Literature DB >> 30962326

GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis.

Daniel G Bichet1, Sébastien Granier2, Detlef Bockenhauer3,4.   

Abstract

Entities:  

Keywords:  GNAS, hyponatremia, nephrogenic syndrome

Mesh：

Substances：

Year:  2019        PMID： 30962326      PMCID： PMC6493987          DOI： 10.1681/ASN.2019020143

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


× No keyword cloud information.
  7 in total

1.  Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

Authors:  Mami Miyado; Maki Fukami; Shuji Takada; Miho Terao; Kazuhiko Nakabayashi; Kenichiro Hata; Yoichi Matsubara; Yoko Tanaka; Goro Sasaki; Keisuke Nagasaki; Masaaki Shiina; Kazuhiro Ogata; Youhei Masunaga; Hirotomo Saitsu; Tsutomu Ogata
Journal:  J Am Soc Nephrol       Date:  2019-04-08       Impact factor: 10.121

Review 2.  GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.

Authors:  Agnès Linglart; Stéphanie Maupetit-Méhouas; Caroline Silve
Journal:  Horm Res Paediatr       Date:  2013-03-29       Impact factor: 2.852

3.  A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Authors:  Heike Biebermann; Gunnar Kleinau; Dirk Schnabel; Detlef Bockenhauer; Louise C Wilson; Ian Tully; Sarah Kiff; Patrick Scheerer; Monica Reyes; Sarah Paisdzior; John W Gregory; Jeremy Allgrove; Heiko Krude; Michael Mannstadt; Thomas J Gardella; Mehul Dattani; Harald Jüppner; Annette Grüters
Journal:  J Clin Endocrinol Metab       Date:  2019-04-01       Impact factor: 5.958

4.  A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.

Authors:  Detlef Bockenhauer; Michael D Penney; David Hampton; William van't Hoff; Ambrose Gullett; Sankar Sailesh; Daniel G Bichet
Journal:  Am J Kidney Dis       Date:  2011-12-09       Impact factor: 8.860

5.  SIGNAL TRANSDUCTION. Structural basis for nucleotide exchange in heterotrimeric G proteins.

Authors:  Ron O Dror; Thomas J Mildorf; Daniel Hilger; Aashish Manglik; David W Borhani; Daniel H Arlow; Ansgar Philippsen; Nicolas Villanueva; Zhongyu Yang; Michael T Lerch; Wayne L Hubbell; Brian K Kobilka; Roger K Sunahara; David E Shaw
Journal:  Science       Date:  2015-06-19       Impact factor: 47.728

6.  Diagnostic Accuracy of Copeptin in the Differential Diagnosis of the Polyuria-polydipsia Syndrome: A Prospective Multicenter Study.

Authors:  Katharina Timper; Wiebke Fenske; Felix Kühn; Nica Frech; Birsen Arici; Jonas Rutishauser; Peter Kopp; Bruno Allolio; Christoph Stettler; Beat Müller; Mira Katan; Mirjam Christ-Crain
Journal:  J Clin Endocrinol Metab       Date:  2015-03-13       Impact factor: 5.958

7.  Crystal structure of the β2 adrenergic receptor-Gs protein complex.

Authors:  Søren G F Rasmussen; Brian T DeVree; Yaozhong Zou; Andrew C Kruse; Ka Young Chung; Tong Sun Kobilka; Foon Sun Thian; Pil Seok Chae; Els Pardon; Diane Calinski; Jesper M Mathiesen; Syed T A Shah; Joseph A Lyons; Martin Caffrey; Samuel H Gellman; Jan Steyaert; Georgios Skiniotis; William I Weis; Roger K Sunahara; Brian K Kobilka
Journal:  Nature       Date:  2011-07-19       Impact factor: 49.962
  7 in total
  3 in total

Review 1.  Differential diagnosis between syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome in children over 1 year: proposal for a simple algorithm.

Authors:  Flaminia Bardanzellu; Maria Antonietta Marcialis; Roberta Frassetto; Alice Melis; Vassilios Fanos
Journal:  Pediatr Nephrol       Date:  2021-09-01       Impact factor: 3.651

2.  A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.

Authors:  Paolo Cavarzere; Andrea Gastaldi; Francesca Marta Elli; Rossella Gaudino; Erika Peverelli; Milena Brugnara; Susanne Thiele; Francesca Granata; Giovanna Mantovani; Franco Antoniazzi
Journal:  Orphanet J Rare Dis       Date:  2022-02-23       Impact factor: 4.123

Review 3.  Inherited Tubulopathies of the Kidney: Insights from Genetics.

Authors:  Mallory L Downie; Sergio C Lopez Garcia; Robert Kleta; Detlef Bockenhauer
Journal:  Clin J Am Soc Nephrol       Date:  2020-04-01       Impact factor: 8.237
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.