|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) results from a GNAS gene mutation.
|
30628989 |
2019 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene.
|
31362300 |
2019 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 patients (58.3%) suspected to have fibrous dysplasia/MAS from whole blood DNA, and in 4 of 5 patients (80%) from circulating cell-free DNA.
|
30442414 |
2019 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis.
|
29984378 |
2018 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature.
|
29471062 |
2018 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, guanine nucleotide binding protein, alpha stimulating (GNAS) gene mutations are associated with McCune-Albright syndrome, which is associated with cystic ovaries.
|
28216128 |
2017 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene.
|
29104223 |
2017 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations.
|
28188442 |
2017 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling.
|
26188235 |
2016 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the G<sub>s</sub> α subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades.
|
27411099 |
2016 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) and familial male-limited precocious puberty (FMPP) represent rare causes of PPP that arise from activating mutations in GNAS1 and the LH receptor gene, respectively.
|
26680582 |
2016 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Over 25 years ago, GNAS mutations were discovered associated with McCune-Albright syndrome (MAS) and pituitary tumors.
|
28741526 |
2016 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We excluded germline mutations in PHEX, FGF23, DMP1, and ENPP1 (genes for hereditary hypophosphatemic rickets) and somatic mutations in the GNAS and HRAS/KRAS (the disease-causing genes for McCune-Albright syndrome and linear nevus sebaceous syndrome, respectively).
|
26059403 |
2015 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GNAS that cause constitutive Gsα signaling are found in patients with McCune-Albright syndrome, fibrous dysplasia of bone, and different endocrine and non-endocrine tumors.
|
25851935 |
2015 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) also has a genetic origin due to mosaic mutations in the G protein-coupled α subunit coded by the GNAS1 gene.
|
25248598 |
2014 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) is caused by mutations in GNAS, the gene encoding Gs.
|
24850831 |
2014 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in GNAS, encoding the α-subunit of the heterotrimeric G protein complex (Gsα), occur in FD and McCune-Albright syndrome but have not been reported in parosteal osteosarcoma.
|
24525511 |
2014 |
|
McCune-Albright Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This comprehensive pathological study of a single patient highlights the complex clinical profile of MAS and illustrates important advances in understanding the characteristics of somatic GNAS1-related pathology across a wide range of affected organs.
|
25062453 |
2014 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Besides providing additional evidence of a syndromic IPMN as a feature of McCune-Albright syndrome, this observation is further evidence of the functional oncogenic consequences of GNAS mutations in the pancreas.
|
24898823 |
2014 |
|
McCune-Albright Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
|
23536913 |
2013 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
|
23536913 |
2013 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait skin pigmentations, and gonadotropin-independent sexual precocious puberty, resulting from a somatic postzygotic activating mutation of the GNAS1 gene.
|
23365131 |
2013 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus inhibition of 8-catenin signaling or silencing GNAS alleles that encode constitutively active Gsa molecules in fibrous dysplasia and McCune-Albright syndrome offer potential therapeutic promise and deserve further study.
|
23858622 |
2013 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
McCune Albright syndrome (MAS), caused by somatic activating mutations in GNAS, presents with cutaneous, skeletal, and endocrine manifestations.
|
23337932 |
2013 |
|
McCune-Albright Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Occurrence of GNAS mutations at a postzygotic stage lead to McCune-Albright syndrome (MAS), a disease causing endocrine hyperfunction and tumors in several organs, including the pituitary.
|
23652674 |
2013 |