Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. - Wikidata - wikimedia - TriplyDB

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

http://www.wikidata.org/entity/Q24540529

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Leopard syndrome Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1 Ptpn11/Shp2 acts as a tumor suppressor in hepatocellular carcinogenesis The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation Syndromic disorders with short stature Noonan syndrome The RASopathies The neural crest in cardiac congenital anomalies Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects Structural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 Mutations Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11)Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Noonan syndrome: clinical aspects and molecular pathogenesis.Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes A cardiac-enriched microRNA, miR-378, blocks cardiac hypertrophy by targeting Ras signaling.PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.Identification of cryptotanshinone as an inhibitor of oncogenic protein tyrosine phosphatase SHP2 (PTPN11).Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations Clinical and Molecular Findings of Tunisian Patients with RASopathies.SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms Role of genomics in cardiovascular medicine.Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1.Noonan syndrome and clinically related disorders.SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.Non-lineage/stage-restricted effects of a gain-of-function mutation in tyrosine phosphatase Ptpn11 (Shp2) on malignant transformation of hematopoietic cells.Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

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Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

http://www.wikidata.org/entity/Q24540529

description

2005 nî lūn-bûn

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2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年论文

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Diversity and functional conse ...... N11 mutations in human disease

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Diversity and functional conse ...... 11 mutations in human disease.

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Diversity and functional conse ...... 11 mutations in human disease.

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Diversity and functional conse ...... N11 mutations in human disease

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Diversity and functional conse ...... 11 mutations in human disease.

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Diversity and functional conse ...... 11 mutations in human disease.

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Diversity and functional conse ...... N11 mutations in human disease

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Diversity and functional conse ...... 11 mutations in human disease.

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Diversity and functional conse ...... 11 mutations in human disease.

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American Journal of Human Genetics

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Diversity and functional conse ...... 11 mutations in human disease.

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Antonio Palleschi

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Bruce D Gelb

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Elisabetta Flex

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Ineke van der Burgt

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Mariella Sorcini

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Simone Martinelli

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Tamara C Petrucci

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

Crystal structure of the tyrosine phosphatase SHP-2

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

MOLMOL: a program for display and analysis of macromolecular structures

The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling

Multiple lentigines syndrome. Case report and review of the literature

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome

Mutations of PTPN11 are rare in adult myeloid malignancies

Germ-line and somatic PTPN11 mutations in human disease

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279-290

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10.1086/499925

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Viviana Cordeddu

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