Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
about
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndromeTINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesThe genetics of dyskeratosis congenitaGenetic interstitial lung diseaseThe telomere syndromesDyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNPTelomeres in aging and disease: lessons from zebrafishTelomere and Telomerase Therapeutics in CancerReactivation of telomerase in cancerThe short and long telomere syndromes: paired paradigms for molecular medicineIt all comes together at the ends: telomerase structure, function, and biogenesisShort telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancyEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseTelomere shortening in human diseasesSmall RNAs with big implications: new insights into H/ACA snoRNA function and their role in human diseaseStructure of a functional ribonucleoprotein pseudouridine synthase bound to a substrate RNAFunctional and Structural Impact of Target Uridine Substitutions on the H/ACA Ribonucleoprotein Particle Pseudouridine Synthase,Structure of H/ACA RNP Protein Nhp2p Reveals Cis/Trans Isomerization of a Conserved Proline at the RNA and Nop10 Binding InterfaceTelomerase Regulation from Beginning to the EndCell biology of disease: Telomeropathies: an emerging spectrum disorderTwo pathways recruit telomerase to Saccharomyces cerevisiae telomeresLoss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysemaAdvances in the understanding of dyskeratosis congenitaPoly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA componentThe genomics of inherited bone marrow failure: from mechanism to the clinic.Zebrafish models for dyskeratosis congenita reveal critical roles of p53 activation contributing to hematopoietic defects through RNA processingTelomeres and disease.Genomic characterization of the inherited bone marrow failure syndromes.Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.Telomere biology and translational research.Syndromes of telomere shorteningAkt regulates TPP1 homodimerization and telomere protection.A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome.Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.Worldwide genetic structure in 37 genes important in telomere biology.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.The role of nuclear bodies in gene expression and disease.G-quadruplex nucleic acids and human diseaseGene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.InTERTpreting telomerase structure and function
P2860
Q21090064-71FA1320-E12B-4BBB-AEFE-B716B763008CQ24318921-5074A3F4-7EF0-425F-855F-334E28807EF7Q24599906-25458DA9-BCF4-443D-A836-0937871A9C47Q24626239-2EFC01B7-E6F9-48B8-AF03-4A11C13FC810Q24632444-71552B27-9497-421B-A142-0DFF1FB46900Q24647530-5AF6A804-64F2-4695-A255-628EFC548007Q26740023-2EFEB54E-B049-42D8-B567-1AA6349E0105Q26744808-D5E2F42B-E539-4F66-BFA9-245B1778D3FBQ26769014-4F35C501-B96D-4819-ABD6-D32D1BDC4A84Q26800388-F8819DAD-7F8E-41BA-A4F5-4365BCF85A38Q26823394-86881F05-A229-4209-98B9-CD3299A91926Q26852788-976CBD09-0546-4585-9CFB-DE826D15087AQ26991754-853E1474-27BB-4DCB-B7B0-A24FEC9123C1Q27004080-8790759A-112A-4889-B98E-86F4082CAF2DQ27016076-66580D6E-3D41-4AAA-ACB2-C37CB778E1FEQ27655679-3C81B798-133F-4D90-A41E-20E36D13B1A6Q27662691-69D8C97A-9BB2-4445-89DA-653D63642E56Q27670582-FE79475E-2DD9-4E50-BBCA-C8575D37A54BQ28075938-A7795B7D-328B-4DB3-9B60-0A60F9F284C8Q28385689-A76C295E-D528-4F7A-9D96-C3822B0DFD77Q28473883-80579773-C971-4487-BC7E-F0FE63F3A5CFQ28771473-3BCEB165-5AB6-40F1-8EAC-799E9D5D10DAQ29032085-39FAE32E-4601-4A66-BA3A-7D52954DBF99Q29147385-81E793CE-182A-4710-AA3C-463A5B45F7F8Q30235895-66A93176-959E-4A91-B215-AA4CE44858D6Q31047627-578B0EFC-182C-4893-AAB0-3F843C67EE4BQ33347458-8FAA38F2-D27D-4AC8-AD09-4C927DE2877FQ33411559-EA9AD8B4-1489-4132-A5D3-2DF96EF9326EQ33587591-3310057F-224E-4D1F-9AE3-766532FC4571Q33613946-52FF2501-A4F7-4FA4-AE0A-9CDFD181DCDDQ33638357-F9235D6E-2317-4C69-9ED4-9A28CE9CD6AFQ33732439-6F310A2D-6AFA-4158-B022-4EC1188AF5A2Q33813870-88466076-B6E4-40BF-AFAD-B2B3DF4D1050Q33933652-0E5D577B-819E-4710-976F-22C027DEF553Q33951786-DBCB6658-039A-4D12-BBD2-BFF39F5621DBQ34023475-5E81DA92-A3D4-4D68-BB42-9BA831C31FFFQ34038183-B80F82CC-6399-4B24-9FE6-A8238B5399E2Q34073316-30E082EE-88F2-4BFE-9204-3C42B20C8A3EQ34082438-7D32F6CD-07C1-4310-9634-C8D46E7D7672Q34146318-880F2754-6A41-467B-BF16-79B32C995C59
P2860
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
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
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@ast
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@en
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@nl
type
label
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@ast
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@en
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@nl
prefLabel
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@ast
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@en
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@nl
P2093
P2860
P3181
P356
P1476
Mutations in the telomerase co ...... yndrome dyskeratosis congenita
@en
P2093
Amanda Walne
Anna Marrone
Inderjeet Dokal
Martin Digweed
Michael Kirwan
Richard Beswick
Tom Vulliamy
P2860
P304
P3181
P356
10.1073/PNAS.0800042105
P407
P577
2008-06-10T00:00:00Z