Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
about
Function, regulation and pathological roles of the Gab/DOS docking proteinsActivating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisConnecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac functionThe neural crest in cardiac congenital anomaliesStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsStructural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeIFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumNoonan syndrome: clinical aspects and molecular pathogenesis.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsSHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.Noonan syndrome and clinically related disorders.Atrioventricular canal defect in patients with RASopathies.Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.Carnitine palmitoyl transferase-1A (CPT1A): a new tumor specific target in human breast cancer.Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.The tyrosine phosphatase SHP2 is required for cell transformation by the receptor tyrosine kinase mutants FIP1L1-PDGFRα and PDGFRα D842V.Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.Juvenile myelomonocytic leukaemia and Noonan syndrome.Regulatory Mechanisms and Novel Therapeutic Targeting Strategies for Protein Tyrosine Phosphatases.Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
P2860
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P2860
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@ast
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@en
type
label
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@ast
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@en
prefLabel
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@ast
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@en
P2093
P2860
P50
P356
P1476
Diverse driving forces underli ...... g Noonan and LEOPARD syndromes
@en
P2093
Antonio Palleschi
Elisabetta Flex
Gianni Cesareni
Marina Ceccarini
Michele Tinti
Simone Martinelli
Tamara C Petrucci
P2860
P304
P356
10.1093/HMG/DDN099
P50
P577
2008-03-27T00:00:00Z