Dyskeratosis congenita as a disorder of telomere maintenance.
about
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeConstitutional mutations in RTEL1 cause severe dyskeratosis congenitaThe genetics of dyskeratosis congenitaIntegration of Telomere Length Dynamics into Systems Biology Framework: A ReviewIt all comes together at the ends: telomerase structure, function, and biogenesisTelomerase and idiopathic pulmonary fibrosisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyOxidative stress, DNA damage, and the telomeric complex as therapeutic targets in acute neurodegenerationTelomere maintenance and the etiology of adult gliomaRealizing the promise of cancer predisposition genes.Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processingTelomeres 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 patientsGenetic 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 EtiopathogenesisAcute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shorteningPosttransplant 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.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Dyskeratosis congenita as a disorder of telomere maintenance.
@ast
Dyskeratosis congenita as a disorder of telomere maintenance.
@en
type
label
Dyskeratosis congenita as a disorder of telomere maintenance.
@ast
Dyskeratosis congenita as a disorder of telomere maintenance.
@en
prefLabel
Dyskeratosis congenita as a disorder of telomere maintenance.
@ast
Dyskeratosis congenita as a disorder of telomere maintenance.
@en
P2860
P1433
P1476
Dyskeratosis congenita as a disorder of telomere maintenance.
@en
P2093
Alison A Bertuch
Nya D Nelson
P2860
P356
10.1016/J.MRFMMM.2011.06.008
P407
P577
2011-07-02T00:00:00Z