LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The present report provides clinical data regarding the first association of a RAF1 variant and craniosynostosis in a patient with clinical diagnosis of NSML.
|
31145547 |
2019 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K.
|
29084544 |
2017 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.
|
25706034 |
2015 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in RAF1 can cause NS and the highly related NS with multiple lentigines (previously known as LEOPARD syndrome).
|
22786616 |
2012 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients.
|
22389993 |
2012 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan syndrome (NS), two disorders that are part of a newly classified family of autosomal dominant syndromes termed "RASopathies," which are caused by germline mutations in components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway.
|
22681964 |
2011 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
We modeled hypertrophic cardiomyopathy by infecting neonatal and adult rat cardiomyocytes (NRCMs and ARCMs, respectively) with adenoviruses encoding wild-type RAF1 and three Noonan/LEOPARD syndrome-associated RAF1 mutants (S257L, D486N or L613V).
|
21440552 |
2011 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
|
20052757 |
2010 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
|
20052757 |
2010 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.
|
19933846 |
2010 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes.
|
19568997 |
2008 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |
LEOPARD Syndrome
|
0.770 |
Biomarker
|
disease |
CLINGEN |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
LHGDN |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |
LEOPARD Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
LEOPARD Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.
|
17603483 |
2007 |