Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Autor:in

Bastepe, Murat; Fröhlich, Leopold F; Linglart, Agnès; Abu-Zahra, Hilal S; Tojo, Katsuyoshi; Ward, Leanne M; Jüppner, Harald;

Schlagwörter

Base Sequence; DNA Methylation*; GTP-Binding Protein alpha Subunits, Gs/genetics*; GTP-Binding Protein alpha Subunits, Gs/metabolism; Gene Silencing*; Humans; Membrane Proteins/genetics; Membrane Proteins/metabolism; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Pseudohypoparathyroidism/enzymology; Pseudohypoparathyroidism/genetics*; Pseudohypoparathyroidism/metabolism; Sequence Analysis, DNA; Sequence Deletion;

ISSN/eISSN

1061-4036 -

WoS ID

WOS:000225997500016