Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. - Wikidata - wikimedia - TriplyDB

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

http://www.wikidata.org/entity/Q37046536

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McCune-Albright syndrome Characterization of large structural genetic mosaicism in human autosome Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling FGF23 and Phosphate Wasting Disorders Fibroblast Growth Factor 23: A New Dimension to Diseases of Calcium-Phosphorus Metabolism McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia Fibrous dysplasia and fibroblast growth factor-23 regulation Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome Detectable clonal mosaicism in the human genome Genetic mosaics and the germ line lineage A high throughput screening assay system for the identification of small molecule inhibitors of gsp The molecular basis of genetic dominance Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines.Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes.Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.Cushing syndrome in the McCune-Albright syndrome.McCune-Albright syndrome: a longitudinal clinical study of 32 patients.A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.Tamoxifen treatment of progressive precocious puberty in a patient with McCune-Albright syndrome.Abnormalities in G protein-coupled signal transduction pathways in human disease.FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia--a meta-analysis Clinical guidelines for the management of craniofacial fibrous dysplasia.Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and familial pituitary adenomas.Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history.A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone.Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation.Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.Bone-Grafting in Polyostotic Fibrous Dysplasia.A case of McCune-Albright syndrome with associated multiple endocrinopathies.Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.Low serum free thyroxine level in a girl with McCune-Albright syndrome.Quantitative analysis of activating alpha subunit of the G protein (Gsα) mutation by pyrosequencing in fibrous dysplasia and other bone lesions Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism.Diagnosing Friedreich's ataxia.Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling Fibrous dysplasia-recent concepts Fibrous dysplasia of bone: the bone lesion unmasked.

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Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

http://www.wikidata.org/entity/Q37046536

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on June 1992

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Identification of a mutation i ...... e in McCune-Albright syndrome.

@en

Identification of a mutation i ...... e in McCune-Albright syndrome.

@nl

type

label

Identification of a mutation i ...... e in McCune-Albright syndrome.

@en

Identification of a mutation i ...... e in McCune-Albright syndrome.

@nl

prefLabel

Identification of a mutation i ...... e in McCune-Albright syndrome.

@en

Identification of a mutation i ...... e in McCune-Albright syndrome.

@nl

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PNAS.89.11.5152

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Proceedings of the National Academy of Sciences of the United States of America

P1476

Identification of a mutation i ...... e in McCune-Albright syndrome.

@en

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C A Francomano

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M A Levine

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W F Schwindinger

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P2860

Detection and localization of single base changes by denaturing gradient gel electrophoresis

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

Two G protein oncogenes in human endocrine tumors

Molecular cloning of five GTP-binding protein cDNA species from rat olfactory neuroepithelium

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

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

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

G proteins and dual control of adenylate cyclase.

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

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5152-5156

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scholarly article

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10.1073/PNAS.89.11.5152

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11

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89

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21560356

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1594625

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49247

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