Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification - Wikidata - wikimedia - TriplyDB

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

http://www.wikidata.org/entity/Q24654579

about

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene Epidemiology and Diagnosis of Hypoparathyroidism.Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy Pericytes: multitasking cells in the regeneration of injured, diseased, and aged skeletal muscle.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction A mouse model for osseous heteroplasia Pseudohypoparathyroidism: one gene, several syndromes.Progressive osseous heteroplasia: diagnosis, treatment, and prognosis 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 gene The immunological contribution to heterotopic ossification disorders.Pathogenesis and prevention strategies of heterotopic ossification in total hip arthroplasty: a narrative literature review and results of a survey in Germany.Fibrodysplasia ossificans progressiva: clinical and genetic aspects Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.Paternally inherited gsα mutation impairs adipogenesis and potentiates a lean phenotype in vivo.GNAS-associated disorders of cutaneous ossification: two different clinical presentations.Inherited human diseases of heterotopic bone formation.Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia.Total Ankylosis of the Upper Left Limb: A Case of Progressive Osseous Heteroplasia.Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha).Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.Defining the Balance between Regeneration and Pathological Ossification in Skeletal Muscle Following Traumatic Injury.Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature.Extraskeletal cartilaginous, osseous, and chordoid tumors in children and adolescents.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Insight into skin cell-based osteogenesis: a review.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.Mutation Detection in Activin A Receptor, Type I (ACVR1) Gene in Fibrodysplasia Ossificans Progressiva in An Iranian Family.Progressive osseous heteroplasia in a 10-year-old male child.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.GNAS mutations and heterotopic ossification.Progressive osseous heteroplasia in a Chinese infant and a novel mutation in the GNAS gene.Late-onset subcutaneous scalp calcifications in a patient with pseudo-pseudohypoparathyroidism.Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.Fibrodysplasia ossificans progressiva Progressive extreme heterotopic calcification

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P2860

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

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2008 nî lūn-bûn

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2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2008 թվականի հուլիսին հրատարակված գիտական հոդված

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2008年の論文

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Diagnostic and mutational spec ...... based heterotopic ossification

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Diagnostic and mutational spec ...... based heterotopic ossification

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Diagnostic and mutational spec ...... based heterotopic ossification

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Diagnostic and mutational spec ...... based heterotopic ossification

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Diagnostic and mutational spec ...... based heterotopic ossification

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American Journal of Medical Genetics Part A

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Diagnostic and mutational spec ...... based heterotopic ossification

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P2093

E M Shore

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F S Kaplan

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M Xu

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N S Adegbite

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R J Pignolo

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P2860

A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

GNAS locus and pseudohypoparathyroidism

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

Identification of a methylation imprint mark within the mouse Gnas locus.

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10.1002/AJMG.A.32346

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14

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146A

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227892697

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18553568

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2564798

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