Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
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A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activationAlbright's hereditary osteodystrophyDiagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationCognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of GsalphaImprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegalyBidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteinsImprinting in Albright's hereditary osteodystrophyParental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.Parental origin of transcription from the human GNAS1 gene.Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BVariable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron.Abnormalities in G protein-coupled signal transduction pathways in human disease.A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.Imprints of disease at GNAS1.The human obesity gene map: the 2000 update.Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.A GNAS1 imprinting defect in pseudohypoparathyroidism type IBA mouse model for osseous heteroplasiaPseudohypoparathyroidism: one gene, several syndromes.The human obesity gene map: the 2001 update.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisSingle-strand-specific nucleases.The human obesity gene map: the 2002 update.Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.Advances in endocrinologyAberrant splicing of Gs alpha transcript in transformed human astroglial and glioblastoma cell linesThe influence of non-coding RNAs on allele-specific gene expression in mammals.Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha geneThe human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteinsThe gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism.Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsA Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.Physiological dysfunctions associated with mutations of the imprinted Gnas locus.Epigenetics and obesity.Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption
P2860
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P2860
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@ast
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@en
type
label
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@ast
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@en
prefLabel
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@ast
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@en
P2093
P2860
P356
P1476
Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis
@en
P2093
Collins RM
Friedman E
Gershon ES
Kadowaki T
Spiegel AM
Weinstein LS
P2860
P304
P356
10.1073/PNAS.87.21.8287
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P577
1990-11-01T00:00:00Z