Dyskeratosis congenita as a disorder of telomere maintenance. - Wikidata - awgldk - TriplyDB

Dyskeratosis congenita as a disorder of telomere maintenance.

Dyskeratosis congenita as a disorder of telomere maintenance.

http://www.wikidata.org/entity/Q35529338

about

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome Constitutional mutations in RTEL1 cause severe dyskeratosis congenita The genetics of dyskeratosis congenita Integration of Telomere Length Dynamics into Systems Biology Framework: A Review It all comes together at the ends: telomerase structure, function, and biogenesis Telomerase and idiopathic pulmonary fibrosis Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy Oxidative stress, DNA damage, and the telomeric complex as therapeutic targets in acute neurodegeneration Telomere maintenance and the etiology of adult glioma Realizing the promise of cancer predisposition genes.Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processing Telomeres and the natural lifespan limit in humans.Pneumococcal vaccine failure: can it be a primary immunodeficiency?The diagnosis and treatment of dyskeratosis congenita: a review.Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.Telomeres, atherosclerosis, and human longevity: a causal hypothesis.P. berghei telomerase subunit TERT is essential for parasite survival.Telomere length variation: A potential new telomere biomarker for lung cancer risk.Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.Reversibility of Defective Hematopoiesis Caused by Telomere Shortening in Telomerase Knockout Mice.Dyskerin and TERC expression may condition survival in lung cancer patients Genetic testing in diffuse parenchymal lung disease.Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita.Telomerase regulation.Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.Primary antibody deficiencies.Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Quality control: Genome maintenance in pluripotent stem cells.Beyond Telomerase: Telomere Instability as a Novel Target for Cancer Therapy.Modern management of phagocyte defects.Pre-Cancerous Lesions in the Oral and Maxillofacial Region: A Literature Review with Special Focus on Etiopathogenesis Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening Posttransplant lymphoproliferative disorder complicating hematopoietic stem cell transplantation in a patient with dyskeratosis congenita.X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora.

P2860

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P2860

Dyskeratosis congenita as a disorder of telomere maintenance.

http://www.wikidata.org/entity/Q35529338

description

2011 nî lūn-bûn

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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2011 թվականի հուլիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Dyskeratosis congenita as a disorder of telomere maintenance.

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Dyskeratosis congenita as a disorder of telomere maintenance.

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Dyskeratosis congenita as a disorder of telomere maintenance.

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Dyskeratosis congenita as a disorder of telomere maintenance.

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J.MRFMMM.2011.06.008

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Mutation Research

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Dyskeratosis congenita as a disorder of telomere maintenance.

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Alison A Bertuch

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Nya D Nelson

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P2860

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome

TIN2, a new regulator of telomere length in human cells

A telomerase component is defective in the human disease dyskeratosis congenita

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

TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage

Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53, and p21(CIP1), but not p16(INK4a)

Protein requirements for sister telomere association in human cells

A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2

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

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