Matches in SemOpenAlex for { <https://semopenalex.org/work/W1997151909> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W1997151909 endingPage "S7" @default.
- W1997151909 startingPage "S3" @default.
- W1997151909 abstract "La mucoviscidose se définit comme la plus fréquente des maladies génétiques graves de l'enfant dans les populations caucasiennes. La découverte du gène responsable – le gène CFTR (Cystic Fibrosis Transmembrane conductance Regulator) – il y a plus de 20 ans permet aujourd'hui de mieux comprendre la physiopathologie de cette maladie. La mucoviscidose se caractérise par une grande variabilité phénotypique et les mutations de CFTR ne peuvent expliquer à elles seules toute la variabilité observée. Il a donc été évoqué l'implication de facteurs d'environnement et de gènes modificateurs. Des variants génétiques codant pour des gènes impliqués dans la physiopathologie de la maladie ont été étudiés, notamment des gènes de l'immunité ou de la réponse inflammatoire. Certains de ces gènes ont en effet été montrés comme influençant la sévérité de la maladie. Une nouvelle approche a également été développée consistant à réaliser l'étude du génome entier. Cette revue a pour objectif de faire le point sur la génétique de la mucoviscidose dans ses présentations classique et atypique, ainsi que sur les travaux réalisés dans le domaine des gènes modificateurs. Cystic fibrosis (CF) is defined as the most common life shortening genetic disorder in the Caucasian populations. The cloning of the gene responsible for the disease – the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene – twenty years ago has greatly improved our knowledge of the pathophysiology of CF. That disease is characterized by a highly phenotypic variability and the CFTR mutations cannot explain all the variability observed in the disease severity. The possible influence of the environment and modifier genes has therefore been evocated. Several genetic variants coding for genes involved in the physiopathology of the disease have been studied, like genes involve in the immunity and the inflammatory response. Some of these genes have indeed been shown to influence the disease severity. A new approach has also been developed, analyzing the whole genome. This review summarizes the genetic basis of CF in its classical and atypical forms, as well as the work performed in the field of modifier genes." @default.
- W1997151909 created "2016-06-24" @default.
- W1997151909 creator A5007768330 @default.
- W1997151909 creator A5011775227 @default.
- W1997151909 creator A5028565837 @default.
- W1997151909 creator A5066521398 @default.
- W1997151909 date "2012-05-01" @default.
- W1997151909 modified "2023-10-16" @default.
- W1997151909 title "Génétique et gènes modificateurs, formes atypiques et rares" @default.
- W1997151909 cites W1526775624 @default.
- W1997151909 cites W185124257 @default.
- W1997151909 cites W1899670941 @default.
- W1997151909 cites W1967063520 @default.
- W1997151909 cites W1969697265 @default.
- W1997151909 cites W1979451256 @default.
- W1997151909 cites W1980180966 @default.
- W1997151909 cites W1984115286 @default.
- W1997151909 cites W1991812860 @default.
- W1997151909 cites W1996245529 @default.
- W1997151909 cites W1999664569 @default.
- W1997151909 cites W2014679781 @default.
- W1997151909 cites W2021145168 @default.
- W1997151909 cites W2029216301 @default.
- W1997151909 cites W2030674922 @default.
- W1997151909 cites W2036091825 @default.
- W1997151909 cites W2042179107 @default.
- W1997151909 cites W2049637347 @default.
- W1997151909 cites W2050573110 @default.
- W1997151909 cites W2052588826 @default.
- W1997151909 cites W2061309104 @default.
- W1997151909 cites W2072036660 @default.
- W1997151909 cites W2076341094 @default.
- W1997151909 cites W2085236767 @default.
- W1997151909 cites W2086479699 @default.
- W1997151909 cites W2087318282 @default.
- W1997151909 cites W2097422495 @default.
- W1997151909 cites W2104953797 @default.
- W1997151909 cites W2111178282 @default.
- W1997151909 cites W2116365881 @default.
- W1997151909 cites W2120478186 @default.
- W1997151909 cites W2125530309 @default.
- W1997151909 cites W2126609769 @default.
- W1997151909 cites W2131328125 @default.
- W1997151909 cites W2143827621 @default.
- W1997151909 cites W2144375300 @default.
- W1997151909 cites W2158925661 @default.
- W1997151909 cites W2166496433 @default.
- W1997151909 cites W2167333686 @default.
- W1997151909 cites W2167412015 @default.
- W1997151909 cites W2167484059 @default.
- W1997151909 cites W2313949504 @default.
- W1997151909 cites W2337925307 @default.
- W1997151909 doi "https://doi.org/10.1016/s0929-693x(12)71099-0" @default.
- W1997151909 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22682487" @default.
- W1997151909 hasPublicationYear "2012" @default.
- W1997151909 type Work @default.
- W1997151909 sameAs 1997151909 @default.
- W1997151909 citedByCount "4" @default.
- W1997151909 countsByYear W19971519092013 @default.
- W1997151909 countsByYear W19971519092015 @default.
- W1997151909 countsByYear W19971519092021 @default.
- W1997151909 countsByYear W19971519092022 @default.
- W1997151909 crossrefType "journal-article" @default.
- W1997151909 hasAuthorship W1997151909A5007768330 @default.
- W1997151909 hasAuthorship W1997151909A5011775227 @default.
- W1997151909 hasAuthorship W1997151909A5028565837 @default.
- W1997151909 hasAuthorship W1997151909A5066521398 @default.
- W1997151909 hasConcept C153911025 @default.
- W1997151909 hasConcept C2776938444 @default.
- W1997151909 hasConcept C2778428886 @default.
- W1997151909 hasConcept C54355233 @default.
- W1997151909 hasConcept C86803240 @default.
- W1997151909 hasConceptScore W1997151909C153911025 @default.
- W1997151909 hasConceptScore W1997151909C2776938444 @default.
- W1997151909 hasConceptScore W1997151909C2778428886 @default.
- W1997151909 hasConceptScore W1997151909C54355233 @default.
- W1997151909 hasConceptScore W1997151909C86803240 @default.
- W1997151909 hasLocation W19971519091 @default.
- W1997151909 hasLocation W19971519092 @default.
- W1997151909 hasLocation W19971519093 @default.
- W1997151909 hasLocation W19971519094 @default.
- W1997151909 hasOpenAccess W1997151909 @default.
- W1997151909 hasPrimaryLocation W19971519091 @default.
- W1997151909 hasRelatedWork W1502436954 @default.
- W1997151909 hasRelatedWork W1987140292 @default.
- W1997151909 hasRelatedWork W2011312325 @default.
- W1997151909 hasRelatedWork W2012280093 @default.
- W1997151909 hasRelatedWork W2034387362 @default.
- W1997151909 hasRelatedWork W2042700541 @default.
- W1997151909 hasRelatedWork W2137006241 @default.
- W1997151909 hasRelatedWork W2314403503 @default.
- W1997151909 hasRelatedWork W3020651657 @default.
- W1997151909 hasRelatedWork W4361190268 @default.
- W1997151909 hasVolume "19" @default.
- W1997151909 isParatext "false" @default.
- W1997151909 isRetracted "false" @default.
- W1997151909 magId "1997151909" @default.
- W1997151909 workType "article" @default.