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

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

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

http://www.wikidata.org/entity/Q33862158

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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 activation Albright's hereditary osteodystrophy Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins Imprinting in Albright's hereditary osteodystrophy Parental 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 1B Variable 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 IB A mouse model for osseous heteroplasia Pseudohypoparathyroidism: one gene, several syndromes.The human obesity gene map: the 2001 update.Progressive osseous heteroplasia: diagnosis, treatment, and prognosis Single-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 endocrinology Aberrant splicing of Gs alpha transcript in transformed human astroglial and glioblastoma cell lines The 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 gene The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins The 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 Transcripts A 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

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

http://www.wikidata.org/entity/Q33862158

description

1990 nî lūn-bûn

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1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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1990 թվականի նոյեմբերին հրատարակված գիտական հոդված

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1990年の論文

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1990年論文

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1990年論文

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1990年論文

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1990年論文

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1990年論文

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1990年论文

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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

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Mutations of the Gs alpha-subu ...... g gradient gel electrophoresis

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Collins RM

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Friedman E

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Gejman PV

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Gershon ES

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Weinstein LS

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P2860

Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

Pseudo-pseudohypoparathyroidism

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

Isolation and characterization of the human Gs alpha gene

G proteins: transducers of receptor-generated signals

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

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electrophoresis

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54940

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