C
Claudine Junien
Researcher at Centre national de la recherche scientifique
Publications - 201
Citations - 15729
Claudine Junien is an academic researcher from Centre national de la recherche scientifique. The author has contributed to research in topics: Gene & Wilms' tumor. The author has an hindex of 63, co-authored 200 publications receiving 14997 citations. Previous affiliations of Claudine Junien include Institut national de la recherche agronomique & Necker-Enfants Malades Hospital.
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Journal ArticleDOI
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Marianne Abifadel,Mathilde Varret,Jean-Pierre Rabès,Delphine Allard,Khadija Ouguerram,Martine Devillers,Corinne Cruaud,Suzanne Benjannet,Louise Wickham,D. Erlich,Aurélie Derré,Ludovic Villéger,Michel Farnier,Isabel Beucler,Eric Bruckert,Jean Chambaz,Bernard Chanu,Jean-Michel Lecerf,Gérald Luc,Philippe Moulin,Jean Weissenbach,Annick Prat,Michel Krempf,Claudine Junien,Nabil G. Seidah,Catherine Boileau +25 more
TL;DR: Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
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Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
Jerry Pelletier,Jerry Pelletier,Wendy Bruening,Clifford E. Kashtan,S. Michael Mauer,J. Carlos Manivel,Jane E. Striegel,Donald C. Houghton,Claudine Junien,Renée Habib,Laurie Fouser,Richard N. Fine,Bernard L. Silverman,Daniel A. Haber,Daniel A. Haber,David E. Housman +15 more
TL;DR: Analysis of coding exons of the Wilms' tumor suppressor gene (WT1) for germline mutations provides evidence of a direct role for WT1 in Denys-Drash syndrome and thus urogenital system development.
Journal ArticleDOI
Heterozygous TGFBR2 mutations in Marfan syndrome
Takeshi Mizuguchi,Gwenaëlle Collod-Béroud,Takushi Akiyama,Marianne Abifadel,Naoki Harada,Takayuki Morisaki,Delphine Allard,Mathilde Varret,Mireille Claustres,Hiroko Morisaki,Makoto Ihara,Akira Kinoshita,Koh-ichiro Yoshiura,Claudine Junien,Tadashi Kajii,Guillaume Jondeau,Tohru Ohta,Tohru Ohta,Tatsuya Kishino,Yoichi Furukawa,Yusuke Nakamura,Norio Niikawa,Catherine Boileau,Naomichi Matsumoto,Naomichi Matsumoto +24 more
TL;DR: Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.
Journal ArticleDOI
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
I. Henry,Catherine Bonaïti-Pellié,V. Chehensse,C. Beldjord,Charles E. Schwartz,G. Utermann,Claudine Junien +6 more
TL;DR: It is shown that uniparental paternal disomy can be associated with a genetic cancer-predisposing syndrome and an overall greatly increased frequency of homozygosity for several 11p15.5 markers in 21 sporadic BWS patients suggests that isodisomy probably accounts for an even higher proportion of BWS sporadic cases.
Journal ArticleDOI
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Gwenaëlle Collod-Béroud,Saga Le Bourdelles,Lesley C. Adès,Lesley C. Adès,Leena Ala-Kokko,Leena Ala-Kokko,Patrick Booms,Maureen Boxer,Anne H. Child,P Comeglio,Anne De Paepe,James C. Hyland,Katerine Holman,Ilkka Kaitila,Bart Loeys,Gabor Matyas,L Nuytinck,Leena Peltonen,Terhi Rantamäki,Peter N. Robinson,Beat Steinmann,Claudine Junien,Christophe Béroud,Catherine Boileau +23 more
TL;DR: The FBN1 mutation database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature.