Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita - Wikidata - awgldk - TriplyDB

Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita

Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita

http://www.wikidata.org/entity/Q33378030

about

Telomere protection by TPP1 is mediated by POT1a and POT1b Single strand DNA binding proteins 1 and 2 protect newly replicated telomeres CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion Multiple roles for MRE11 at uncapped telomeres.Crosstalk between telomere maintenance and radiation effects: A key player in the process of radiation-induced carcinogenesis.Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.Cooperation between p53 and the telomere-protecting shelterin component Pot1a in endometrial carcinogenesis.TRF1 negotiates TTAGGG repeat-associated replication problems by recruiting the BLM helicase and the TPP1/POT1 repressor of ATR signaling.Caenorhabditis elegans POT-1 and POT-2 repress telomere maintenance pathways.Congenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair.The role of double-strand break repair pathways at functional and dysfunctional telomeres.Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice LMP1 mediates multinuclearity through downregulation of shelterin proteins and formation of telomeric aggregates.Essential roles for Pot1b in HSC self-renewal and survival.Native gel electrophoresis of human telomerase distinguishes active complexes with or without dyskerin.A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.Critical role of the POT1 OB domain in maintaining genomic stability.CDK1 differentially regulates G-overhang generation at leading- and lagging-strand telomeres in telomerase-negative cells in G2 phase.Telomerase Deficiency Causes Alveolar Stem Cell Senescence-associated Low-grade Inflammation in Lungs.DNA repair at telomeres: keeping the ends intact.The shelterin complex and hematopoiesis.Spontaneous tumor development in bone marrow-rescued DNA-PKcs(3A/3A) mice due to dysfunction of telomere leading strand deprotection Dysfunctional telomeres induce p53-dependent and independent apoptosis to compromise cellular proliferation and inhibit tumor formation.p16(INK4a) protects against dysfunctional telomere-induced ATR-dependent DNA damage responses.Telomere dysfunction in human diseases: the long and short of it!Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes.Extracting extra-telomeric phenotypes from telomerase mouse models.A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Stem cell expansion during carcinogenesis in stem cell-depleted conditional telomeric repeat factor 2 null mutant mice.Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.The Rad50 hook domain regulates DNA damage signaling and tumorigenesis.Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation.Defending the end zone: studying the players involved in protecting chromosome ends Telomere dysfunction in human bone marrow failure syndromes.Telomere-end processing: mechanisms and regulation.Telomere-driven diseases and telomere-targeting therapies.Human Stn1 protects telomere integrity by promoting efficient lagging-strand synthesis at telomeres and mediating C-strand fill-in.Taking apart Rap1: an adaptor protein with telomeric and non-telomeric functions

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P2860

Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita

http://www.wikidata.org/entity/Q33378030

description

2008 nî lūn-bûn

@nan

2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

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2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@ast

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@en

type

label

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@ast

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@en

prefLabel

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@ast

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@en

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Molecular and Cellular Biology

P1476

Pot1b deletion and telomerase ...... embling dyskeratosis congenita

@en

P2093

Asha S Multani

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

Dennis A Garcia

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

Hua He

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

Jin Ma

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

Mei-Feng Shen

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

Mingjian James You

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

Sandy Chang

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

Sonal Ramchandani

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

Xiaolan Guo

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

Yang Wang

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

P2860

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

POT1 as a terminal transducer of TRF1 telomere length control

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Human protection of telomeres 1 (POT1) is a negative regulator of telomerase activity in vitro

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

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

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

P304

229-240

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scholarly article

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10.1128/MCB.01400-08

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1

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29

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2008-10-20T00:00:00Z

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18936156

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P921

haploinsufficiency

P932

2612488

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