Found: 26
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Ex vivo assays to predict enhanced chemosensitization by hyperthermia in urothelial cancer of the bladder.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209101
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- Publication type:
- Article
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
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- Neurogenetics, 2022, v. 23, n. 4, p. 271, doi. 10.1007/s10048-022-00697-2
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- Article
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
- Published in:
- Nature, 2006, v. 444, n. 7122, p. 1038, doi. 10.1038/nature05456
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- Publication type:
- Article
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276
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- Publication type:
- Article
Different SWI/SNF complexes coordinately promote R-loop- and RAD52-dependent transcription-coupled homologous recombination.
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- Nucleic Acids Research, 2023, v. 51, n. 17, p. 9055, doi. 10.1093/nar/gkad609
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- Publication type:
- Article
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0520-1
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- Article
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
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- EMBO Molecular Medicine, 2023, v. 15, n. 11, p. 1, doi. 10.15252/emmm.202317973
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- Publication type:
- Article
Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late...
- Published in:
- Journal of Investigative Dermatology, 1998, v. 110, n. 5, p. 832, doi. 10.1046/j.1523-1747.1998.00171.x
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- Publication type:
- Article
UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.
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- Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230
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- Publication type:
- Article
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
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- Nature Genetics, 2004, v. 36, n. 7, p. 714, doi. 10.1038/ng1387
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- Publication type:
- Article
Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003431
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- Publication type:
- Article
Mislocalization of XPF-ERCC1 Nuclease Contributes to Reduced DNA Repair in XP-F Patients.
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- PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000871
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- Publication type:
- Article
Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk.
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- Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1133, doi. 10.1002/pd.1849
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- Publication type:
- Article
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience.
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- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 980, doi. 10.1002/pd.1541
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- Publication type:
- Article
A temperature-sensitive disorder in basal transcription and DNA repair in humans.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 299, doi. 10.1038/85864
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- Article
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
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- 2006
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- Publication type:
- journal article
DNA damage‐induced replication stress results in PA200‐proteasome‐mediated degradation of acetylated histones.
- Published in:
- EMBO Reports, 2018, v. 19, n. 10, p. 1, doi. 10.15252/embr.201745566
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- Publication type:
- Article
Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419
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- Article
Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
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- Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392
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- Publication type:
- Article
Neurological symptoms and natural course of xeroderma pigmentosum.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 8, p. 1979, doi. 10.1093/brain/awn126
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- Publication type:
- Article
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
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- Journal of Dermatology, 2012, v. 39, n. 12, p. 1016, doi. 10.1111/j.1346-8138.2012.01662.x
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- Publication type:
- Article
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 18, p. 1711, doi. 10.1093/hmg/ddab123
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- Publication type:
- Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
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- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351
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- Publication type:
- Article
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709
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- Publication type:
- Article
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
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- Publication type:
- Article
Attenuated XPC Expression Is Not Associated with Impaired DNA Repair in Bladder Cancer.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0126029
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- Publication type:
- Article