Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneEpidemiology and Diagnosis of Hypoparathyroidism.Heterotopic ossifications in a mouse model of albright hereditary osteodystrophyA mouse model for osseous heteroplasiaEvidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisA 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.Paternally inherited gsα mutation impairs adipogenesis and potentiates a lean phenotype in vivo.Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossificationAn update on the clinical and molecular characteristics of pseudohypoparathyroidism.Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionGsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.Infantile osteoma cutis as a presentation of a GNAS mutation.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.GNAS mutations and heterotopic ossification.Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
P2860
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P2860
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Progressive osseous heteroplas ...... activating mutations in humans
@ast
Progressive osseous heteroplas ...... activating mutations in humans
@en
Progressive osseous heteroplas ...... activating mutations in humans
@nl
type
label
Progressive osseous heteroplas ...... activating mutations in humans
@ast
Progressive osseous heteroplas ...... activating mutations in humans
@en
Progressive osseous heteroplas ...... activating mutations in humans
@nl
prefLabel
Progressive osseous heteroplas ...... activating mutations in humans
@ast
Progressive osseous heteroplas ...... activating mutations in humans
@en
Progressive osseous heteroplas ...... activating mutations in humans
@nl
P2093
P356
P1476
Progressive osseous heteroplas ...... activating mutations in humans
@en
P2093
A Coëslier Dieux
G Abeguilé
J P Salles
M L Kottler
S Gandon-Laloum
P304
P356
10.1210/JC.2009-1451
P407
P577
2010-04-28T00:00:00Z