Condition: Costello syndrome (disorder)


rs104894227 in HRAS;LRRC56 gene and Costello syndrome (disorder) PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 18247425 2008 Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

PMID 25173338 2014 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).

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

PMID 19995790 2010 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.

PMID 17979197 2008 We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 18642361 2009 Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

PMID 28027064 2017 In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.

PMID 21344638 2011 Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

PMID 27195699 2016 We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS.

PMID 24224811 2013 Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

PMID 27589201 2016 Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 2105486 1990 Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.

PMID 17979197 2008 We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.

PMID 20658932 2011 Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.

PMID 24169525 2014 HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 25668678 2015 Molecular studies in this patient demonstrated the uncommon Q22K mutation in the HRAS gene, diagnostic of Costello syndrome.

PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

rs104894226 in LRRC56;HRAS gene and Costello syndrome (disorder) PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 24224811 2013 Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 25173338 2014 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).

PMID 19995790 2010 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.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 18247425 2008 Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 17211612 2007 An unexpected new role of mutant Ras: perturbation of human embryonic development.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 21850009 2011 HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

PMID 21438134 2011 To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S.

PMID 18039947 2008 Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.

PMID 18978862 2008 Partially correlated thin annular sources: the scalar case.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16969868 2006 De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).

PMID 18247425 2008 More than 80% of patients with Costello syndrome share the same underlying mutation, resulting in a G12S amino acid change.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 19382114 2009 Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

PMID 16835863 2006 Paternal bias in parental origin of HRAS mutations in Costello syndrome.

PMID 20979192 2010 Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.

PMID 20660566 2010 Enhanced human brain associative plasticity in Costello syndrome.

PMID 23751039 2013 Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

PMID 21834037 2011 Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

PMID 19371735 2009 Costello syndrome H-Ras alleles regulate cortical development.

PMID 19669404 2009 Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.

PMID 22317973 2012 C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

PMID 22926243 2012 Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 17412879 2007 Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.

PMID 22488832 2012 Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 20112233 2010 Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

PMID 16921267 2006 Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

PMID 23321623 2013 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

PMID 10716188 2000 Role of the switch II region in the conformational transition of activation of Ha-ras-p21.

PMID 3283542 1988 The ras gene family and human carcinogenesis.

PMID 6287572 1982 Nucleotide sequence of the p21 transforming protein of Harvey murine sarcoma virus.

PMID 6287573 1982 Nucleotide sequence of the oncogene encoding the p21 transforming protein of Kirsten murine sarcoma virus.

PMID 21779495 2011 Functional specificity of ras isoforms: so similar but so different.

PMID 3004741 1986 Ras p21 proteins with high or low GTPase activity can efficiently transform NIH/3T3 cells.

PMID 3304147 1987 ras genes.

PMID 2674130 1989 rac, a novel ras-related family of proteins that are botulinum toxin substrates.

PMID 6288698 1982 Characterization of the phosphorylation sites and the surrounding amino acid sequences of the p21 transforming proteins coded for by the Harvey and Kirsten strains of murine sarcoma viruses.

PMID 21850009 2011 In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.