Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype
about
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.RSK3 is required for concentric myocyte hypertrophy in an activated Raf1 model for Noonan syndrome.Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).LITTLE FISH, BIG DATA: ZEBRAFISH AS A MODEL FOR CARDIOVASCULAR AND METABOLIC DISEASE.Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature".RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.ClinGen's RASopathy Expert Panel consensus methods for variant interpretation
P2860
Q30315232-125FFA6D-587C-4465-86DE-AD2634689455Q36839960-D7665181-4CAC-45B9-9BF9-CBA110C1F284Q38768357-B7A196E9-E067-42F9-908C-483B71EAA03BQ38806486-DC2CDA2F-C133-44BE-85EB-0D536C64F4A1Q47686973-045A11FC-498C-48AE-A3B7-9C3376B35B88Q54401178-9FFC4BF8-8E77-4CF2-A44C-3A40082B1483Q54698192-FA48687D-CE27-4682-A0B3-071C95AE08D4Q54973644-C1546E63-7A74-4DF3-8F60-CCD7BC979F64Q56476282-4D216C8F-F4F4-48A1-9F78-7A6000D294E5
P2860
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@ast
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@en
type
label
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@ast
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@en
prefLabel
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@ast
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@en
P2093
P2860
P356
P1433
P1476
Mutations in RIT1 cause Noonan ...... panding the clinical phenotype
@en
P2093
D A Andres
J L McCauley
K Sol-Church
M Koenighofer
P2860
P304
P356
10.1111/CGE.12608
P577
2015-05-09T00:00:00Z