Found: 72
Select item for more details and to access through your institution.
Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1282823
- By:
- Publication type:
- Article
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3448, doi. 10.1002/ajmg.a.62962
- By:
- Publication type:
- Article
Trichothiodystrophy hair shafts display distinct ultrastructural features.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 8, p. 1270, doi. 10.1111/exd.14614
- By:
- Publication type:
- Article
Knowledge is power.
- Published in:
- British Journal of Dermatology, 2022, v. 186, n. 4, p. 607, doi. 10.1111/bjd.21008
- By:
- Publication type:
- Article
Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 4, p. 913, doi. 10.1111/pde.14655
- By:
- Publication type:
- Article
Mortality‐associated immunological abnormalities in trichothiodystrophy: correlation of reduced levels of immunoglobulin and neutrophils with poor patient survival.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 4, p. 752, doi. 10.1111/bjh.15598
- By:
- Publication type:
- Article
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198011
- By:
- Publication type:
- Article
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 4, p. 296, doi. 10.1111/exd.12655
- By:
- Publication type:
- Article
Mutations in the TTDN1 Gene Are Associated with a Distinct Trichothiodystrophy Phenotype.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 3, p. 734, doi. 10.1038/jid.2014.440
- By:
- Publication type:
- Article
Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health.
- Published in:
- Photochemistry & Photobiology, 2015, v. 91, n. 2, p. 452, doi. 10.1111/php.12345
- By:
- Publication type:
- Article
Phenotype Evolution in Xeroderma Pigmentosum/Cockayne Syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Abstract
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
- Published in:
- Pigment Cell & Melanoma Research, 2014, v. 27, n. 3, p. 454, doi. 10.1111/pcmr.12226
- By:
- Publication type:
- Article
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
- Published in:
- Photodermatology, Photoimmunology & Photomedicine, 2014, v. 30, n. 2/3, p. 146, doi. 10.1111/phpp.12108
- By:
- Publication type:
- Article
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1250, doi. 10.1002/humu.22354
- By:
- Publication type:
- Article
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 831, doi. 10.1038/ejhg.2012.246
- By:
- Publication type:
- Article
Do Not Underestimate Nucleotide Excision Repair: It Predicts Not Only Melanoma Risk but Also Survival Outcome.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 7, p. 1713, doi. 10.1038/jid.2013.72
- By:
- Publication type:
- Article
Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 194, doi. 10.1093/brain/aws317
- By:
- Publication type:
- Article
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1308, doi. 10.1038/ejhg.2012.90
- By:
- Publication type:
- Article
Montagna Symposium 2011: 60th Anniversary-Advances in Science and Medicine Catalyzed by Pioneering Skin Research.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1317, doi. 10.1038/jid.2011.480
- By:
- Publication type:
- Article
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 4, p. 304, doi. 10.1111/j.1600-0625.2012.01446.x
- By:
- Publication type:
- Article
Shining a Light on Xeroderma Pigmentosum.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 2, p. 785, doi. 10.1038/jid.2011.426
- By:
- Publication type:
- Article
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1046, doi. 10.1002/pd.2829
- By:
- Publication type:
- Article
Transcriptional signatures of full-spectrum and non-UVB-spectrum solar irradiation in human skin.
- Published in:
- Pigment Cell & Melanoma Research, 2011, v. 24, n. 5, p. 972, doi. 10.1111/j.1755-148X.2011.00899.x
- By:
- Publication type:
- Article
Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells.
- Published in:
- Photochemistry & Photobiology, 2011, v. 87, n. 3, p. 729, doi. 10.1111/j.1751-1097.2011.00909.x
- By:
- Publication type:
- Article
Multiple Skin Cancers in Adults with Mutations in the XP-E (DDB2) DNA Repair Gene.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Founder Mutations in Xeroderma Pigmentosum.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 6, p. 1491, doi. 10.1038/jid.2010.76
- By:
- Publication type:
- Article
Genetic Diversity in Melanoma Metastases from a Patient with Xeroderma Pigmentosum.
- Published in:
- 2010
- By:
- Publication type:
- Letter
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 167, doi. 10.1002/humu.21166
- By:
- Publication type:
- Article
The nucleosome-binding protein HMGN2 modulates global genome repair.
- Published in:
- FEBS Journal, 2009, v. 276, n. 22, p. 6646, doi. 10.1111/j.1742-4658.2009.07375.x
- By:
- Publication type:
- Article
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
- Published in:
- Experimental Dermatology, 2009, v. 18, n. 1, p. 64, doi. 10.1111/j.1600-0625.2008.00763.x
- By:
- Publication type:
- Article
Activation of ATM depends on chromatin interactions occurring before induction of DNA damage.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 ( XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
- Published in:
- Human Mutation, 2008, v. 29, n. 10, p. 1194, doi. 10.1002/humu.20768
- By:
- Publication type:
- Article
Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392
- By:
- Publication type:
- Article
A Novel Complex Insertion/Deletion Mutation in the XPC DNA Repair Gene Leads to Skin Cancer in an Iraqi Family.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Structural and Molecular Hair Abnormalities in Trichothiodystrophy.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 10, p. 2210, doi. 10.1038/sj.jid.5700384
- By:
- Publication type:
- Article
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
- Published in:
- Carcinogenesis, 2006, v. 27, n. 1, p. 84
- By:
- Publication type:
- Article
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study.
- Published in:
- Carcinogenesis, 2005, v. 26, n. 6, p. 1085, doi. 10.1093/carcin/bgi055
- By:
- Publication type:
- Article
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 253, doi. 10.1038/sj.ejhg.5201296
- By:
- Publication type:
- Article
From proteomics to disease.
- Published in:
- Nature Genetics, 2004, v. 36, n. 7, p. 677, doi. 10.1038/ng0704-677
- By:
- Publication type:
- Article
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 343
- By:
- Publication type:
- Article
NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect?
- Published in:
- 2003
- By:
- Publication type:
- commentary
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 16, p. 3624, doi. 10.1093/nar/gkf469
- By:
- Publication type:
- Article
Relationship of Neurologic Degeneration to Genotype in Three Xeroderma Pigmentosum Group G Patients<sup>1</sup>.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 6, p. 972, doi. 10.1046/j.1523-1747.2002.01782.x
- By:
- Publication type:
- Article
Impaired Ultraviolet-B-Induced Cytokine Induction in Xeroderma Pigmentosum Fibroblasts.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 5, p. 1151, doi. 10.1046/j.0022-202x.2001.01525.x
- By:
- Publication type:
- Article
Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2539, doi. 10.1093/hmg/10.22.2539
- By:
- Publication type:
- Article
A Stop Codon in Xeroderma Pigmentosum Group C Families in Turkey and Italy: Molecular Genetic Evidence for a Common Ancestor.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 197, doi. 10.1046/j.1523-1747.2001.01424.x
- By:
- Publication type:
- Article
Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair.
- Published in:
- Nature Medicine, 2001, v. 7, n. 8, p. 961, doi. 10.1038/91008
- By:
- Publication type:
- Article
DNA polymerase η is an A-T mutator in somatic hypermutation of immunoglobulin variable genes.
- Published in:
- Nature Immunology, 2001, v. 2, n. 6, p. 537, doi. 10.1038/88740
- By:
- Publication type:
- Article