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Biochemical and functional characterization of germ line KRAS mutations.

Biochemical and functional characterization of germ line KRAS mutations.

http://www.wikidata.org/entity/Q42910760

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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation The RASopathies A Conserved Phenylalanine as a Relay between the 5 Helix and the GDP Binding Region of Heterotrimeric Gi Protein Subunit RAS diseases in children A gain-of-function germline mutation in Drosophila ras1 affects apoptosis and cell fate during development Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia Computation of conformational coupling in allosteric proteins Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Noonan syndrome: clinical aspects and molecular pathogenesis.Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.Antagonistic effect of flavonoids on NSC-741909-mediated antitumor activity via scavenging of reactive oxygen species.Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms Noonan syndrome and clinically related disorders.Impact of KRAS, BRAF and PI3KCA mutations in rectal carcinomas treated with neoadjuvant radiochemotherapy and surgery.Specific activation of K-RasG12D allele in the bladder urothelium results in lung alveolar and vascular defects.Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site.KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.KRAS insertion mutations are oncogenic and exhibit distinct functional properties.Defective K-Ras oncoproteins overcome impaired effector activation to initiate leukemia in vivo High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients.Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.Differences in the regulation of K-Ras and H-Ras isoforms by monoubiquitination.Lymphatic vessel abnormalities arising from disorders of Ras signal transduction.Targeting protein tyrosine phosphatase SHP2 for therapeutic intervention.Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors.Mechanistic modeling to investigate signaling by oncogenic Ras mutants.Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.NRAS Mutations in Noonan Syndrome.Pathogenetics of the RASopathies.A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.KRAS Alleles: The Devil Is in the Detail.RAS mutants don't bind RAS GAPs or hydrolyze GTP Behavioral phenotype in Costello syndrome with atypical mutation: a case report.Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.Behavioral Profile in RASopathies

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P2860

Biochemical and functional characterization of germ line KRAS mutations.

http://www.wikidata.org/entity/Q42910760

description

2007 nî lūn-bûn

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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2007年论文

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2007年论文

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name

Biochemical and functional characterization of germ line KRAS mutations.

@en

Biochemical and functional characterization of germ line KRAS mutations.

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type

label

Biochemical and functional characterization of germ line KRAS mutations.

@en

Biochemical and functional characterization of germ line KRAS mutations.

@nl

prefLabel

Biochemical and functional characterization of germ line KRAS mutations.

@en

Biochemical and functional characterization of germ line KRAS mutations.

@nl

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Molecular and Cellular Biology

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Biochemical and functional characterization of germ line KRAS mutations.

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P2093

Charlotte M Niemeyer

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Christian P Kratz

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Hoa Nguyen

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Kevin Shannon

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Natalya Lyubynska

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Suzanne Schubbert

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P2860

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1

A cytoplasmic protein stimulates normal N-ras p21 GTPase, but does not affect oncogenic mutants

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

The guanine nucleotide-binding switch in three dimensions

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

Proteins regulating Ras and its relatives

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects

Germline KRAS mutations cause Noonan syndrome

Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein

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2169154

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