POT1 loss-of-function variants predispose to familial melanoma - Test2 - elhamkhani - TriplyDB

POT1 loss-of-function variants predispose to familial melanoma

POT1 loss-of-function variants predispose to familial melanoma

http://www.wikidata.org/entity/Q24563091

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Disruption of Wnt/β-Catenin Signaling and Telomeric Shortening Are Inextricable Consequences of Tankyrase Inhibition in Human Cells Update in genetic susceptibility in melanoma Oncogenomic portals for the visualization and analysis of genome-wide cancer data Cross-species models of human melanoma Multiple Molecular Pathways in Melanomagenesis: Characterization of Therapeutic Targets The short and long telomere syndromes: paired paradigms for molecular medicine Pharmacogenetics and pharmacogenomics as tools in cancer therapy Telomere maintenance and the etiology of adult glioma Germline mutations in shelterin complex genes are associated with familial glioma Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer Structural and functional analysis of the human POT1-TPP1 telomeric complex.Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer Synthetic lethality: emerging targets and opportunities in melanoma.Genomic analysis and clinical management of adolescent cutaneous melanoma.Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma Melanoma genetics.The telomeric protein Pot1 from Schizosaccharomyces pombe binds ssDNA in two modes with differing 3' end availability.The effect on melanoma risk of genes previously associated with telomere length.Genetics of familial melanoma: 20 years after CDKN2A.Telomere-regulating genes and the telomere interactome in familial cancers.Telomere length and recurrence risk after curative resection in patients with early-stage non-small-cell lung cancer: a prospective cohort study.Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma Defective repair of uracil causes telomere defects in mouse hematopoietic cells.DCAF4, a novel gene associated with leucocyte telomere length.Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition Quantitative Fitness Analysis Identifies exo1∆ and Other Suppressors or Enhancers of Telomere Defects in Schizosaccharomyces pombe.A primary melanoma and its asynchronous metastasis highlight the role of BRAF, CDKN2A, and TERT Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis.Dissecting Fission Yeast Shelterin Interactions via MICro-MS Links Disruption of Shelterin Bridge to Tumorigenesis Exome sequencing of lymphomas from three dog breeds reveals somatic mutation patterns reflecting genetic background A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.Germline TERT promoter mutations are rare in familial melanoma.High nevus counts confer a favorable prognosis in melanoma patients.Recent developments in brain tumor predisposing syndromes.Therapeutic inhibition of TRF1 impairs the growth of p53-deficient K-RasG12V-induced lung cancer by induction of telomeric DNA damage Systematic Functional Interrogation of Rare Cancer Variants Identifies Oncogenic Alleles Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk.

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P2860

POT1 loss-of-function variants predispose to familial melanoma

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2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014 թվականի մայիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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POT1 loss-of-function variants predispose to familial melanoma

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Nature Genetics

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Andrew J Ramsay

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Helen Snowden

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Jane M Palmer

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Jessamy C Tiffen

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Jimmy Z Liu

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Jiyeon Choi

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Judith Symmons

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Karen A Pooley

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Kevin M Brown

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P2860

An integrated map of genetic variation from 1,092 human genomes

POT1 as a terminal transducer of TRF1 telomere length control

POT1 association with TRF2 regulates telomere length

Telomere measurement by quantitative PCR

Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing

Germline mutations in BAP1 predispose to melanocytic tumors

A landscape of driver mutations in melanoma

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

Fast and accurate short read alignment with Burrows-Wheeler transform

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

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10.1038/NG.2947

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5

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46

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Carlos López Otín

Víctor Quesada

Nelleke A Gruis

Antonia Pritchard

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Julia A Newton Bishop

Mitchell S. Stark

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2014-03-30T00:00:00Z

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