PubMed for id: 766212

Year	Number of Results
2009	1
2012	2
2014	1
2015	1
2016	2
2017	1
2018	1
2019	1
2021	1
2023	0

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.

2

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

Ijaz A, Wolf S, Mandukhail SR, Basit S, Betz RC, Wali A. Ijaz A, et al. J Dermatol Sci. 2019 Sep;95(3):113-118. doi: 10.1016/j.jdermsci.2019.08.003. Epub 2019 Aug 9. J Dermatol Sci. 2019. PMID: 31421932

3

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

4

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X, Huang Y, Yan M, Li J, Ding C, Jin H, Fang F, Yang Y, Wu B, Chen D. Wang X, et al. Sci Rep. 2017 Oct 20;7(1):13686. doi: 10.1038/s41598-017-14034-3. Sci Rep. 2017. PMID: 29057985 Free PMC article.

5

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.

6

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

Wilson BT, Lochan A, Stark Z, Sutton RE. Wilson BT, et al. Am J Med Genet A. 2016 Mar;170(3):773-6. doi: 10.1002/ajmg.a.37501. Epub 2016 Jan 8. Am J Med Genet A. 2016. PMID: 26749132

7

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Hosseini M, Ezzedine K, Taieb A, Rezvani HR. Hosseini M, et al. J Invest Dermatol. 2015 Feb;135(2):341-351. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9. J Invest Dermatol. 2015. PMID: 25296907 Free article. Review.

8

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K. Zhang X, et al. Nat Genet. 2012 May;44(5):593-7. doi: 10.1038/ng.2228. Nat Genet. 2012. PMID: 22466612

9

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Nakazawa Y, et al. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.

10

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M. Nardo T, et al. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27. Proc Natl Acad Sci U S A. 2009. PMID: 19329487 Free PMC article.

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