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Quoted phrase not found in phrase index: "UV-sensitive syndrome 1"
Page 1
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.
Its precise prevalence is still unknown, but, according to an estimate, its prevalence ratio is 1:100,000 worldwide. Until now, only three genes have been reported to be involved in the syndrome; the Excision Repair Cross-Complementing, Group 6, the Excision Repair Cross-C …
Its precise prevalence is still unknown, but, according to an estimate, its prevalence ratio is 1:100,000 worldwide. Until now, only …
Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
Brambullo T, Colonna MR, Vindigni V, Piaserico S, Masciopinto G, Galeano M, Costa AL, Bassetto F. Brambullo T, et al. Biomed Res Int. 2022 Jul 18;2022:8549532. doi: 10.1155/2022/8549532. eCollection 2022. Biomed Res Int. 2022. PMID: 35898688 Free PMC article. Review.
Search terms were "Xeroderma pigmentosum", "XP", "XPC", "Nucleotide excision repair", "NER", "POLH", "Dry pigmented skin", and "UV sensitive syndrome" meshed with the terms "Skin cancer", "Melanoma", and "NMSC". ...
Search terms were "Xeroderma pigmentosum", "XP", "XPC", "Nucleotide excision repair", "NER", "POLH", "Dry pigmented skin", and "UV …
Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D, Orioli D, Botta E. Ferri D, et al. Clin Genet. 2020 Jan;97(1):12-24. doi: 10.1111/cge.13545. Epub 2019 Apr 22. Clin Genet. 2020. PMID: 30919937 Review.
Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the cancer-prone xeroderma pigmentosum and the neurodevelopmental/progeroid conditions trichothiodystrophy, Cockayne syndrome an …
Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive synd …
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Horibata K, et al. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. doi: 10.1073/pnas.0404587101. Epub 2004 Oct 14. Proc Natl Acad Sci U S A. 2004. PMID: 15486090 Free PMC article.
UV-sensitive syndrome (UVsS) is a rare autosomal recessive disorder characterized by photosensitivity and mild freckling but without neurological abnormalities or skin tumors. ...
UV-sensitive syndrome (UVsS) is a rare autosomal recessive disorder characterized by photosensitivity and mild frecklin …
Stabilization of Ultraviolet (UV)-stimulated Scaffold Protein A by Interaction with Ubiquitin-specific Peptidase 7 Is Essential for Transcription-coupled Nucleotide Excision Repair.
Higa M, Zhang X, Tanaka K, Saijo M. Higa M, et al. J Biol Chem. 2016 Jun 24;291(26):13771-9. doi: 10.1074/jbc.M116.724658. Epub 2016 Apr 28. J Biol Chem. 2016. PMID: 27129218 Free PMC article.
UV-sensitive syndrome is an autosomal recessive disorder characterized by hypersensitivity to UV light and deficiency in transcription-coupled nucleotide excision repair (TC-NER), a subpathway of nucleotide excision repair that rapidly removes transcription-b …
UV-sensitive syndrome is an autosomal recessive disorder characterized by hypersensitivity to UV light and deficiency i …
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V. Calmels N, et al. Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0. Orphanet J Rare Dis. 2016. PMID: 27004399 Free PMC article.
Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. ...
Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome …
Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts.
Spivak G, Hanawalt PC. Spivak G, et al. DNA Repair (Amst). 2006 Jan 5;5(1):13-22. doi: 10.1016/j.dnarep.2005.06.017. Epub 2005 Aug 29. DNA Repair (Amst). 2006. PMID: 16129663
UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficient disease with mild clinical manifestations. ...
UV-sensitive syndrome (UV(S)S) is a human DNA repair-deficient disease with mild clinical manifestations. ...
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state.
Sin Y, Makimura F, Saijo M, Obika S. Sin Y, et al. Biochem Biophys Res Commun. 2018 Jun 2;500(2):163-169. doi: 10.1016/j.bbrc.2018.04.015. Epub 2018 Apr 9. Biochem Biophys Res Commun. 2018. PMID: 29625109
The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UV(S)S), a disorder that causes mild symptoms. ...In contrast, in CS patient cells, there is at least one allele with several mutations downstream o …
The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UV(S)S), …
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
Horibata K, Saijo M, Bay MN, Lan L, Kuraoka I, Brooks PJ, Honma M, Nohmi T, Yasui A, Tanaka K. Horibata K, et al. Genes Cells. 2011 Jan;16(1):101-14. doi: 10.1111/j.1365-2443.2010.01467.x. Epub 2010 Dec 9. Genes Cells. 2011. PMID: 21143350 Free article.
Two UV-sensitive syndrome patients who have mild photosensitivity without detectable somatic abnormalities lack detectable Cockayne syndrome group B (CSB) protein because of a homozygous null mutation in the CSB gene. ...
Two UV-sensitive syndrome patients who have mild photosensitivity without detectable somatic abnormalities lack detecta …
11 results