Literature DB >> 8479491

Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.

J J Merendino1, A M Speigel, J D Crawford, A M O'Carroll, M J Brownstein, S J Lolait.   

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Year:  1993        PMID: 8479491     DOI: 10.1056/NEJM199305273282106

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  12 in total

1.  Heritability of serum sodium concentration: evidence for sex- and ethnic-specific effects.

Authors:  Beth Wilmot; V Saroja Voruganti; Yen-Pei C Chang; Yi Fu; Zhan Chen; Herman A Taylor; James G Wilson; Teresa Gipson; Vallabh O Shah; Jason G Umans; Michael F Flessner; Robert Hitzemann; Alan R Shuldiner; Anthony G Comuzzie; Shannon McWeeney; Philip G Zager; Jean W Maccluer; Shelley A Cole; David M Cohen
Journal:  Physiol Genomics       Date:  2011-12-20       Impact factor: 3.107

2.  Induction of aquaporin-1 mRNA following cardiopulmonary bypass and reperfusion.

Authors:  S Tabbutt; D P Nelson; N Tsai; T Miura; P R Hickey; J E Mayer; E J Neufeld
Journal:  Mol Med       Date:  1997-09       Impact factor: 6.354

3.  NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality.

Authors:  Carsten A Böger; Mathias Gorski; Gearoid M McMahon; Huichun Xu; Yen-Pei C Chang; Peter J van der Most; Gerjan Navis; Ilja M Nolte; Martin H de Borst; Weihua Zhang; Benjamin Lehne; Marie Loh; Sian-Tsung Tan; Eric Boerwinkle; Morgan E Grams; Peggy Sekula; Man Li; Beth Wilmot; James G Moon; Paul Scheet; Francesco Cucca; Xiangjun Xiao; Leo-Pekka Lyytikäinen; Graciela Delgado; Tanja B Grammer; Marcus E Kleber; Sanaz Sedaghat; Fernando Rivadeneira; Tanguy Corre; Zoltan Kutalik; Sven Bergmann; Carrie M Nielson; Priya Srikanth; Alexander Teumer; Martina Müller-Nurasyid; Anne Catharina Brockhaus; Arne Pfeufer; Wolfgang Rathmann; Annette Peters; Martha Matsumoto; Mariza de Andrade; Elizabeth J Atkinson; Cassianne Robinson-Cohen; Ian H de Boer; Shih-Jen Hwang; Iris M Heid; Martin Gögele; Maria Pina Concas; Toshiko Tanaka; Stefania Bandinelli; Mike A Nalls; Andrew Singleton; Salman M Tajuddin; Adebowale Adeyemo; Jie Zhou; Ayo Doumatey; Shannon McWeeney; Joanne Murabito; Nora Franceschini; Michael Flessner; Michael Shlipak; James G Wilson; Guanjie Chen; Charles N Rotimi; Alan B Zonderman; Michele K Evans; Luigi Ferrucci; Olivier Devuyst; Mario Pirastu; Alan Shuldiner; Andrew A Hicks; Peter Paul Pramstaller; Bryan Kestenbaum; Sharon L R Kardia; Stephen T Turner; LifeLines Cohort Study; Tamara Ellefson Briske; Christian Gieger; Konstantin Strauch; Christa Meisinger; Thomas Meitinger; Uwe Völker; Matthias Nauck; Henry Völzke; Peter Vollenweider; Murielle Bochud; Gerard Waeber; Mika Kähönen; Terho Lehtimäki; Winfried März; Abbas Dehghan; Oscar H Franco; Andre G Uitterlinden; Albert Hofman; Herman A Taylor; John C Chambers; Jaspal S Kooner; Caroline S Fox; Robert Hitzemann; Eric S Orwoll; Cristian Pattaro; David Schlessinger; Anna Köttgen; Harold Snieder; Afshin Parsa; David M Cohen
Journal:  J Am Soc Nephrol       Date:  2017-03-30       Impact factor: 10.121

Review 4.  Abnormalities in G protein-coupled signal transduction pathways in human disease.

Authors:  A M Spiegel; L S Weinstein; A Shenker
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

Review 5.  Molecular biology and its application in paediatric endocrinology.

Authors:  P E Mullis; J K Wagner
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

6.  X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

Authors:  D G Bichet; M F Arthus; M Lonergan; G N Hendy; A J Paradis; T M Fujiwara; K Morgan; M C Gregory; W Rosenthal; A Didwania
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

7.  Individuality of the plasma sodium concentration.

Authors:  Zheng Zhang; Jonathan Duckart; Christopher G Slatore; Yi Fu; Amanda F Petrik; Micah L Thorp; David M Cohen
Journal:  Am J Physiol Renal Physiol       Date:  2014-04-09

8.  Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.

Authors:  D G Bichet; M Birnbaumer; M Lonergan; M F Arthus; W Rosenthal; P Goodyer; H Nivet; S Benoit; P Giampietro; S Simonetti
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

Authors:  C Tsigos; K Arai; W Hung; G P Chrousos
Journal:  J Clin Invest       Date:  1993-11       Impact factor: 14.808

10.  Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Authors:  R S Wildin; M J Antush; R L Bennett; J M Schoof; C R Scott
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

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