TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
about
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeThe genetics of dyskeratosis congenitaFinding the end: recruitment of telomerase to telomeresTelomeres-structure, function, and regulationTelomerase Regulation from Beginning to the EndHoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.Mitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic controlGenetics of familial melanoma: 20 years after CDKN2A.Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorderCell cycle regulated phosphorylation of the telomere-associated protein TIN2A role for heterochromatin protein 1γ at human telomeres.Dyskeratosis congenita as a disorder of telomere maintenance.Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.Essential roles for Pot1b in HSC self-renewal and survival.The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.Native gel electrophoresis of human telomerase distinguishes active complexes with or without dyskerin.Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita CellsSpecificity requirements for human telomere protein interaction with telomerase holoenzymeCold-inducible RNA-binding protein CIRP/hnRNP A18 regulates telomerase activity in a temperature-dependent manner.Hypothesis: Paralog Formation from Progenitor Proteins and Paralog Mutagenesis Spur the Rapid Evolution of Telomere Binding Proteins.Control of telomerase action at human telomeresThe shelterin complex and hematopoiesis.Multi-step coordination of telomerase recruitment in fission yeast through two coupled telomere-telomerase interfaces.The molecular genetics of the telomere biology disorders.A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shorteningShwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Dysfunctional telomeres and hematological disorders.Introduction to Telomeres and Telomerase.The C-terminal extension unique to the long isoform of the shelterin component TIN2 enhances its interaction with TRF2 in a phosphorylation- and dyskeratosis congenita-cluster-dependent fashion.[Dyskeratosis congenita: short telomeres are not the rule].
P2860
Q24318816-896190B7-61F2-48B5-83EC-2516F56E256BQ24599906-2351689E-8650-425E-BE00-26139DC58480Q24606549-581E2EA7-4ABD-4471-B002-1A722F49D44DQ26853108-0C939CD4-F604-4266-AF75-13B8E4BCA3E8Q28075938-EC73A74D-B3D0-49D8-89AB-893EC21854ADQ34271334-0376EC16-7AFA-4E38-B71F-B3BD6A4890AEQ34293477-10C8299D-839E-4E5F-B215-CB44F6E12587Q34449957-52616A6E-3C65-4107-B258-212938E17452Q34474968-640316FA-4FE9-40C6-A6C6-6C938206C89DQ34971916-EC035A06-589C-4169-870E-332D4653AB04Q35220214-18C56D79-108D-454A-9C1F-B1793264FF44Q35529338-00CED6E9-C0D5-4429-8AAE-4D393C494112Q35570923-C7847FC0-B776-46D6-9B62-EFE62451ACA0Q35604048-6F9EE3C8-2A9E-402A-8BEA-988892FB7A88Q35729880-82528FF7-1FD9-4F9C-AAB9-FB69C42C35F1Q35823674-109B7EEF-10E2-4DC4-BF17-BBA1F6143A93Q35918178-CB3DF721-6328-4A40-9C49-0B7C7B1A3096Q36298459-55D868E0-5FD8-4FE7-986D-3A500AA38CD3Q36532681-A9B5E46F-ED07-4BC5-9378-1AF7C2ABDADDQ36564417-349503AE-A224-4C50-B8E4-47408887238CQ36612394-7F8B4939-F24B-4A37-B8D2-E6636CA3E8FAQ36867317-FB3DE56F-739F-4A89-AB6B-7252AF5ECA8BQ37075140-97D8A5FF-F6CD-44C1-89DD-4FD2CC58707EQ37194194-4661E568-A7FB-45ED-BB45-E73F8384B379Q37541040-B096AC96-312F-4914-B60D-5D703A18C32DQ42660517-012BE26F-2012-4A20-9747-6141B012DFC2Q49997183-46B018D4-5E18-43AE-A8B7-DB5664823E08Q50054621-247A25CA-13EF-44C8-8C55-4E10E376878DQ51091931-C654780D-A549-49DA-BC97-2F3946F8946AQ52341133-B53CAB1B-34F2-4251-B7AB-A5C874CF9B62Q54496749-40503B45-AFE8-4C46-A872-F8022607BB7A
P2860
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին 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
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@ast
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@en
type
label
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@ast
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@en
prefLabel
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@ast
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@en
P2093
P2860
P356
P1476
TIN2 protein dyskeratosis cong ...... n association with telomerase.
@en
P2093
Hyeung Kim
Quanyuan He
Zhou Songyang
P2860
P304
23022-23030
P356
10.1074/JBC.M111.225870
P407
P577
2011-05-02T00:00:00Z