Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family with Autosomal Dominant Hypocalcemia Type 2 (ADH2)

  1. Inicio
  2. »
  3. Sin categoría
  4. »
  5. Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a...

J Bone Miner Res June; 31(6):1167-1176 . doi: 10.1002/jbmr.2797. Epub 2016 Jan 28.

In conclusion, our identification of a novel germline gain-of-function Gα11 mutation, Val340Met, causing ADH2 demonstrates the importance of the Gα11 C-terminal region for G-protein function and CaSR signal transduction.

Autor: Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.
Patrocinadores de la web
Lilly
Laboratorios Rubió
Grupo Italfármaco
UCB-Pharma
Theramex
Stada
Gedeon Richter
Kyowa Kirin
Amgen
Meiji Pharma
Faes Farma