Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth - sprookjes - yvandenbroek - TriplyDB

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

http://www.wikidata.org/entity/Q35442006

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Pseudohypoparathyroidism: one gene, several syndromes.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

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P2860

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

http://www.wikidata.org/entity/Q35442006

description

2015 nî lūn-bûn

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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հունվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@ast

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@en

type

label

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@ast

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@en

prefLabel

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@ast

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@en

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The Journal of Clinical Endocrinology and Metabolism

P1476

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

@en

P2093

Anne-Claire Bréhin

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Cindy Colson

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Harald Jüppner

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Marie-Laure Kottler

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Stéphanie Maupetit-Méhouas

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Virginie Grybek

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P2860

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

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

Gene Dosage Effects at the Imprinted Gnas Cluster

Genomic imprinting in mammalian development: a parental tug-of-war

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

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

Maternal inheritance of the Gnas cluster mutation Ex1A-T affects size, implicating NESP55 in growth

Maternal UPD 20 in a hyperactive child with severe growth retardation.

Alternative Gnas gene products have opposite effects on glucose and lipid metabolism.

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

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E623-31

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10.1210/JC.2014-4047

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4

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100

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Agnès Linglart

Nicolas Richard

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2015-01-20T00:00:00Z

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25603460

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4399294

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