A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
about
DNA repair: dynamic defenders against cancer and agingDynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cellsDisruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethalityIdentification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsMechanisms of interstrand DNA crosslink repair and human disordersDisease-causing missense mutations in human DNA helicase disordersThe role of RecQ helicases in non-homologous end-joiningDifferentiation driven changes in the dynamic organization of Basal transcription initiationPhysiological consequences of defects in ERCC1-XPF DNA repair endonucleaseHypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient micePersistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.Gene expression profiling of xeroderma pigmentosum.Newly identified CHO ERCC3/XPB mutations and phenotype characterization.Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.Premature aging and cancer in nucleotide excision repair-disorders.The role of nuclear bodies in gene expression and disease.Cockayne syndrome and xeroderma pigmentosum.Deficiency in nucleotide excision repair family gene activity, especially ERCC3, is associated with non-pigmented hair fiber growth.Hypermutability in carcinogenesisMolecular characterization of mutant alleles of the DNA repair/basal transcription factor haywire/ERCC3 in Drosophila.Ocular manifestations of trichothiodystrophyAutosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.Impairment of alveolar macrophage transcription in idiopathic pulmonary fibrosis.Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair.Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.DNA helicases associated with genetic instability, cancer, and aging.From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.Trichothiodystrophy in a child with occult learning disorder.Phosphorylation of XPB helicase regulates TFIIH nucleotide excision repair activity.To grow or not to grow: hair morphogenesis and human genetic hair disordersChronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?DNA repair and transcriptional effects of mutations in TFIIH in Drosophila development.Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.Genomic footprints of dryland stress adaptation in Egyptian fat-tail sheep and their divergence from East African and western Asia cohorts.Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes.
P2860
Q21146053-22309BBC-6C11-40DC-A2CC-41E4CE8E9EEDQ21146056-AA2B2F40-132A-4F6B-98EB-DDF8F11E4D43Q24339524-87B2EAA8-03F1-4935-94A5-5C058843EAA2Q24530676-D33403D1-E033-4F25-9013-22DBBB9B0BDAQ24633351-48111D36-4B9E-4772-B4D6-769FEDDEE083Q26746868-812211D0-7BBD-44FA-A07E-20C014446054Q26828898-BDF5990A-0A4C-43CC-849F-4A25BD4756C8Q26829119-33ECC76E-7446-4A49-BF4A-EF2062707960Q27325737-834AA772-84BA-4DEF-8204-CCE470C719B3Q28238547-00491292-5E13-4A76-8970-048CC84E6E58Q28507519-4068FCA3-5DD1-4334-9CA2-A6916934439CQ33333583-C83E3557-4B64-4B6F-AA99-4B0B78CF0417Q33540030-1888175B-3058-40E3-8BF1-1D102091B8BDQ33672978-ED8B91BC-C851-47E2-9420-B3C125D0F381Q33951430-9968B965-1B76-4627-AFFD-7C0B4FFE48B4Q34025252-755BC0A7-FC0D-4748-8D1E-29EEBE83D511Q34038183-30B675B6-9D21-4CCD-B5FC-F06910D7451BQ34143455-CAC11230-8945-4DF9-8DAA-F6A03C0E4738Q34277167-71E39721-7E8E-4080-8381-1CF36D1087C5Q34603856-547FA6C9-7F81-4901-AB80-CC975F414791Q34606899-0F46BA0B-95A5-4DEA-AAFB-A61C860178D2Q35592622-A0E987BA-2721-4449-A2D8-AF6DC24B0521Q35677751-FF8CF2DD-9CDD-423E-9D67-FEED5B6F53E8Q35855157-F72ABB5B-25B9-4F75-8C16-48E64D75B999Q35865533-6D90EDEA-ABCA-4E26-8559-9A422B850913Q35924632-2306EB38-E8F3-442B-98BF-55D8B13430D8Q35961526-5419DC85-DE12-45E4-A659-B0621A87C597Q36425832-B5A23524-0E0D-4F3F-842B-008DBA52C52FQ37102008-35F23976-72B8-495A-AA05-23E0B9417F3AQ37700587-5FA7DFEC-4FDF-43A6-9916-B33160A2A001Q37705212-A4507EC3-4EC5-4848-948F-B1B5CD59128EQ38963019-B7816E8C-85EA-41AB-9449-689BB9769A90Q39640818-3682A8EC-6064-4B93-A9EA-E08163DBAE3CQ42513863-B1823D1D-34DA-44FA-9E6F-229D645B49CFQ47140078-B9504E82-4614-4DB4-8DCE-EDEB44CC5883Q52727631-BEC0748B-708B-4D1E-B44C-12E9E731F273
P2860
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@ast
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@en
type
label
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@ast
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@en
prefLabel
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@ast
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@en
P2093
P2860
P1476
A mutation in the XPB/ERCC3 DN ...... ated with trichothiodystrophy.
@en
P2093
Chevallier-Lagente O
Hoeijmakers JH
Vermeulen W
P2860
P304
P407
P577
1997-02-01T00:00:00Z