TY  - JOUR
AU  - Inta, Ioana Monica
AU  - Choukair, Daniela
AU  - Bender, Sebastian
AU  - Kneppo, Carolin
AU  - Knauer-Fischer, Sabine
AU  - Meyenburg, Kahina
AU  - Ivandic, Boris
AU  - Pfister, Stefan
AU  - Bettendorf, Markus
TI  - Guanine nucleotide-binding protein α subunit hypofunction in children with short stature and disproportionate shortening of the 4th and 5th metacarpals.
JO  - Hormone research in paediatrics
VL  - 81
IS  - 3
SN  - 1663-2826
CY  - Basel
PB  - Karger
M1  - DKFZ-2017-02105
SP  - 196 - 203
PY  - 2014
AB  - GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals.Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals.In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gsα protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions.In 51 patients (8.9
LB  - PUB:(DE-HGF)16
C6  - pmid:24481334
DO  - DOI:10.1159/000356928
UR  - https://inrepo02.dkfz.de/record/125990
ER  -