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Trichothiodystrophy Syndromes 13
 
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18 documents found
1: Title: Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Authors: Rasheed, Madiha, et.al. .
Journal: Archives of dermatological research (Arch Dermatol Res), 2017 .
Snippet: The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2.
Affiliation: Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan. Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan. drshaheen@iiu.edu.pk. Department of Biology, Lahore Garrison University, Lahore, Pakistan. .
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2: Title: The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.
Authors: Gayarre, Javier, et.al. .
Journal: Journal of gynecologic oncology (J Gynecol Oncol), Vol. 27 (1): e7, 2016 .
Snippet: We also evaluated the association of GTF2H5 with survival at the transcriptional level by using the on-line Kaplan-Meier plotter tool, which includes gene expression and survival data of 855 high-grade serous ovarian cancer patients from 13 different datasets.
Affiliation: Human Genetics Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain. Department of Pathology, Fundación Jiménez Díaz-IDC Salud, Madrid, Spain. Department of Genetics, Reproduction, and Fetal Medicine, IBIS, University Hospital Virgen del Rocio, CSIC, University of Seville, Seville, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain. Medical Oncology Service, Oncologic Center Clara Campal, Madrid, Spain. Department of Oncology, Fundación Hospital Alcorcón, Alcorcon, Spain. Familial Cancer Unit and Medical Oncology Department, Hospital 12 de Octubre, Madrid, Spain. Department of Oncology, Hospital General de Albacete, Albacete, Spain. Medical Oncology Service, Hospital Sant Pau, Barcelona, Spain. Breast Cancer Clinical Research Unit, Spanish National Cancer Research Center (CNIO), Madrid, Spain. Pathology and Translational Oncology Research Laboratories, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain. Medical Oncology Service, Instituto de Investigación Sanitaria Gregorio Marañón, Universidad Complutense, Madrid, Spain. Medical Oncology Service, Hospital Severo Ochoa, Madrid, Spain. Department of Internal Medicine, Hospital Severo Ochoa, Madrid, Spain. Laboratory of Genetics, Hospital Donostia, San Sebastian, Spain. Department of Obstetrics and Gynecology, Hospital Universitario Quirón-Dexeus, Barcelona, Spain. Department of Medical Oncology, Hospital La Paz IdiPAZ, Madrid, Spain. Medical Oncology Service, Hospital 12 de Octubre, Madrid, Spain. Pathology Research Laboratory, Department of Pathology, Hospital La Paz IdiPAZ, and Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain. Department of Pathology, Hospital Universitario Ramón y Cajal, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain. mjgarcia@cnio.es. .
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3: Title: N-acetyl-D-glucosamine kinase is a component of nuclear speckles and paraspeckles.
Authors: Sharif, Syeda Ridita, et.al. .
Journal: Molecules and cells (Mol Cells), Vol. 38 (5): 402-8, 2015 .
Snippet: Furthermore, NAGK IR cluster was also found to be colocalized with GTF2H5 (general transcription factor IIH, polypeptide 5) immuno reactive punctae.
Affiliation: Department of Anatomy, Dongguk Medical Institute, Dongguk University College of Medicine, Gyeongju 780-714, Korea. Dongguk Medical Institute, Dongguk University College of Medicine, Gyeongju 780-714, Korea. Department of Biochemistry, College of Medicine, Inje University, Busan 614-735, Korea. .
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4: Title: TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Authors: Singh, Amita, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 96 (2): 194-207, 2015 .
Snippet: Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD).
Affiliation: Genome Expression and Repair Team, Labellisée Ligue contre le Cancer 2014, Department of Functional Genomics and Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, INSERM, Université de Strasbourg, BP 163, 67404 Illkirch Cedex, CU Strasbourg, France. Genome Expression and Repair Team, Labellisée Ligue contre le Cancer 2014, Department of Functional Genomics and Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, INSERM, Université de Strasbourg, BP 163, 67404 Illkirch Cedex, CU Strasbourg, France. Electronic address: nlemay@igbmc.fr. Genome Expression and Repair Team, Labellisée Ligue contre le Cancer 2014, Department of Functional Genomics and Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, INSERM, Université de Strasbourg, BP 163, 67404 Illkirch Cedex, CU Strasbourg, France. Electronic address: egly@igbmc.fr. .
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5: Title: Ovarian steroids regulate gene expression related to DNA repair and neurodegenerative diseases in serotonin neurons of macaques.
Authors: Bethea, C L, et.al. .
Journal: Molecular psychiatry (Mol Psychiatry), Vol. 20 (12): 1565-78, 2015 .
Snippet: NBN1, PCNA (proliferating nuclear antigen), GADD45A (DNA damage-inducible), RAD23A (DNA damage recognition) and GTF2H5 (gene transcription factor 2H5) significantly increased with E or E+P treatment (all analysis of variance (ANOVA), P<0.01).
Affiliation: Division of Reproductive and Developmental Science, Oregon National Primate Research Center, Beaverton, OR, USA. Division of Neuroscience, Oregon National Primate Research Center, Beaverton, OR, USA. Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR, USA. .
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6: Title: Sequential and ordered assembly of a large DNA repair complex on undamaged chromatin.
Authors: Ziani, Salim, et.al. .
Journal: The Journal of cell biology (J Cell Biol), Vol. 206 (5): 589-98, 2014 .
Snippet: In nucleotide excision repair (NER), damage recognition by XPC-hHR23b is described as a critical step in the formation of the preincision complex (PInC) further composed of TFIIH, XPA, RPA, XPG, and ERCC1-XPF.
Affiliation: Department of Functional Genomics and Cancer, Equipe Labellisée Ligue 2014; and Department of Development Biology and Stem Cells, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/University of Strasbourg, 67404 Illkirch Cedex, Communauté urbaine de Strasbourg, France. Department of Functional Genomics and Cancer, Equipe Labellisée Ligue 2014; and Department of Development Biology and Stem Cells, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/University of Strasbourg, 67404 Illkirch Cedex, Communauté urbaine de Strasbourg, France fredr@igbmc.fr. .
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7: Title: TTDA: big impact of a small protein.
Authors: Theil, Arjan F, et.al. .
Journal: Experimental cell research (Exp Cell Res), Vol. 329 (1): 61-8, 2014 .
Snippet: Surprisingly, next to being essential for NER, TTDA appeared to be required also for embryonic development, indicative for the big impact this small protein has on basal biological processes.
Affiliation: Department of Genetics, Cancer Genomics Netherlands, Erasmus MC, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands. Department of Genetics, Cancer Genomics Netherlands, Erasmus MC, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands. Electronic address: j.hoeijmakers@erasmusmc.nl. .
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8: Title: Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Authors: Moriwaki, Shinichi, et.al. .
Journal: The Journal of dermatology (J Dermatol), Vol. 41 (8): 705-8, 2014 .
Snippet: We herein describe the first Japanese case with a novel mutation in the GTF2H5 gene responsible for TTD-A.
Affiliation: Department of Dermatology, Osaka Medical College, Osaka; Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine, Hamamatsu. .
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9: Title: DNA methylation changes in genes frequently mutated in sporadic colorectal cancer and in the DNA repair and Wnt/β-catenin signaling pathway genes.
Authors: Farkas, Sanja A, et.al. .
Journal: Epigenomics, Vol. 6 (2): 179-91, 2014 .
Snippet: RESULTS: We found significantly aberrant methylation in 23 genes (NEIL1, NEIL3, DCLRE1C, NHEJ1, GTF2H5, CCNH, CTNNB1, DKK2, DKK3, FZD5 LRP5, TLE3, WNT2, WNT3A, WNT6, TCF7L1, CASP8, EDNRB1, GPC6, KIAA1804, MYO1B, SMAD2 and TTN).
Affiliation: Department of Laboratory Medicine, Örebro University Hospital; Örebro, Sweden. .
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10: Title: Whole transcriptome sequencing identifies tumor-specific mutations in human oral squamous cell carcinoma.
Authors: Zhang, Qu, et.al. .
Journal: BMC medical genomics (Bmc Med Genomics), Vol. 6, 2013 .
Snippet: We further identified 515 significantly mutated genes (SMGs) and 156 tumor-specific disruptive genes (TDGs), with six genes in both sets, including ANKRA2, GTF2H5, STOML1, NUP37, PPP1R26, and TAF1L.
Affiliation: Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA. quzhang@post.harvard.edu. .
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11: Title: In vivo interactions of TTDA mutant proteins within TFIIH.
Authors: Nonnekens, Julie, et.al. .
Journal: Journal of cell science (J Cell Sci), Vol. 126 (Pt 15): 3278-83, 2013 .
Snippet: Trichothiodystrophy group A (TTD-A) patients carry a mutation in the transcription factor II H (TFIIH) subunit TTDA.
Affiliation: CNRS, IPBS, 205 route de Narbonne, 31077 Toulouse, France. .
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12: Title: Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
Authors: Moslehi, Roxana, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 20 (6): 626-31, 2012 .
Snippet: Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP).
Affiliation: Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Albany, NY 12144, USA. rmoslehi@albany.edu .
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13: Title: Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
Authors: Theil, Arjan F, et.al. .
Journal: Molecular and cellular biology (Mol Cell Biol), Vol. 31 (17): 3630-8, 2011 .
Snippet: The photohypersensitive form of TTD is caused by inherited mutations in three of the 10 subunits of the basal transcription factor TFIIH. TFIIH is an essential transcription initiation factor that is also pivotal for nucleotide excision repair (NER).
Affiliation: Department of Genetics, Erasmus MC, Molewaterplein 50, 3015 GE Rotterdam, The Netherlands. .
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14: Title: Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Authors: Boyle, Jennifer, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 29 (10): 1194-208, 2008 .
Snippet: In TTD cells with defects in the XPD, XPB, or GTF2H5 (TTDA) genes, in contrast, recruitment of these NER proteins was reduced compared to normals at early time points (p<0.001) and remained low at 24 hr postirradiation.
Affiliation: DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA. .
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15: Title: Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
Authors: Vitorino, Marc, et.al. .
Journal: Journal of molecular biology (J Mol Biol), Vol. 368 (2): 473-80, 2007 .
Snippet: Trichothiodystrophy (TTD) is a rare hereditary multi-system disorder associated with defects in nucleotide excision repair (NER) and transcription as consequences of mutations in XPB, XPD and p8/TTD-A subunits of transcription factor IIH (TFIIH).
Affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, UMR 7104, 1 rue Laurent Fries, BP 10142, 67404 Illkirch Cedex, France. .
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16: Title: A tiny protein plays a big role in DNA repair.
Journal: PLoS biology (Plos Biol), Vol. 4 (6): e184, 2006 .
No Abstract available.
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17: Title: Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells.
Journal: PLoS biology (Plos Biol), Vol. 4 (6): e156, 2006 .
Snippet: Transcription/repair factor IIH (TFIIH) is essential for RNA polymerase II transcription and nucleotide excision repair (NER).
Affiliation: Department of Cell Biology and Genetics, Medical Genetics Center, Erasmus Medical Center, Rotterdam, Netherlands. .
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18: Title: A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Journal: Nature genetics (Nat Genet), Vol. 36 (7): 714-9, 2004 .
Snippet: Microinjection of cDNA encoding TFB5 (GTF2H5, also called TTDA) corrected the DNA-repair defect of TTD-A cells, and we identified three functional inactivating mutations in this gene in three unrelated families with TTD-A.
Affiliation: Department of Genetics, Medical Genetic Cluster, Erasmus MC, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. .
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