Germline mutations in shelterin complex genes are associated with familial glioma - Wikidata - awgldk - TriplyDB

Germline mutations in shelterin complex genes are associated with familial glioma

Germline mutations in shelterin complex genes are associated with familial glioma

http://www.wikidata.org/entity/Q28253456

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Further confirmation of germline glioma risk variant rs78378222 in TP53 and its implication in tumor tissues via integrative analysis of TCGA data 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 The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium Understanding inherited genetic risk of adult glioma - a review Comparative oncology: what dogs and other species can teach us about humans with cancer A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Molecular Architecture of Full-length TRF1 Favors Its Interaction with DNA Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy 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 Melanoma genetics.Genetics of familial melanoma: 20 years after CDKN2A.A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors 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 Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.Tying up the Ends: Plasticity in the Recognition of Single-Stranded DNA at Telomeres.Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.Critical role of the POT1 OB domain in maintaining genomic stability.A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.Complex interactions between the DNA-damage response and mammalian telomeres.Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk.The shelterin complex and hematopoiesis.The molecular genetics of the telomere biology disorders.Stop pulling my strings - what telomeres taught us about the DNA damage response.Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.Means to the ends: The role of telomeres and telomere processing machinery in metastasis.Telomere-driven diseases and telomere-targeting therapies.The Rise and Rise of Exome Sequencing.Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.RE: Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma.Modulation of telomere protection by the PI3K/AKT pathway.

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P2860

Germline mutations in shelterin complex genes are associated with familial glioma

http://www.wikidata.org/entity/Q28253456

description

2015 nî lūn-bûn

@nan

2015 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

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2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Germline mutations in shelterin complex genes are associated with familial glioma

@ast

Germline mutations in shelterin complex genes are associated with familial glioma

@en

Germline mutations in shelterin complex genes are associated with familial glioma

@nl

type

label

Germline mutations in shelterin complex genes are associated with familial glioma

@ast

Germline mutations in shelterin complex genes are associated with familial glioma

@en

Germline mutations in shelterin complex genes are associated with familial glioma

@nl

prefLabel

Germline mutations in shelterin complex genes are associated with familial glioma

@ast

Germline mutations in shelterin complex genes are associated with familial glioma

@en

Germline mutations in shelterin complex genes are associated with familial glioma

@nl

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Journal of the National Cancer Institute

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Germline mutations in shelterin complex genes are associated with familial glioma

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Ali Jalali

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Alison A Bertuch

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Beatrice S Melin

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Ching C Lau

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Daniel Lachance

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Donald W Parsons

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Donna M Muzny

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Dora Il'yasova

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Elizabeth B Claus

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Faith G Davis

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P2860

POT1 loss-of-function variants predispose to familial melanoma

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

Pot1, the putative telomere end-binding protein in fission yeast and humans

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

The epidemiology of glioma in adults: a "state of the science" review

Telomere length and risk of glioma

Description of selected characteristics of familial glioma patients - results from the Gliogene Consortium.

POT1 protects telomeres from a transient DNA damage response and determines how human chromosomes end

Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1.

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384

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594495

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10.1093/JNCI/DJU384

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1

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107

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Richard Houlston

Jill S Barnholtz-Sloan

Joellen M Schildkraut

Christoffer Johansen

Siegal Sadetzki

Christopher Amos

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2015-01-01T00:00:00Z

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269283347

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25482530

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