Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in Gsα-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.
|
28889026 |
2018 |
Obesity
|
0.490 |
Biomarker
|
disease |
BEFREE |
Consequently, early diagnosis and close follow-up is needed in patients with GNAS defects to screen and intervene in case of early-onset obesity and decreased growth velocity.© 2018 The Authors.
|
29693731 |
2018 |
Obesity
|
0.490 |
Biomarker
|
disease |
BEFREE |
Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity.
|
28453643 |
2017 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS, which were sometimes found with accelerated growth rather than short stature as described previously.
|
28663568 |
2017 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
PHP type 1A includes multihormone resistance syndrome, Albright's hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13.
|
25802348 |
2015 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the coding sequence of GNAS produce dominant phenotypes (combination of resistances to hormones signaling through G-protein-coupled receptors, osteodystrophy and obesity) that depend on the parental origin of the mutated allele.
|
23548772 |
2013 |
Obesity
|
0.490 |
Biomarker
|
disease |
CTD_human |
To understand genetic determinants of androgen excess, insulin resistance, and obesity in polycystic ovary syndrome (PCOS), we investigated the effect of the common GNAS1 T393C polymorphism on the phenotype of German PCOS women.
|
17062894 |
2006 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
To understand genetic determinants of androgen excess, insulin resistance, and obesity in polycystic ovary syndrome (PCOS), we investigated the effect of the common GNAS1 T393C polymorphism on the phenotype of German PCOS women.
|
17062894 |
2006 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Both the gene encoding the alpha subunit of G stimulatory proteins (GNAS1) and the beta3 subunit gene (GNB3) of G proteins are associated with obesity and/or hypertension.
|
15531240 |
2004 |
Obesity
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications.
|
12970262 |
2003 |
Obesity
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Obesity
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|