Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneImprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociEpidemiology and Diagnosis of Hypoparathyroidism.The role of genomic imprinting in biology and disease: an expanding view.Pseudohypoparathyroidism: one gene, several syndromes.Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisLoss of methylation at GNAS exon A/B is associated with increased intrauterine growthGNAS Spectrum of Disorders.The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.Reductions in hypothalamic Gfap expression, glial cells and α-tanycytes in lean and hypermetabolic Gnasxl-deficient miceGNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.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.Heterotrimeric G proteins in the control of parathyroid hormone actions.Endocrinological and phenotype evaluation in a patient with acrodysostosis.Sperm DNA methylation analysis in swine reveals conserved and species-specific methylation patterns and highlights an altered methylation at the GNAS locus in infertile boars.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo.GNAS mutations and heterotopic ossification.A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).Spina bifida in fetus is associated with an altered pattern of DNA methylation in placenta.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.
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P2860
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
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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 24 July 2013
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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
Paternal GNAS mutations lead t ...... of XLαs in fetal development.
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Paternal GNAS mutations lead to severe intrauterine growth retardation
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type
label
Paternal GNAS mutations lead t ...... of XLαs in fetal development.
@en
Paternal GNAS mutations lead to severe intrauterine growth retardation
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prefLabel
Paternal GNAS mutations lead t ...... of XLαs in fetal development.
@en
Paternal GNAS mutations lead to severe intrauterine growth retardation
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P2093
P2860
P356
P1476
Paternal GNAS mutations lead t ...... e of XLαs in fetal development
@en
P2093
Arnaud Molin
Harald Jüppner
Marie-Laure Kottler
Nadia Coudray
Pauline Rault-Guillaume
P2860
P304
P356
10.1210/JC.2013-1667
P407
P577
2013-07-24T00:00:00Z