R
Robert Barnes
Researcher at University of Texas Southwestern Medical Center
Publications - 28
Citations - 6664
Robert Barnes is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Locus (genetics) & Genetic linkage. The author has an hindex of 16, co-authored 28 publications receiving 6350 citations. Previous affiliations of Robert Barnes include University of Texas System.
Papers
More filters
Journal ArticleDOI
Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters
Knut Erik Berge,Hui Tian,Gregory A. Graf,Liqing Yu,Nick V. Grishin,Joshua Schultz,Peter Kwiterovich,Bei Shan,Robert Barnes,Helen H. Hobbs +9 more
TL;DR: Data suggest that ABCG5 and ABCG8 normally cooperate to limit intestinal absorption and to promote biliary excretion of sterols, and that mutated forms of these transporters predispose to sterol accumulation and atherosclerosis.
Journal ArticleDOI
Mutations in NOTCH1 cause aortic valve disease
Vidu Garg,Vidu Garg,Alecia N. Muth,Alecia N. Muth,Joshua F. Ransom,Joshua F. Ransom,Marie K. Schluterman,Robert Barnes,Isabelle N. King,Isabelle N. King,Isabelle N. King,Paul Grossfeld,Deepak Srivastava +12 more
TL;DR: It is shown that mutations in the signalling and transcriptional regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in non-syndromic autosomal-dominant human pedigrees.
Journal ArticleDOI
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
Vidu Garg,Irfan S. Kathiriya,Robert Barnes,Marie K. Schluterman,Isabelle N. King,Cheryl A. Butler,Caryn R. Rothrock,Reenu S. Eapen,Kayoko Hirayama-Yamada,Kunitaka Joo,Rumiko Matsuoka,Jonathan Cohen,Deepak Srivastava +12 more
TL;DR: It is shown that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23 and implicate GATA4 as a genetic cause of human cardiac sePTal defects, perhaps through its interaction with TBX5.
Journal ArticleDOI
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Christine Kim Garcia,Kenneth R. Wilund,Marcello Arca,Giovanni Zuliani,Renato Fellin,Mario Maioli,Sebastiano Calandra,Stefano Bertolini,Fausto Cossu,Nick V. Grishin,Robert Barnes,Jonathan Cohen,Helen H. Hobbs +12 more
TL;DR: ARH appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts, and six mutations in a gene encoding a putative adaptor protein (ARH) are identified.
Journal ArticleDOI
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Anil K. Agarwal,Elif Arioglu,Salome De Almeida,Nurullah Akkoc,Simeon I. Taylor,Anne M. Bowcock,Robert Barnes,Abhimanyu Garg +7 more
TL;DR: It is concluded that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes.