Gene Gnas1
Mostrando 1-12 de 17 artigos, teses e dissertações.
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1. G protein gene variants in schizophrenia
Abstract Background Various studies demonstrating enhanced vulnerability to apoptosis may contribute to the pathobiology of schizophrenia. Objective Thus, G proteins may provide an intriguing link between the signal transduction, and apoptotic hypotheses of schizophrenia. In the light of these findings, we investigated whether G protein gene polymorphism
Arch. Clin. Psychiatry (São Paulo). Publicado em: 2020-04
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2. Hiperplasia adrenal macronodular independente de ACTH (AIMAH): aspectos clínicos e moleculares
A AIMAH é caracterizada pela presença de macronódulos em ambas as adrenais, na ausência da estimulação do ACTH. Habitualmente, as manifestações clínicas aparecem somente após várias décadas de vida, provavelmente em função da baixa atividade esteroidogênica do tecido hiperplásico. Entretanto, em indivíduos assintomáticos cuja AIMAH foi desc
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2004-10
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3. Manifestações Endócrinas das Mutações da Proteína Gsalfae do Imprinting do Gene GNAS1
Esta revisão resume o papel da patogênese molecular das mutações do gene da proteína Gsalfa em doenças endócrinas. As proteínas G transmitem o sinal celular de receptores de membrana 7TM. Este sistema pode ser ativado por fotons de luz, odorantes e hormônios (LH, FSH, TSH, PTH, etc). Seu efetor é a adenilato-ciclase que induz a formação de AMPc.
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2002-08
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4. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
The GNAS1 gene encodes the α subunit of the G protein Gs, which couples receptor binding by several hormones to activation of adenylate cyclase. Null mutations of GNAS1 cause pseudohypoparathyroidism (PHP) type Ia, in which hormone resistance occurs in association with a characteristic osteodystrophy. The observation that PHP Ia almost always is inherited m
The National Academy of Sciences.
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5. Parental origin of transcription from the human GNAS1 gene.
Variation in the phenotypic expression of Albright's hereditary osteodystrophy (AHO) determined by the parent of transmission, suggests that the human Gs alpha gene (GNAS1), in which mutations occur in AHO, may be under imprinted control. GNAS1 is also known to map to a chromosomal region (20q13.11) showing syntenic homology with the imprinted mouse region 2
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6. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
The GNAS1 gene encodes the α subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide hormone receptors to cAMP generation. GNAS1 mutations underlie the hormone resistance syndrome pseudohypoparathyroidism type Ia (PHP-Ia), so the maternal inheritance displayed by PHP-Ia has raised suspicions that GNAS1 is imprinted. Des
The National Academy of Sciences.
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7. Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
Approximately 40% of growth hormone–secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp oncogene). These mutations at codon 201 or codon 227 constitutively activate the α subunit of the adenylate cyclase–stimulating G protein Gs. GNAS1 is subject to a complex pattern of genomic imprinting, its various promoters direc
American Society for Clinical Investigation.
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8. Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism
Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the α-subunit of the stimulatory G protein (Gsα) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP). However, because of paternal imprinting, resistance to parathyroid hormone (PTH)—and, sometimes, to
The American Society of Human Genetics.
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9. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene
Albright hereditary osteodystrophy (AHO), an autosomal dominant disorder characterized by short stature, obesity, and skeletal defects, is associated with heterozygous inactivating mutations of GNAS1, the gene encoding the heterotrimeric G protein α-subunit (Gsα) that couples multiple receptors to the stimulation of adenylyl cyclase. It has remained unclea
National Academy of Sciences.
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10. A Comprehensive Transcript Map of the Mouse Gnas Imprinted Complex
The recent publication of the FANTOM mouse transcriptome has provided a unique opportunity to study the diversity of transcripts arising from a single gene locus. We have focused on the Gnas complex, as imprinting loci themselves provide unique insights into transcriptional regulation. Thirteen full-length cDNAs from the FANTOM2 set were mapped to the Gn
Cold Spring Harbor Laboratory Press.
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11. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
The Gnas locus in distal mouse chromosome (Chr) 2 is emerging as a complex genomic region. It contains three imprinted genes in the order Nesp-Gnasxl-Gnas. Gnas encodes a G protein α-subunit, and Nesp and Gnasxl encode proteins of unknown function expressed in neuroendocrine tissue. Together, these genes form a single transcription unit because transcripts
The National Academy of Sciences.
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12. Dinucleotide repeat polymorphism in Gs-α subunit gene (GNAS1) on chromosome 20