Noonan Syndrome
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with a severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant, which represents a recurrent substitution in RAS homologs in various cancers.
|
31173466 |
2019 |
Noonan Syndrome
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
p.Gly23Val-MRAS is both necessary and sufficient to elicit a cardiac hypertrophy phenotype in iPSC-CMs that includes increased cell size, changes in cardiac gene expression, and abnormal calcium handling-providing further evidence to establish the monogenetic pathogenicity of p.Gly23Val-MRAS in NS with cardiac hypertrophy.
|
31638832 |
2019 |
Noonan Syndrome
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
A ternary complex comprised of SHOC2, MRAS, and PP1 (SHOC2 complex) functions as a RAF S259 holophosphatase and gain-of-function mutations in SHOC2, MRAS, and PP1 that promote complex formation are found in Noonan syndrome.
|
31213532 |
2019 |
Noonan Syndrome
|
0.560 |
Biomarker
|
disease |
BEFREE |
MRAS has only recently been related to NS based on the observation of two unrelated affected individuals with de novo variants involving the same codons here found mutated.
|
31108500 |
2019 |
Noonan Syndrome
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in MRAS (as well as SHOC2 and PP1) do occur in the RASopathy Noonan syndrome, underscoring a key role for MRAS within the RAS-ERK pathway.
|
29311130 |
2018 |
Noonan Syndrome
|
0.560 |
AlteredExpression
|
disease |
BEFREE |
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
|
30348783 |
2018 |
Noonan Syndrome
|
0.560 |
Biomarker
|
disease |
CLINGEN |
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
|
28289718 |
2017 |
Noonan Syndrome
|
0.560 |
GermlineCausalMutation
|
disease |
ORPHANET |
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
|
28289718 |
2017 |
Noonan Syndrome
|
0.560 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls.
|
28705542 |
2019 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
GWASCAT |
Association analyses based on false discovery rate implicate new loci for coronary artery disease.
|
28714975 |
2017 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
In the current study, locus C12orf43/rs2258287 was found to be associated with the risk of CAD in the studied Pakistani cohort (OR 0.18; CI 0.08-0.37; p = 0.0001) while no association was observed for MRAS/rs9818870 (OR 1.34; CI 0.65-2.76; p = 0.42).
|
27263109 |
2016 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
From the above results, the MRAS gene loci might have a minor effect in conferring susceptibility to CAD in Chinese population.
|
25800439 |
2015 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
GWASDB |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
|
24262325 |
2014 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
GWASDB |
Large-scale association analysis identifies new risk loci for coronary artery disease.
|
23202125 |
2013 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
In a preliminary study in heterozygous familial hypercholesterolaemia, we identified a locus linking the early onset of coronary artery disease (CAD) to chromosome 3q.22 and elected to sequence the MRAS gene using the MegaBACE DNA analysis system.
|
23738802 |
2013 |
Coronary Artery Disease
|
0.450 |
Biomarker
|
disease |
CTD_human |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
Coronary Artery Disease
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
|
19198612 |
2009 |
Coronary heart disease
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
|
28869590 |
2017 |
Coronary heart disease
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
|
24262325 |
2014 |
Coronary heart disease
|
0.400 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
|
21347282 |
2011 |
Coronary heart disease
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
Coronary heart disease
|
0.400 |
GeneticVariation
|
disease |
GWASDB |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
Coronary heart disease
|
0.400 |
GeneticVariation
|
disease |
GWASDB |
New susceptibility locus for coronary artery disease on chromosome 3q22.3.
|
19198612 |
2009 |