The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene

Item
http://www.wikidata.org/entity/Q26852157
Pseudohypoparathyroidism: one gene, several syndromes.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisSelection of genes associated with variations in the Circle of Willis in gerbils using suppression subtractive hybridization.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)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.Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.New Perspectives on Genomic Imprinting, an Essential and Multifaceted Mode of Epigenetic Control in the Developing and Adult Brain.Gsα Controls Cortical Bone Quality by Regulating Osteoclast Differentiation via cAMP/PKA and β-Catenin Pathways.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.Role of DNA methylation in imprinting disorders: an updated review.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.DNA methylation alterations in iPSC- and hESC-derived neurons: potential implications for neurological disease modeling.Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.
P2860

The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene

Item
http://www.wikidata.org/entity/Q26852157
description
2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
@ja
2013年論文
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2013年論文
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2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
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2013年论文
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name
The GNAS complex locus and hum ...... ons within this imprinted gene
@ast
The GNAS complex locus and hum ...... ons within this imprinted gene
@en
The GNAS complex locus and hum ...... ons within this imprinted gene
@nl
type
label
The GNAS complex locus and hum ...... ons within this imprinted gene
@ast
The GNAS complex locus and hum ...... ons within this imprinted gene
@en
The GNAS complex locus and hum ...... ons within this imprinted gene
@nl
prefLabel
The GNAS complex locus and hum ...... ons within this imprinted gene
@ast
The GNAS complex locus and hum ...... ons within this imprinted gene
@en
The GNAS complex locus and hum ...... ons within this imprinted gene
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
The GNAS complex locus and hum ...... ons within this imprinted gene
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932