G
Gwenaelle Carn
Researcher at Indiana University
Publications - 4
Citations - 888
Gwenaelle Carn is an academic researcher from Indiana University. The author has contributed to research in topics: Autosomal dominant hypophosphatemic rickets & Hypophosphatemic Rickets. The author has an hindex of 4, co-authored 4 publications receiving 852 citations. Previous affiliations of Gwenaelle Carn include Technische Universität München.
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Journal ArticleDOI
Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23
Kenneth E. White,Gwenaelle Carn,Gwenaelle Carn,Bettina Lorenz-Depiereux,Bettina Lorenz-Depiereux,Anna Benet-Pagès,Anna Benet-Pagès,Tim M. Strom,Tim M. Strom,Michael J. Econs,Michael J. Econs +10 more
TL;DR: FGF-23 proteins containing the ADHR mutations are secreted, and produce polypeptides less sensitive to protease cleavage than wild-type FGF- 23, thereby potentially elevating circulating concentrations of F GF-23 and leading to phosphate wasting in ADHR patients.
Journal ArticleDOI
The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting
Kenneth E. White,Kenneth B. Jonsson,Gwenaelle Carn,Geeta Hampson,Tim D. Spector,Michael Mannstadt,Bettina Lorenz-Depiereux,Akimitsu Miyauchi,In Myung Yang,Östen Ljunggren,Thomas Meitinger,Tim M. Strom,Harald Jüppner,Michael J. Econs +13 more
TL;DR: FGF-23, the gene mutated in ADHR, is a secreted protein and its mRNA is abundantly expressed by several different OHO tumors, indicating that FGF- 23 may be a candidate phosphate wasting factor, previously designated "phosphatonin".
Journal ArticleDOI
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
Steven G. Waguespack,Daniel L. Koller,Kenneth E. White,Tonya Fishburn,Gwenaelle Carn,Kenneth A. Buckwalter,Michelle L. Johnson,Maureen Kocisko,Wayne E. Evans,Tatiana Foroud,Michael J. Econs +10 more
TL;DR: In 11 of 12 kindreds, five different missense mutations were identified in the ClCN7 gene, indicating the genetic basis and possible dominant negative mechanism for ADO2.
Journal ArticleDOI
Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13.
Gwenaelle Carn,Daniel L. Koller,Munro Peacock,Siu L. Hui,Wayne E. Evans,P. Michael Conneally,C. Conrad Johnston,Tatiana Foroud,Michael J. Econs +8 more
TL;DR: Linkage data suggest that the chromosomal region that contains OC116 harbors a gene that affects peak BMD, but association results indicate that polymorphisms in the OC116 gene do not affect peak B MD.