Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneEpidemiology and Diagnosis of Hypoparathyroidism.A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutationsPseudohypoparathyroidism: one gene, several syndromes.Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneGNAS Spectrum of Disorders.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionCirculating-free DNA Mutation Associated with Response of Targeted Therapy in Human Epidermal Growth Factor Receptor 2-positive Metastatic Breast CancerGNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Heterotrimeric G proteins in the control of parathyroid hormone actions.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.
P2860
Q26852157-BD6C7658-0D56-4653-905F-41EE4F91A105Q33570602-09664FFB-015D-4DE9-9C46-458943F3FB9EQ33792419-8E7BF0C6-0A60-4678-8063-68BD51E1CAC0Q34547669-377FD019-D3F9-41AE-996E-5BD017112A2AQ35126234-8685D0A0-9F84-4817-BF77-8B627B935DCAQ35198908-5996E5C7-C1BA-45B1-986B-33359DC07FC5Q35563016-C04E8918-D417-4CBA-852B-51819CE3E120Q36921018-824C8F77-4297-4B4C-A79A-F01C2BD59ACBQ37261600-747BBC7D-2B83-4A12-9170-CED37B93A657Q37426370-A8CE9A9D-7C10-40FF-AA45-EC71AF790394Q37589286-25133C8B-DAAD-4A62-9B03-773912AFC344Q37684125-99D479E2-987D-452F-8E9B-CAA3D59D5BE6Q38248966-D39D021D-140B-4DCD-AD05-3F238558F63FQ39212169-FA9C7775-FC4B-49C0-BDBF-66CAD99A4881Q47252207-50C94494-46F5-44D3-9289-DA5274B5AF26Q47316014-8835F700-5D19-486A-8E7D-D2984D518FAEQ47599083-B35E3FAB-BC56-45D9-99D7-469F738D72A6Q53495546-ABD655A6-C7DD-415D-B862-0B4550148DCF
P2860
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Functional characterization of ...... vely Gsα-receptor interaction.
@ast
Functional characterization of ...... vely Gsα-receptor interaction.
@en
type
label
Functional characterization of ...... vely Gsα-receptor interaction.
@ast
Functional characterization of ...... vely Gsα-receptor interaction.
@en
prefLabel
Functional characterization of ...... vely Gsα-receptor interaction.
@ast
Functional characterization of ...... vely Gsα-receptor interaction.
@en
P2093
P2860
P356
P1433
P1476
Functional characterization of ...... vely Gsα-receptor interaction.
@en
P2093
Cumhur Aydin
Harald Jüppner
Joachim Grötzinger
Luisa de Sanctis
Murat Bastepe
Ralf Werner
Susanne Thiele
P2860
P304
P356
10.1002/HUMU.21489
P577
2011-04-12T00:00:00Z