Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Lipodystrophies: Disorders of adipose tissue biology

(2009) Abhimanyu Garg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

(2009) Yukiko K. Hayashi et al.   JOURNAL OF CLINICAL INVESTIGATION

SDPR induces membrane curvature and functions in the formation of caveolae

(2009) Carsten G. Hansen et al.   NATURE CELL BIOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Caveolae, ion channels and cardiac arrhythmias

(2009) Ravi C. Balijepalli et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

(2008) Vinaya Simha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of caveolin-1 in the regulation of lipoprotein metabolism

(2008) Philippe G. Frank et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

PTRF-Cavin, a Conserved Cytoplasmic Protein Required for Caveola Formation and Function

(2008) Michelle M. Hill et al.   CELL

Deletion of Cavin/PTRF Causes Global Loss of Caveolae, Dyslipidemia, and Glucose Intolerance

(2008) Libin Liu et al.   Cell Metabolism

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

(2008) C. A. Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Congenital long QT syndrome

(2008) Lia Crotti et al.   Orphanet Journal of Rare Diseases

GeneDistiller—Distilling Candidate Genes from Linkage Intervals

(2008) Dominik Seelow et al.   PLoS One