|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.
|
23613113 |
2013 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2).
|
23786871 |
2013 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated mice with endothelial-specific, inducible expression of an RAF1 gene with a gain-of-function mutation (RAF1(S259A)) that is associated with Noonan syndrome.
|
23391722 |
2013 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
|
23885229 |
2013 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.
|
23613113 |
2013 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Our results suggest that an increased heterodimerization ability is the common pathogenic mechanism for NS-associated RAF1 mutations.
|
22826437 |
2012 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that duplications of genomic regions encompassing RAF1 could cause NS and are consistent with the notion that rare copy number variations encompassing causative genes may underlie a small percentage of patients with syndromic CHD like NS.
|
22786616 |
2012 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with mutations identified in PTPN11 (n = 90), SOS1 (n = 14), RAF1 (n = 10), KRAS (n = 8), BRAF (n = 11), and SHOC2 (n = 4) genes.
|
22887833 |
2012 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate how kinase-impaired RAF1 mutants cause NS, we generated knock-in mice expressing Raf1(D486N).
|
22826437 |
2012 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Our results suggest that an increased heterodimerization ability is the common pathogenic mechanism for NS-associated RAF1 mutations.
|
22826437 |
2012 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.
|
22821648 |
2012 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
|
22389993 |
2012 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
To explore the pathogenesis of such mutations, we generated knockin mice expressing the NS-associated Raf1(L613V) mutation.
|
21339642 |
2011 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or downstream signal transducers (RAF1) are causative for NS.
|
20673819 |
2011 |
|
Noonan Syndrome
|
1.000 |
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 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.
|
21440552 |
2011 |
|
Noonan Syndrome
|
1.000 |
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 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
To explore the pathogenesis of such mutations, we generated knockin mice expressing the NS-associated Raf1(L613V) mutation.
|
21339642 |
2011 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.
|
19933846 |
2010 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
|
Noonan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome.
|
20052757 |
2010 |
|
Noonan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes.
|
20052757 |
2010 |
|
Noonan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes.
|
20052757 |
2010 |