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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 2
1993 1
1994 1
1995 1
1996 2
1997 1
1999 1
2000 2
2001 3
2003 3
2005 1
2006 4
2008 5
2009 8
2010 4
2011 1
2013 1
2014 2
2015 7
2016 7
2017 2
2018 2
2019 3
2020 2
2023 1
2024 0

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63 results

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Page 1
DNA damage, aging, and cancer.
Hoeijmakers JH. Hoeijmakers JH. N Engl J Med. 2009 Oct 8;361(15):1475-85. doi: 10.1056/NEJMra0804615. N Engl J Med. 2009. PMID: 19812404 Review. No abstract available.
Ethnic hair disorders.
Lindsey SF, Tosti A. Lindsey SF, et al. Curr Probl Dermatol. 2015;47:139-49. doi: 10.1159/000369414. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370652 Review.
Male fertility and skin diseases.
Abdel-Naser MB, Zouboulis CC. Abdel-Naser MB, et al. Rev Endocr Metab Disord. 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. Rev Endocr Metab Disord. 2016. PMID: 27342409 Review.
Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenita …
Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidi …
Xeroderma pigmentosum.
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y. Norgauer J, et al. Eur J Dermatol. 2003 Jan-Feb;13(1):4-9. Eur J Dermatol. 2003. PMID: 12609773 Review.
Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne Syndrome and trichothiodystrophy. Currently, there are reports of successful application of a topical DNA Repair Enzyme. ...
Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne …
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF, Häckes D, Lans H. Theil AF, et al. DNA Repair (Amst). 2023 Dec;132:103568. doi: 10.1016/j.dnarep.2023.103568. Epub 2023 Sep 7. DNA Repair (Amst). 2023. PMID: 37977600 Free article. Review.
TFIIH is essential for life and hereditary mutations in TFIIH cause the devastating human syndromes xeroderma pigmentosum, Cockayne syndrome or trichothiodystrophy, or combinations of these. ...
TFIIH is essential for life and hereditary mutations in TFIIH cause the devastating human syndromes xeroderma pigmentosum, Cockayne s …
Nucleotide excision repair genes shaping embryonic development.
Araújo SJ, Kuraoka I. Araújo SJ, et al. Open Biol. 2019 Oct 31;9(10):190166. doi: 10.1098/rsob.190166. Epub 2019 Oct 30. Open Biol. 2019. PMID: 31662099 Free PMC article. Review.
A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three human disorders caused by inherited defects in NER. The symptoms and severity of these …
A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation. Xeroderma pigmentosum, Cocka …
Trichoscopy in Hair Shaft Disorders.
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A. Rudnicka L, et al. Dermatol Clin. 2018 Oct;36(4):421-430. doi: 10.1016/j.det.2018.05.009. Epub 2018 Aug 16. Dermatol Clin. 2018. PMID: 30201151 Review.
In woolly hair the examination demonstrates hair shafts with waves at very short intervals. For trichothiodystrophy polarized trichoscopy should be used. In ectodermal dysplasias, trichoscopy shows a variety of hair abnormalities, but the most characteristic finding is hai …
In woolly hair the examination demonstrates hair shafts with waves at very short intervals. For trichothiodystrophy polarized trichos …
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Faghri S, et al. J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. J Med Genet. 2008. PMID: 18603627 Free PMC article. Review.
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. ...
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abn …
XPB: An unconventional SF2 DNA helicase.
Fan L, DuPrez KT. Fan L, et al. Prog Biophys Mol Biol. 2015 Mar;117(2-3):174-181. doi: 10.1016/j.pbiomolbio.2014.12.005. Epub 2015 Jan 30. Prog Biophys Mol Biol. 2015. PMID: 25641424 Review.
The importance of a fully functional XPB is clearly illustrated by the severe clinical consequences associated with inherited defects in XPB including UV-hypersensitive syndromes xeroderma pigmentosum (XP), Cockayne syndrome (CS), combined XP and CS (XP/CS), and trichot …
The importance of a fully functional XPB is clearly illustrated by the severe clinical consequences associated with inherited defects in XPB …
Molecular regulation of UV-induced DNA repair.
Shah P, He YY. Shah P, et al. Photochem Photobiol. 2015 Mar-Apr;91(2):254-64. doi: 10.1111/php.12406. Epub 2015 Jan 14. Photochem Photobiol. 2015. PMID: 25534312 Free PMC article. Review.
Genetic loss of nucleotide excision repair leads to severe disorders, namely, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS), which are associated with predisposition to skin carcinogenesis at a young age as well as developmental and neuro …
Genetic loss of nucleotide excision repair leads to severe disorders, namely, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) a …
63 results