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Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport functionMONETTE, Michelle Y; RINEHART, Jesse; LIFTON, Richard P et al.American journal of physiology. Renal physiology. 2011, Vol 69, Num 4, issn 1931-857X, F840-F847Article

Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch : Endocrine hypertensionKAHLE, Kristopher T; WILSON, Frederick H; LIFTON, Richard P et al.Trends in endocrinology and metabolism. 2005, Vol 16, Num 3, pp 98-103, issn 1043-2760, 6 p.Article

Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysisLO, Sarah M; CHOI, Murim; LIFTON, Richard P et al.Blood. 2012, Vol 119, Num 20, pp 4731-4740, issn 0006-4971, 10 p.Article

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubuleLALIOTI, Maria D; JUNHUI ZHANG; YIN LU et al.Nature genetics. 2006, Vol 38, Num 10, pp 1124-1132, issn 1061-4036, 9 p.Article

Sequence variants in SLITRK1 are associated with Tourette's syndromeABELSON, Jesse F; KWAN, Kenneth Y; DAVIS, Nicole R et al.Science (Washington, D.C.). 2005, Vol 310, Num 5746, pp 317-320, issn 0036-8075, 4 p.Article

Mutations in SEC63 cause autosomal dominant polycystic liver diseaseDAVILA, Sonia; FURU, Laszlo; AZURMENDI, Pablo J et al.Nature genetics. 2004, Vol 36, Num 6, pp 575-577, issn 1061-4036, 3 p.Article

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosisSTEHBERGER, Paul A; SCHULZ, Nicole; FINBERG, Karin E et al.Journal of the American Society of Nephrology. 2003, Vol 14, Num 12, pp 3027-3038, issn 1046-6673, 12 p.Article

Evidence for a gene influencing blood pressure on chromosome 17 : Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham Heart StudyLEVY, Daniel; DESTEFANO, Anita L; LARSON, Martin G et al.Hypertension (Dallas, Tex. 1979). 2000, Vol 36, Num 4, pp 477-483, issn 0194-911XConference Paper

Exome sequencing identifies recurrent somatic RAC1 mutations in melanomaKRAUTHAMMER, Michael; YONGKONG; ARIYAN, Stephan et al.Nature genetics. 2012, Vol 44, Num 9, pp 1006-1014, issn 1061-4036, 9 p.Article

De novo mutations revealed by whole-exome sequencing are strongly associated with autismSANDERS, Stephan J; MURTHA, Michael T; WALKER, Michael F et al.Nature (London). 2012, Vol 485, Num 7397, pp 237-241, issn 0028-0836, 5 p.Article

Accelerated development of collapsing glomerulopathy in mice congenic for the HIVAN1 locusCHAN, Ka T; PAPETA, Natalia; MARTINO, Jeremiah et al.Kidney international. 2009, Vol 75, Num 4, pp 366-372, issn 0085-2538, 7 p.Article

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish populationTÜYSÜZ, Beyhan; BAYRAKLI, Fatih; OZTURK, Ali K et al.Neurogenetics (Oxford. Print). 2008, Vol 9, Num 2, pp 119-125, issn 1364-6745, 7 p.Article

A novel protein kinase signaling pathway essential for blood pressure regulation in humansKAHLE, Kristopher T; RINEHART, Jesse; GIEBISCH, Gerhard et al.Trends in endocrinology and metabolism. 2008, Vol 19, Num 3, pp 91-95, issn 1043-2760, 5 p.Conference Paper

Autosomal dominant pseudohypoaldosteronism type 1 : Mechanisms, evidence for neonatal lethality, and phenotypic expression in adultsGELLER, David S; JUNHUI ZHANG; HAQQ, Andrea M et al.Journal of the American Society of Nephrology. 2006, Vol 17, Num 5, pp 1429-1436, issn 1046-6673, 8 p.Article

Evaluating potential for whole-genome studies in Kosrae, an isolated population in MicronesiaBONNEN, Penelope E; PE'ER, Itsik; JONES, Keith W et al.Nature genetics. 2006, Vol 38, Num 2, pp 214-217, issn 1061-4036, 4 p.Article

Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base statusWAGNER, Carsten A; FINBERG, Karin E; STEHBERGER, Paul A et al.Kidney international. 2002, Vol 62, Num 6, pp 2109-2117, issn 0085-2538, 9 p.Article

Genome-wide association study identifies susceptibility loci for IgA nephropathyGHARAVI, Ali G; KIRYLUK, Krzysztof; NOVAK, Jan et al.Nature genetics. 2011, Vol 43, Num 4, pp 321-327, issn 1061-4036, 7 p.Article

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary HypertensionCHOI, Murim; SCHOLL, Ute I; LOLIS, Elias et al.Science (Washington, D.C.). 2011, Vol 331, Num 6018, pp 768-772, issn 0036-8075, 5 p.Article

A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable AldosteronismGELLER, David S; JUNHUI ZHANG; WISGERHOF, Max V et al.The Journal of clinical endocrinology and metabolism. 2008, Vol 93, Num 8, pp 3117-3123, issn 0021-972X, 7 p.Article

Aberrant IgA1 Glycosylation Is Inherited in Familial and Sporadic IgA NephropathyGHARAVI, Ali G; MOLDOVEANU, Zina; WYATT, Robert J et al.Journal of the American Society of Nephrology. 2008, Vol 19, Num 5, pp 1008-1014, issn 1046-6673, 7 p.Article

Rare independent mutations in renal salt handling genes contribute to blood pressure variationWEIZHEN JI; JIA NEE FOO; O'ROAK, Brian J et al.Nature genetics. 2008, Vol 40, Num 5, pp 592-599, issn 1061-4036, 8 p.Article

A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly : Laboratory investigationBILGUVAR, Kaya; BYDON, Mohamad; STATE, Matthew et al.Journal of neurosurgery. Pediatrics. 2007, Vol 107, Num 6, pp 495-499, issn 1933-0707, 5 p.Article

Mutational analysis of 206 families with cavernous malformationsLAURANS, Maxwell S. H; DILUNA, Michael L; SCOTT, R. Michael et al.Journal of neurosurgery. 2003, Vol 99, Num 1, pp 38-43, issn 0022-3085, 6 p.Article

WNK4 regulates the balance between renal NaCI reabsorption and K+ secretionKAHLE, Kristopher T; WILSON, Frederick H; LIFTON, Richard P et al.Nature genetics. 2003, Vol 35, Num 4, pp 372-376, issn 1061-4036, 5 p.Article

Human hypertension caused by mutations in WNK kinasesWILSON, Frederick H; DISSE-NICODEME, Sandra; FEELY, Morgan P et al.Science (Washington, D.C.). 2001, Vol 293, Num 5532, pp 1107-1112, issn 0036-8075Article

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