Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
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Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneProtein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansFunctional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingThe RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationModeling congenital disease and inborn errors of development in Drosophila melanogasterRASopathies: unraveling mechanisms with animal modelsThe RASopathiesThe neural crest in cardiac congenital anomaliesStructural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 MutationsMolecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 MutationsA Drosophila-centric view of protein tyrosine phosphatasesPhosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndromeKinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.Noonan syndrome: clinical aspects and molecular pathogenesis.Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndromeMolecular analysis of Aedes aegypti classical protein tyrosine phosphatases uncovers an ortholog of mammalian PTP-1B implicated in the control of egg production in mosquitoes.Ras in cancer and developmental diseasesLEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesityDisorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsUnderstanding intellectual disability through RASopathies.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.Noonan syndrome and clinically related disorders.The Q510E mutation in Shp2 perturbs heart valve development by increasing cell migration.Expression and clinical significance of tyrosine phosphatase SHP2 in thyroid carcinomaPTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?A tyrosine phosphatase SHP2 gain-of-function mutation enhances malignancy of breast carcinomaModeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes.Distinct and overlapping functions of ptpn11 genes in Zebrafish development.Dual faces of SH2-containing protein-tyrosine phosphatase Shp2/PTPN11 in tumorigenesis.New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.LEOPARD Syndrome: Clinical Features and Gene Mutations.Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.Feedback regulation of RTK signaling in development.Regulatory Mechanisms and Novel Therapeutic Targeting Strategies for Protein Tyrosine Phosphatases.
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P2860
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 October 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Phosphatase-defective LEOPARD ...... during Drosophila development.
@en
Phosphatase-defective LEOPARD ...... during Drosophila development.
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type
label
Phosphatase-defective LEOPARD ...... during Drosophila development.
@en
Phosphatase-defective LEOPARD ...... during Drosophila development.
@nl
prefLabel
Phosphatase-defective LEOPARD ...... during Drosophila development.
@en
Phosphatase-defective LEOPARD ...... during Drosophila development.
@nl
P2093
P2860
P50
P356
P1476
Phosphatase-defective LEOPARD ...... during Drosophila development.
@en
P2093
Cheryl C Tan
Cindy J Wang
Huiwen Ying
In-Kyong Kim
Kimihiko Oishi
Marek Mlodzik
Natalie Pica
Tabassum Rahman
P2860
P304
P356
10.1093/HMG/DDN336
P577
2008-10-11T00:00:00Z