A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Caveolin-1, cellular senescence and pulmonary emphysema

(2016) Daniela Volonte et al.   Aging-US

Accelerated aging syndromes, are they relevant to normal human aging?

(2016) Oliver Dreesen et al.   Aging-US

Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome

(2015) Abhimanyu Garg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reference values for leptin and adiponectin in children below the age of 10 based on the IDEFICS cohort

(2014) E Erhardt et al.   INTERNATIONAL JOURNAL OF OBESITY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Lipin-1 and lipin-3 together determine adiposity in vivo

(2013) Lauren S. Csaki et al.   Molecular Metabolism

Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension

(2012) Eric D. Austin et al.   Circulation-Cardiovascular Genetics

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Caveolin-1 Deficiency Leads to Increased Susceptibility to Cell Death and Fibrosis in White Adipose Tissue: Characterization of a Lipodystrophic Model

(2012) Sally Martin et al.   PLoS One

Caveolin-1 mediates Fas–BID signaling in hyperoxia-induced apoptosis

(2011) Meng Zhang et al.   FREE RADICAL BIOLOGY AND MEDICINE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Studies of association between LPIN1 variants and common metabolic phenotypes among 17 538 Danes

(2010) Kristoffer Sølvsten Burgdorf et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Reactome: a database of reactions, pathways and biological processes

(2010) D. Croft et al.   NUCLEIC ACIDS RESEARCH

Pathology of Congenital Generalized Lipodystrophy in Agpat2–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

How the Fanconi Anemia Pathway Guards the Genome

(2009) George-Lucian Moldovan et al.   Annual Review of Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Persistent eNOS activation secondary to caveolin-1 deficiency induces pulmonary hypertension in mice and humans through PKG nitration

(2009) You-Yang Zhao et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

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

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

(2008) Henian Cao et al.   Lipids in Health and Disease