record 40, Spanish, - rasgo%20drepanoc%C3%ADtico

Record 41,  Textual support,  English

Record number: 41, Textual support number: 1 CONT

Sickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. Sickle cell anemia is the most common form of sickle cell disease (SCD), with a lifelong affliction of hemolytic anemia requiring blood transfusions, pain crises, and organ damage.  5, record 41, English, - sickle%20cell%20anemia

Record number: 41, Textual support number: 1 OBS

... sickle cell anaemia is the main form of SCD [sickle cell disease], in which the person inherits the gene encoding sickle haemoglobin(HbS) from both biological parents.  6, record 41, English, - sickle%20cell%20anemia

Record 41,  Textual support,  French

Record number: 41, Textual support number: 1 CONT

Pour qu'un enfant soit atteint d'anémie à hématies falciformes, il faut que ses deux parents lui aient transmis le gène de l'hémoglobine S. Si un seul parent lui transmet le gène, l'enfant sera lui aussi porteur du gène fautif, mais il ne souffrira pas de cette maladie.  1, record 41, French, - an%C3%A9mie%20%C3%A0%20h%C3%A9maties%20falciformes

Record number: 41, Textual support number: 1 OBS

drépanocytose : Bien que la désignation «drépanocytose» désigne l'ensemble des maladies causées par la présence d'hémoglobine S, certains auteurs l'utilisent comme synonyme de la désignation «anémie à hématies falciformes» qui correspond à la forme homozygote de la maladie falciforme.  6, record 41, French, - an%C3%A9mie%20%C3%A0%20h%C3%A9maties%20falciformes

Record 41,  Textual support,  Spanish

Record number: 41, Textual support number: 1 CONT

La anemia falciforme es una anemia hemolítica severa con alto índice de mortalidad y es hereditaria con patrón de herencia autosómica recesiva.  1, record 41, Spanish, - anemia%20falciforme

Record 42,  Textual support,  English

Record number: 42, Textual support number: 1 CONT

When searching through sire directories, you might see that some of the bull names contain a(P) or(PP), this is to indicate whether or not that particular sire has the heterozygous or homozygous polled gene.  1, record 42, English, - heterozygous%20polled%20gene

Record number: 42, Textual support number: 1 OBS

Heterozygous animals have one copy of the polled gene, and homozygous have two copies of the polled gene.  1, record 42, English, - heterozygous%20polled%20gene

Record 42,  Textual support,  French

Record number: 42, Textual support number: 1 CONT

Lors de vos recherches [de] taureaux, [...] vous pouvez voir que certains des noms de taureaux contiennent un (P) ou (PP), ceci permet d'indiquer si ce taureau est porteur du gène hétérozygote ou homozygote sans cornes.  2, record 42, French, - g%C3%A8ne%20h%C3%A9t%C3%A9rozygote%20sans%20cornes

Record 42,  Textual support,  Spanish

Record 43,  Textual support,  English

Record number: 43, Textual support number: 1 CONT

University of Minnesota chemistry researcher Jenny Laaser is one of only five recipients nationwide of the 2014 L'Oréal USA For Women in Science Fellowship... Laaser, who completed her Ph. D. in physical chemistry last year, is conducting research that will impact future efforts to design gene therapies. She is specifically investigating how positively charged particles interact with negatively charged polymers like DNA [deoxyribonucleic acid].  3, record 43, English, - chemistry%20researcher

Record 43,  Textual support,  French

Record number: 43, Textual support number: 1 CONT

Pourquoi la persévérance joue-t-elle un rôle crucial dans une carrière en chimie? Une conversation avec Clément Poittevin[,] chercheur en chimie[, qui] nous parle de l'importance du travail d'équipe et de la nécessité de faire preuve de résilience face aux défis en laboratoire.  3, record 43, French, - chercheur%20en%20chimie

Record 43,  Textual support,  Spanish

Record 44,  Textual support,  English

Record number: 44, Textual support number: 1 DEF

A gene that has the potential to cause a normal cell to become transformed into a cancerous cell...  2, record 44, English, - oncogene

Record number: 44, Textual support number: 1 CONT

Oncogenes are mutant forms of normal functional genes (called proto-oncogenes) that have a role in regulating cell proliferation.  3, record 44, English, - oncogene

Record 44,  Textual support,  French

Record number: 44, Textual support number: 1 DEF

Gène dont le produit d'expression peut perturber le contrôle métabolique normal de la cellule, et conduire à sa cancérisation.  2, record 44, French, - oncog%C3%A8ne

Record number: 44, Textual support number: 1 OBS

Ce gène peut être apporté par des virus cancérigènes.  3, record 44, French, - oncog%C3%A8ne

Record 44,  Textual support,  Spanish

Record number: 44, Textual support number: 1 DEF

[...] gen que, al activarse, puede provocar la aparición de un proceso canceroso.  2, record 44, Spanish, - oncog%C3%A9n

Record number: 44, Textual support number: 1 OBS

oncogén: La Fundación del Español Urgente (Fundéu BBVA), con el asesoramiento de la Real Academia Española, indica los términos "oncogén" y "protooncogén" se escriben con tilde por ser palabras agudas que terminan en ene.  2, record 44, Spanish, - oncog%C3%A9n

Record 45,  Textual support,  English

Record number: 45, Textual support number: 1 DEF

A normal gene that with slight alteration by mutation or other mechanism becomes an oncogene.  3, record 45, English, - proto%2Doncogene

Record 45,  Textual support,  French

Record number: 45, Textual support number: 1 DEF

Gène existant dans le génome d'une cellule et pouvant devenir oncogène à la suite d'une activation consécutive à une mutation, une translocation ou à l'insertion d'un promoteur viral actif.  2, record 45, French, - proto%2Doncog%C3%A8ne

Record number: 45, Textual support number: 1 OBS

Les produits de ces gènes cellulaires participent normalement aux communications intra- ou intercellulaires.  3, record 45, French, - proto%2Doncog%C3%A8ne

Record 45,  Textual support,  Spanish

Record number: 45, Textual support number: 1 DEF

[...] gen [normal] que puede convertirse en oncogén por una mutación.  2, record 45, Spanish, - protoncog%C3%A9n

Record number: 45, Textual support number: 1 OBS

protoncogén: La Fundación del Español Urgente (Fundéu BBVA), con el asesoramiento de la Real Academia Española, indica que los términos "oncogén" y "protooncogén" se escriben con tilde por ser palabras agudas que terminan en ene. [...] Se aplica lo mismo para "protooncogén", que se refiere a los genes cuya mutación o amplificación da lugar a un "oncogén". En este caso, también es válida, aunque menos frecuente, la grafía "protoncogén", con una sola o. Sus plurales son "protooncogenes" y "protoncogenes", respectivamente.  3, record 45, Spanish, - protoncog%C3%A9n

Record 46,  Textual support,  English

Record number: 46, Textual support number: 1 DEF

A defined set of anatomical and physiological characteristics, including chromosomes, gene expression, hormones, and reproductive or sexual anatomy.  3, record 46, English, - sex

Record number: 46, Textual support number: 1 OBS

Sex is usually categorized as female or male, but there is variation in the biological attributes that comprise sex and how those attributes appear. Often a person with these variations is characterized or self-identifies as intersex.  3, record 46, English, - sex

Record number: 46, Textual support number: 2 OBS

While sex refers to a set of anatomical and physiological characteristics, gender refers to a social construct.  3, record 46, English, - sex

Record number: 46, Textual support number: 3 OBS

For some people, sex is not static and can change in the course of a person’s life.  3, record 46, English, - sex

Record 46,  Textual support,  French

Record number: 46, Textual support number: 1 DEF

Ensemble défini des caractéristiques anatomiques et physiologiques d'une personne, par exemple les chromosomes, l'expression génique, les hormones ainsi que l'anatomie reproductive ou sexuelle.  3, record 46, French, - sexe

Record number: 46, Textual support number: 1 OBS

Le sexe est généralement défini comme «féminin» ou «masculin». Toutefois, il existe des variations dans les caractéristiques biologiques qui composent le sexe et la façon dont elles se présentent. Souvent, les personnes qui présentent ces variations sont considérées comme des personnes intersexuées ou s'identifient ainsi.  3, record 46, French, - sexe

Record number: 46, Textual support number: 2 OBS

Si le sexe renvoie à l'ensemble des caractéristiques anatomiques et physiologiques, le genre renvoie quant à lui à la construction sociale de l'identité.  3, record 46, French, - sexe

Record number: 46, Textual support number: 3 OBS

Pour certaines personnes, le sexe n'est pas statique et peut changer au cours de la vie.  3, record 46, French, - sexe

Record 46,  Textual support,  Spanish

Record number: 46, Textual support number: 1 DEF

[…] sexo con el que se nació, determinado por cromosomas, genitales, hormonas y gónadas.  2, record 46, Spanish, - sexo%20biol%C3%B3gico

Record 47,  Textual support,  English

Record number: 47, Textual support number: 1 CONT

Various computational tools are deployed in functional bioinformatics to decipher complex biological information in diverse datasets to generate precise biological understanding and hypotheses about gene functions, protein expression, interactions and regulations in both health and disease.  1, record 47, English, - functional%20bioinformatics

Record 47,  Textual support,  French

Record 47,  Textual support,  Spanish

Record 48,  Textual support,  English

Record number: 48, Textual support number: 1 OBS

intersex person : The term "intersex person" is used to describe a person whose anatomical and physiological characteristics do not meet the medical criteria of the male or female sex. Anatomical and physiological characteristics include chromosomes, gene expression, hormones, and reproductive or sexual anatomy.  3, record 48, English, - intersex%20person

Record number: 48, Textual support number: 2 OBS

intersex person: The term "intersex person" does not refer to sexual orientation or gender.  3, record 48, English, - intersex%20person

Record 48,  Textual support,  French

Record number: 48, Textual support number: 1 OBS

personne intersexuée; personne intersexe : Les termes «personne intersexuée» et «personne intersexe» sont utilisés pour décrire une personne dont les caractéristiques anatomiques et physiologiques ne répondent pas aux critères médicaux du sexe féminin ou masculin. On entend par caractéristiques anatomiques et physiologiques notamment les chromosomes, l'expression génique, les hormones ainsi que l'anatomie reproductive ou sexuelle.  2, record 48, French, - personne%20intersexu%C3%A9e

Record number: 48, Textual support number: 2 OBS

personne intersexuée; personne intersexe : Les termes «personne intersexuée» et «personne intersexe» ne se rapportent ni à l'orientation sexuelle ni au genre.  2, record 48, French, - personne%20intersexu%C3%A9e

Record 48,  Textual support,  Spanish

Record number: 48, Textual support number: 1 CONT

Las personas intersexuales son las que han nacido con una gama de variaciones naturales en sus características sexuales que no encajan en las definiciones tradicionales de masculino o femenino, lo que abarca la anatomía sexual, los órganos reproductivos o los patrones cromosomáticos.  2, record 48, Spanish, - intersexual

Record 49,  Textual support,  English

Record number: 49, Textual support number: 1 DEF

The state of a person whose anatomical and physiological characteristics do not meet the medical criteria of the male or female sex.  2, record 49, English, - intersexuality

Record number: 49, Textual support number: 1 OBS

Anatomical and physiological characteristics include chromosomes, gene expression, hormones, and reproductive or sexual anatomy.  2, record 49, English, - intersexuality

Record number: 49, Textual support number: 2 OBS

intersexuality: This term does not refer to sexual orientation or gender.  2, record 49, English, - intersexuality

Record 49,  Textual support,  French

Record number: 49, Textual support number: 1 DEF

État d'une personne dont les caractéristiques anatomiques et physiologiques ne répondent pas aux critères médicaux du sexe féminin ou masculin.  1, record 49, French, - intersexuation

Record number: 49, Textual support number: 1 OBS

On entend par caractéristiques anatomiques et physiologiques notamment les chromosomes, l'expression génique, les hormones ainsi que l'anatomie reproductive ou sexuelle.  1, record 49, French, - intersexuation

Record number: 49, Textual support number: 2 OBS

intersexuation; intersexualité : Ces termes ne se rapportent ni à l'orientation sexuelle ni au genre.  1, record 49, French, - intersexuation

Record number: 49, Textual support number: 3 OBS

intersexuation; intersexualité : Bien que le terme «intersexualité» soit encore employé, il peut porter à confusion puisque l'élément «sexualité» peut laisser entendre qu'il s'agit d'une orientation sexuelle. Pour cette raison, certaines personnes préfèrent utiliser «intersexuation».  1, record 49, French, - intersexuation