Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis - Wikidata - wikimedia - TriplyDB

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

http://www.wikidata.org/entity/Q34032076

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The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene Gene Dosage Effects at the Imprinted Gnas Cluster Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo Epidemiology and Diagnosis of Hypoparathyroidism.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.Pseudohypoparathyroidism: one gene, several syndromes.Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.Madelung-like deformity in pseudohypoparathyroidism type 1b Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)GNAS Spectrum of Disorders.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.The extended granin family: structure, function, and biomedical implications Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion Clinical utility gene card for: pseudohypoparathyroidism.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Brachydactyly E: isolated or as a feature of a syndrome Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.Exploiting Long Noncoding RNAs as Pharmacological Targets to Modulate Epigenetic Diseases.Conceptual approaches for lncRNA drug discovery and future strategies.Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Multilocus methylation defects in imprinting disorders.Genome-wide identification of palmitate-regulated immediate early genes and target genes in pancreatic beta-cells reveals a central role of NF-κB.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Heterotrimeric G proteins in the control of parathyroid hormone actions.No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.Expression Profiling of Long Noncoding RNA Splice Variants in Human Microvascular Endothelial Cells: Lipopolysaccharide Effects In Vitro.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

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Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

http://www.wikidata.org/entity/Q34032076

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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prefLabel

Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

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The Journal of Clinical Endocrinology and Metabolism

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Deletion of the noncoding GNAS ...... cts of GNAS methylation in cis

@en

P2093

Daw-Yang Hwang

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Harald Jüppner

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Hung-Chun Chen

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Murat Bastepe

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Smitha Chillambhi

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P2860

XL alpha s is a new type of G protein

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus

Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage

XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance

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

Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit

MethPrimer: designing primers for methylation PCRs

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3993-4002

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scholarly article

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10.1210/JC.2009-2205

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8

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95

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2010-05-05T00:00:00Z

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44575515

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20444925

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2913043

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