|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
|
21438134 |
2011 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
|
28337834 |
2017 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
Costello syndrome (disorder)
|
|
0.830 |
GeneticVariation
|
BEFREE |
We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life.
|
19213030 |
2009 |
|
Nevus Sebaceus of Jadassohn
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
|
22683711 |
2012 |
|
Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
Using next-generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer-related genes.
|
24628623 |
2014 |
|
Organoid Nevus Phakomatosis
|
|
0.710 |
GeneticVariation
|
BEFREE |
Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome.
|
22683711 |
2012 |
|
Thyroid Neoplasm
|
|
0.710 |
GeneticVariation
|
BEFREE |
Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.
|
26265449 |
2015 |
|
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
|
Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
|
Developmental delay (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
|
Malignant neoplasm of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.
|
26265449 |
2015 |
|
Dwarfism
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001).
|
21438134 |
2011 |
|
Melanocytic nevus
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy.
|
26400620 |
2017 |
|
Global developmental delay
|
|
0.010 |
GeneticVariation
|
BEFREE |
The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay.
|
21438134 |
2011 |
|
Neoplasm Metastasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The HRAS c.37G>C mutation was also found in 8 of 8 associated secondary tumors.
|
22683711 |
2012 |
|
Adult Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
|
Thyroid carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation.
|
26265449 |
2015 |