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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.
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 …
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 …
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 …
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 …
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photopho …
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton synd …
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 …
TTDA: big impact of a small protein.
Theil AF, Hoeijmakers JH, Vermeulen W. Theil AF, et al. Exp Cell Res. 2014 Nov 15;329(1):61-8. doi: 10.1016/j.yexcr.2014.07.008. Epub 2014 Jul 10. Exp Cell Res. 2014. PMID: 25016283 Review.
Inherited mutations in TFIIH subunits are associated with NER-deficiency and a perplexing clinical heterogeneity, ranging from cancer-prone Xeroderma Pigmentosum to the progeroid diseases Cockayne Syndrome and Trichothiodystrophy (TTD). Three different TFIIH coding genes a …
Inherited mutations in TFIIH subunits are associated with NER-deficiency and a perplexing clinical heterogeneity, ranging from cancer-prone …
Hair loss in children.
Alves R, Grimalt R. Alves R, et al. Curr Probl Dermatol. 2015;47:55-66. doi: 10.1159/000369405. Epub 2015 Feb 20. Curr Probl Dermatol. 2015. PMID: 26370644 Review.
63 results