Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma - Wikidata - wikimedia - TriplyDB

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

http://www.wikidata.org/entity/Q35102528

about

Update in genetic susceptibility in melanoma Cross-species models of human melanoma The short and long telomere syndromes: paired paradigms for molecular medicine Telomere maintenance and the etiology of adult glioma Genomic analysis and clinical management of adolescent cutaneous melanoma.Melanoma genetics.Genetics of familial melanoma: 20 years after CDKN2A.Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells Dissecting Fission Yeast Shelterin Interactions via MICro-MS Links Disruption of Shelterin Bridge to Tumorigenesis Germline TERT promoter mutations are rare in familial melanoma.Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk.Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.Identification, genetic testing, and management of hereditary melanoma.A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.Hereditary melanoma: Update on syndromes and management: Emerging melanoma cancer complexes and genetic counseling The shelterin complex and hematopoiesis.Fundamental mechanisms of telomerase action in yeasts and mammals: understanding telomeres and telomerase in cancer cells.Stop pulling my strings - what telomeres taught us about the DNA damage response.Cytoplasmic RAP1 mediates cisplatin resistance of non-small cell lung cancer.The genomic landscape of cutaneous melanoma.Melanocytic nevi and melanoma: unraveling a complex relationship.Means to the ends: The role of telomeres and telomere processing machinery in metastasis.A population-based analysis of germline BAP1 mutations in melanoma.Telomere-driven diseases and telomere-targeting therapies.High accuracy of family history of melanoma in Danish melanoma cases.Common Delayed Senescence of Melanocytes from Multiple Primary Melanoma Patients The MeLiM Minipig: An Original Spontaneous Model to Explore Cutaneous Melanoma Genetic Basis.Telomeres: Implications for Cancer Development.Dysfunctional telomeres and hematological disorders.Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.Beginning at the ends: telomeres and human disease.Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.New susceptibility loci for cutaneous melanoma risk and progression revealed using a porcine model.

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P2860

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

http://www.wikidata.org/entity/Q35102528

description

2014 nî lūn-bûn

@nan

2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@ast

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@en

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@en-gb

type

label

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@ast

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@en

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@en-gb

prefLabel

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@ast

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

@en

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

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P1433

Journal of the National Cancer Institute

P1476

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

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P2093

Ake Borg

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Andrew J Ramsay

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Anne-Marie Gerdes

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Christian Ingvar

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David J Adams

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Elizabeth A Holland

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Göran Jönsson

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Helen Schmid

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Helen Snowden

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Jane M Palmer

http://www.w3.org/2001/XMLSchema#string

P2860

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

The POT1-TPP1 telomere complex is a telomerase processivity factor

PTOP interacts with POT1 and regulates its localization to telomeres

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

POT1 as a terminal transducer of TRF1 telomere length control

POT1 loss-of-function variants predispose to familial melanoma

Germline mutations in BAP1 predispose to melanocytic tumors

Rate of de novo mutations and the importance of father's age to disease risk

Fast and accurate short read alignment with Burrows-Wheeler transform

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scholarly article

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10.1093/JNCI/DJU408

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107

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Carlos López Otín

Víctor Quesada

Nelleke A Gruis

Antonia Pritchard

Peter Johansson

Julia A Newton Bishop

Mitchell S. Stark

Vanessa F Bonazzi

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2014-12-13T00:00:00Z

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269715469

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