about
The Shwachman-Diamond SBDS protein localizes to the nucleolusMitotic spindle destabilization and genomic instability in Shwachman-Diamond syndromeGenetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10The genetics of dyskeratosis congenitaGenetic interstitial lung diseaseTelomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenitaA mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaCap-Independent Translational Control of CarcinogenesisThe short and long telomere syndromes: paired paradigms for molecular medicineIt all comes together at the ends: telomerase structure, function, and biogenesisTelomerase and idiopathic pulmonary fibrosisThe inherited bone marrow failure syndromesCellular mechanisms of tissue fibrosis. 7. New insights into the cellular mechanisms of pulmonary fibrosisSmall RNAs with big implications: new insights into H/ACA snoRNA function and their role in human diseaseMutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA.YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.Telomere length is associated with disease severity and declines with age in dyskeratosis congenitaMouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processingMechanisms limiting body growth in mammalsAdvances in the understanding of dyskeratosis congenitaRNase MRP and diseaseA spectrum of severe familial liver disorders associate with telomerase mutations.Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.[Dyskeratosis congenita in a 40-year-old patient]Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenitaFrequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease.Neonatal manifestations of inherited bone marrow failure syndromes.Myelodysplastic syndromes: Contemporary review and how we treat.NLStradamus: a simple Hidden Markov Model for nuclear localization signal prediction.Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancersLung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.Telomeres and immunological diseases of agingZinsser-Cole-Engmann syndrome: A rare case report with literature review.Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
P2860
Q24300969-4D3EFDDA-C3AF-4751-94F5-13F8AB731989Q24321611-0123D57A-48E4-4985-82C7-DD616F274750Q24597936-5B1337E4-531F-4E9D-9D85-4277377BBCDAQ24599906-8384AD10-217F-4874-8122-19DC60D3B730Q24626239-8C7B139A-D195-48E9-8FF6-70D6B7E95724Q24680286-997D28EF-0172-42CF-9479-B7A1FD6B5979Q24799321-18920D9F-64A2-49A7-9B6F-652CF5E308D5Q26744030-FBEB9A0B-2890-4D88-9661-88E672696350Q26800388-198F07E7-92FF-4B19-BAEA-F302B44671A8Q26823394-5165462E-A75B-434D-BF64-E05E9B830EACQ26825080-7D021C8C-D5E0-47D6-B952-B88A1A48136CQ26999046-1006466D-428A-4787-B46E-3E5315489ED1Q27003892-97067609-44AF-47DD-A9BD-D67EDC6FD32BQ27016076-CBFB2E77-F611-4608-B389-ACAB30B52B3DQ27640301-B3C13B4F-FD02-46BB-8920-0B3EDA7A45A8Q27642573-9E365A1E-FC38-44FC-AC04-D77BE505E2BCQ28112103-062FE0DC-4704-4CBA-9C86-212A9C66C9C4Q28507063-8BCC4C3A-73CE-46F0-878B-5FED536DCDE6Q28728958-7D7602E9-12CC-4181-BDAF-5295DC204814Q29032085-D2EB7549-1BC4-4B98-A5F0-A525FC7BAE83Q30048481-B355B039-1E11-4AB4-A6EA-6CAD93744C3BQ30913791-2071FD9E-8282-4F4B-B6E1-80DC52399232Q33346928-0EF2B39E-6D81-4D97-B81F-753F4D0677E4Q33365577-3C20ED8A-E1D2-4EA4-9E62-1DCFEAE7789BQ33378030-ABD7F688-7A63-42B7-8323-40709BE91FFFQ33389382-3B296D54-C523-4353-86D5-7654AB630B25Q33393940-F27B47DD-5CB5-4DCD-85A5-0E753055D89DQ33410841-3E78230A-6729-4C52-9883-9FE8A5F7A9C0Q33418691-CFCAACDA-B110-4D19-8FB7-54E77062059AQ33428864-76FE051C-53C8-4079-97DB-BA70EF387EFCQ33429195-F2E9281C-9746-4E63-84CD-35D3A0926C13Q33475952-A43EB8B0-CF84-4700-AC31-08C6525DFDF9Q33587591-FC4A9BD3-A1BC-4F61-BB39-F866063CEAB2Q33717429-0D7C06F6-1CAB-43A1-B52C-D2B7D12AC5FBQ33898355-4C4A4F93-BEE5-424D-8D27-2E11E1A10FF9Q33933652-ACA0359D-489F-4469-A8E0-90742EED4B0BQ34023475-D8982D50-0DA7-4E10-9703-E46D2CD41193Q34051060-E46296AD-0A80-4581-BC3D-FE22A80A02F9Q34053258-E081D306-1BA2-4E34-925F-1C0058A70E55Q34212004-762793AC-7BCC-4E97-BC7F-3B13B24871B5
P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Dyskeratosis congenita in all its forms.
@ast
Dyskeratosis congenita in all its forms.
@en
Dyskeratosis congenita in all its forms.
@nl
type
label
Dyskeratosis congenita in all its forms.
@ast
Dyskeratosis congenita in all its forms.
@en
Dyskeratosis congenita in all its forms.
@nl
prefLabel
Dyskeratosis congenita in all its forms.
@ast
Dyskeratosis congenita in all its forms.
@en
Dyskeratosis congenita in all its forms.
@nl
P2860
P1476
Dyskeratosis congenita in all its forms.
@en
P2093
P2860
P304
P356
10.1046/J.1365-2141.2000.02109.X
P407
P577
2000-09-01T00:00:00Z