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GNAS gene

Known as: ALTERNATIVE GENE PRODUCT ENCODED BY THE XL EXON, A/B TRANSCRIPT, Gs, ALPHA SUBUNIT 
This gene plays a role in signal transduction and is associated with pituitary tumors.
National Institutes of Health

Related topics

Related topics

21 relations
Cellular MyxomaDensely Granulated Pituitary Gland Somatotroph AdenomaEnvironment-to-Cell CommunicationFibrous Dysplasia

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GNAS wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification
Heterotopic ossification, the pathologic formation of extraskeletal bone, occurs as a common complication of trauma or in genetic… 
Highly Cited
2007
Highly Cited
2007
Active Leg Exoskeleton (ALEX) for Gait Rehabilitation of Motor-Impaired Patients
This paper describes the design and human machine interface of an Active Leg EXoskeleton (ALEX) for gait rehabilitation of… 
Highly Cited
2005
Highly Cited
2005
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
A unique heterozygous 3-kb microdeletion within STX16, a closely linked gene centromeric of GNAS, was previously identified in… 
Highly Cited
2005
Highly Cited
2005
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this… 
Review
2005
Review
2005
GNAS Locus and Pseudohypoparathyroidism
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone… 
Highly Cited
2003
Highly Cited
2003
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone… 
Highly Cited
2002
Highly Cited
2002
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.
BACKGROUND Progressive osseous heteroplasia (POH), an autosomal dominant disorder, is characterized by extensive dermal… 
Highly Cited
2000
Highly Cited
2000
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone (PTH) and the absence of… 
Highly Cited
1998
Highly Cited
1998
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
The GNAS1 gene encodes the alpha subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide… 
Highly Cited
1998
Highly Cited
1998
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
The GNAS1 gene encodes the alpha subunit of the G protein Gs, which couples receptor binding by several hormones to activation of… 
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