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- Publications
- Influence
Genetic studies of body mass index yield new insights for obesity biology
- A. Locke, Bratati Kahali, +479 authors E. K. Speliotes
- Biology, Medicine
- Nature
- 12 February 2015
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass… Expand
Human Hypertension Caused by Mutations in WNK Kinases
- F. H. Wilson, S. Disse-Nicodème, +16 authors R. Lifton
- Biology, Medicine
- Science
- 10 August 2001
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal… Expand
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
- M. Krauthammer, Y. Kong, +27 authors R. Halaban
- Biology, Medicine
- Nature Genetics
- 9 July 2012
We characterized the mutational landscape of melanoma, the form of skin cancer with the highest mortality rate, by sequencing the exomes of 147 melanomas. Sun-exposed melanomas had markedly more… Expand
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- S. Sanders, M. Murtha, +27 authors M. State
- Biology, Medicine
- Nature
- 10 May 2012
Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified… Expand
Molecular basis of human hypertension: Role of angiotensinogen
- X. Jeunemaître, F. Soubrier, Y. Kotelevtsev, R. Lifton, P. Corvol
- Biology, Medicine
- Cell
- 2 October 1992
Essential hypertension is a common human disease believed to result from the interplay of multiple genetic and environmental determinants. In genetic studies of two large panels of hypertensive… Expand
K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Potassium channel mutations drive both cell growth and hormone production in an adrenal tumor that causes severe hypertension. Endocrine tumors such as aldosterone-producing adrenal adenomas (APAs),… Expand
Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities
Hypertension affects one billion people and is a principal reversible risk factor for cardiovascular disease. Pseudohypoaldosteronism type II (PHAII), a rare Mendelian syndrome featuring… Expand
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.
- D. B. Simón, Y. Lu, +11 authors R. Lifton
- Chemistry, Medicine
- Science
- 2 July 1999
Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells. Tight junctions constitute the barrier to… Expand
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
- Jesse F Abelson, K. Kwan, +21 authors M. State
- Biology, Medicine
- Science
- 14 October 2005
Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate… Expand
New genetic loci link adipose and insulin biology to body fat distribution
- D. Shungin, T. Winkler, +403 authors K. Mohlke
- Biology, Medicine
- Nature
- 16 December 2014
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body… Expand