Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneThe N termini of a-subunit isoforms are involved in signaling between vacuolar H+-ATPase (V-ATPase) and cytohesin-2.Postnatal changes in the expression pattern of the imprinted signalling protein XLαs underlie the changing phenotype of deficient mice.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionExtra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signalingLoss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionHeterotrimeric G proteins in the control of parathyroid hormone actions.Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo.GNAS mutations and heterotopic ossification.
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P2860
Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivo
description
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
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im April 2011 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2011/04/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/04/01)
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наукова стаття, опублікована у квітні 2011
@uk
مقالة علمية (نشرت في أبريل 2011)
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name
Transgenic overexpression of t ...... renal proximal tubule in vivo
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Transgenic overexpression of t ...... renal proximal tubule in vivo
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Transgenic overexpression of t ...... renal proximal tubule in vivo
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type
label
Transgenic overexpression of t ...... renal proximal tubule in vivo
@ast
Transgenic overexpression of t ...... renal proximal tubule in vivo
@en
Transgenic overexpression of t ...... renal proximal tubule in vivo
@nl
prefLabel
Transgenic overexpression of t ...... renal proximal tubule in vivo
@ast
Transgenic overexpression of t ...... renal proximal tubule in vivo
@en
Transgenic overexpression of t ...... renal proximal tubule in vivo
@nl
P2093
P2860
P356
P1433
P1476
Transgenic overexpression of t ...... renal proximal tubule in vivo
@en
P2093
Cumhur Aydin
Hiroko Segawa
Leopold F Fröhlich
Monica Reyes
Murat Bastepe
Reinhold G Erben
Vladimir Marshansky
P2860
P304
P356
10.1210/EN.2010-1034
P407
P577
2011-02-08T00:00:00Z