Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Identifieur interne : 003919 ( Main/Exploration ); précédent : 003918; suivant : 003920Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Auteurs : Julie Demars [France] ; Mansur Ennuri Shmela [Australie] ; Abdul Waheed Khan [Australie] ; Kai Syin Lee [Australie] ; Salah Azzi [France] ; Patrice Dehais [France] ; Irène Netchine [France] ; Sylvie Rossignol [France] ; Yves Le Bouc [France] ; Assam El-Osta [Australie] ; Christine Gicquel [Australie]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2014.
Descripteurs français
- KwdFr :
- Canal potassique KCNQ1 (génétique), Canal potassique KCNQ1 (métabolisme), Femelle, Haplotypes (génétique), Humains, Introns (génétique), Mutation (génétique), Mâle, Méthylation de l'ADN (génétique), Protéines de répression (métabolisme), Sites de fixation (génétique), Syndrome de Beckwith-Wiedemann (génétique).
- MESH :
- génétique : Canal potassique KCNQ1, Haplotypes, Introns, Mutation, Méthylation de l'ADN, Sites de fixation, Syndrome de Beckwith-Wiedemann.
- métabolisme : Canal potassique KCNQ1, Protéines de répression.
- Femelle, Humains, Mâle.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : KCNQ1 Potassium Channel.
- genetics : Beckwith-Wiedemann Syndrome, Binding Sites, DNA Methylation, Haplotypes, Introns, Mutation.
- chemical , metabolism : KCNQ1 Potassium Channel, Repressor Proteins.
- Female, Humans, Male.
Abstract
Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor.
DOI: 10.1136/jmedgenet-2014-102368
PubMed: 24996904
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003578
- to stream PubMed, to step Curation: 003465
- to stream PubMed, to step Checkpoint: 003465
- to stream Ncbi, to step Merge: 001C01
- to stream Ncbi, to step Curation: 001C01
- to stream Ncbi, to step Checkpoint: 001C01
- to stream Main, to step Merge: 003955
- to stream Main, to step Curation: 003919
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.</title><author><name sortKey="Demars, Julie" sort="Demars, Julie" uniqKey="Demars J" first="Julie" last="Demars">Julie Demars</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Shmela, Mansur Ennuri" sort="Shmela, Mansur Ennuri" uniqKey="Shmela M" first="Mansur Ennuri" last="Shmela">Mansur Ennuri Shmela</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Khan, Abdul Waheed" sort="Khan, Abdul Waheed" uniqKey="Khan A" first="Abdul Waheed" last="Khan">Abdul Waheed Khan</name><affiliation wicri:level="4"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Lee, Kai Syin" sort="Lee, Kai Syin" uniqKey="Lee K" first="Kai Syin" last="Lee">Kai Syin Lee</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Dehais, Patrice" sort="Dehais, Patrice" uniqKey="Dehais P" first="Patrice" last="Dehais">Patrice Dehais</name><affiliation wicri:level="1"><nlm:affiliation>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Le Bouc, Yves" sort="Le Bouc, Yves" uniqKey="Le Bouc Y" first="Yves" last="Le Bouc">Yves Le Bouc</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="El Osta, Assam" sort="El Osta, Assam" uniqKey="El Osta A" first="Assam" last="El-Osta">Assam El-Osta</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><wicri:noRegion>Parkville</wicri:noRegion></affiliation></author><author><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24996904</idno><idno type="pmid">24996904</idno><idno type="doi">10.1136/jmedgenet-2014-102368</idno><idno type="wicri:Area/PubMed/Corpus">003578</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003578</idno><idno type="wicri:Area/PubMed/Curation">003465</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003465</idno><idno type="wicri:Area/PubMed/Checkpoint">003465</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003465</idno><idno type="wicri:Area/Ncbi/Merge">001C01</idno><idno type="wicri:Area/Ncbi/Curation">001C01</idno><idno type="wicri:Area/Ncbi/Checkpoint">001C01</idno><idno type="wicri:Area/Main/Merge">003955</idno><idno type="wicri:Area/Main/Curation">003919</idno><idno type="wicri:Area/Main/Exploration">003919</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.</title><author><name sortKey="Demars, Julie" sort="Demars, Julie" uniqKey="Demars J" first="Julie" last="Demars">Julie Demars</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Shmela, Mansur Ennuri" sort="Shmela, Mansur Ennuri" uniqKey="Shmela M" first="Mansur Ennuri" last="Shmela">Mansur Ennuri Shmela</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Khan, Abdul Waheed" sort="Khan, Abdul Waheed" uniqKey="Khan A" first="Abdul Waheed" last="Khan">Abdul Waheed Khan</name><affiliation wicri:level="4"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Lee, Kai Syin" sort="Lee, Kai Syin" uniqKey="Lee K" first="Kai Syin" last="Lee">Kai Syin Lee</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Dehais, Patrice" sort="Dehais, Patrice" uniqKey="Dehais P" first="Patrice" last="Dehais">Patrice Dehais</name><affiliation wicri:level="1"><nlm:affiliation>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, GenPhySE (Génétique, Physiologie et Systèmes d'Elevage), Castanet-Tolosan</wicri:regionArea><wicri:noRegion>Castanet-Tolosan</wicri:noRegion><wicri:noRegion>Castanet-Tolosan</wicri:noRegion></affiliation></author><author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Le Bouc, Yves" sort="Le Bouc, Yves" uniqKey="Le Bouc Y" first="Yves" last="Le Bouc">Yves Le Bouc</name><affiliation wicri:level="3"><nlm:affiliation>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Armand Trousseau Hôpital, Pediatric Endocrinology, INSERM, UMR_S 938, CDR Saint-Antoine, F-75012, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, F-75012, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="El Osta, Assam" sort="El Osta, Assam" uniqKey="El Osta A" first="Assam" last="El-Osta">Assam El-Osta</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia University of Melbourne, Parkville</wicri:regionArea><wicri:noRegion>Parkville</wicri:noRegion></affiliation></author><author><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><affiliation wicri:level="1"><nlm:affiliation>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Beckwith-Wiedemann Syndrome (genetics)</term><term>Binding Sites (genetics)</term><term>DNA Methylation (genetics)</term><term>Female</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Introns (genetics)</term><term>KCNQ1 Potassium Channel (genetics)</term><term>KCNQ1 Potassium Channel (metabolism)</term><term>Male</term><term>Mutation (genetics)</term><term>Repressor Proteins (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Canal potassique KCNQ1 (génétique)</term><term>Canal potassique KCNQ1 (métabolisme)</term><term>Femelle</term><term>Haplotypes (génétique)</term><term>Humains</term><term>Introns (génétique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Méthylation de l'ADN (génétique)</term><term>Protéines de répression (métabolisme)</term><term>Sites de fixation (génétique)</term><term>Syndrome de Beckwith-Wiedemann (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>KCNQ1 Potassium Channel</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term><term>Binding Sites</term><term>DNA Methylation</term><term>Haplotypes</term><term>Introns</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Canal potassique KCNQ1</term><term>Haplotypes</term><term>Introns</term><term>Mutation</term><term>Méthylation de l'ADN</term><term>Sites de fixation</term><term>Syndrome de Beckwith-Wiedemann</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>KCNQ1 Potassium Channel</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Canal potassique KCNQ1</term><term>Protéines de répression</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Femelle</term><term>Humains</term><term>Mâle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS; MIM 130650) and the Silver-Russell (SRS; MIM 180860) syndromes. DNA methylation defects account for 60% of BWS and SRS cases and, in most cases, occur without any identified mutation in a cis-acting regulatory sequence or a trans-acting factor.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Melbourne</li><li>Paris</li></settlement><orgName><li>Université de Melbourne</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Demars, Julie" sort="Demars, Julie" uniqKey="Demars J" first="Julie" last="Demars">Julie Demars</name></noRegion><name sortKey="Azzi, Salah" sort="Azzi, Salah" uniqKey="Azzi S" first="Salah" last="Azzi">Salah Azzi</name><name sortKey="Dehais, Patrice" sort="Dehais, Patrice" uniqKey="Dehais P" first="Patrice" last="Dehais">Patrice Dehais</name><name sortKey="Le Bouc, Yves" sort="Le Bouc, Yves" uniqKey="Le Bouc Y" first="Yves" last="Le Bouc">Yves Le Bouc</name><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name><name sortKey="Rossignol, Sylvie" sort="Rossignol, Sylvie" uniqKey="Rossignol S" first="Sylvie" last="Rossignol">Sylvie Rossignol</name></country><country name="Australie"><noRegion><name sortKey="Shmela, Mansur Ennuri" sort="Shmela, Mansur Ennuri" uniqKey="Shmela M" first="Mansur Ennuri" last="Shmela">Mansur Ennuri Shmela</name></noRegion><name sortKey="El Osta, Assam" sort="El Osta, Assam" uniqKey="El Osta A" first="Assam" last="El-Osta">Assam El-Osta</name><name sortKey="Gicquel, Christine" sort="Gicquel, Christine" uniqKey="Gicquel C" first="Christine" last="Gicquel">Christine Gicquel</name><name sortKey="Khan, Abdul Waheed" sort="Khan, Abdul Waheed" uniqKey="Khan A" first="Abdul Waheed" last="Khan">Abdul Waheed Khan</name><name sortKey="Lee, Kai Syin" sort="Lee, Kai Syin" uniqKey="Lee K" first="Kai Syin" last="Lee">Kai Syin Lee</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003919 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003919 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:24996904
|texte= Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24996904" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |