Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus
Iris Böselt(Leipzig University), Anja Schulz(Leipzig University), Thomas Niemeyer, Despoina Tramma(Aristotle University of Thessaloniki), Torsten Schöneberg(University of Global Health Equity), Stefania Di Candia(San Raffaele University of Rome), Heiko Krude(Humboldt-Universität zu Berlin), K.-J. Graf(Endokrinologikum), Karen Marenzi(University of Milan), Serafeia Kalamitsou(Aristotle University of Thessaloniki), Pekka Nykänen
Cited by 14
Related Papers
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
|Nature Genetics|1998|1.7k
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
|The Lancet|2004|707
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism
|The Journal of Clinical Endocrinology & Metabolism|2014|569
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
|Nature Genetics|1998|503
Extracellular Ca2+ is a danger signal activating the NLRP3 inflammasome through G protein-coupled calcium sensing receptors
|Nature Communications|2012|483