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Quoted phrase not found in phrase index: "Trichothiodystrophy 2, photosensitive"
Page 1
Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA. Maguina M, et al. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Muscle Nerve. 2023. PMID: 36190439 Free PMC article. Review.
One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve. Chronic motor, sensory, and sensorimotor polyneuropathies have all been observed in affected individuals, with specific physiologies associated with different ca …
One part of the nervous system that is impaired in certain DNA repair disorders is the peripheral nerve. Chronic motor, sensory, and …
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Pascolini G, Gaudioso F, Baldi M, Alario D, Dituri F, Novelli A, Baban A. Pascolini G, et al. J Hum Genet. 2023 Jun;68(6):437-443. doi: 10.1038/s10038-023-01134-4. Epub 2023 Feb 22. J Hum Genet. 2023. PMID: 36810639
To give further support to the observed results, a careful clinical revision was undertaken for each facial feature in paediatric patients with TTD1 or TTD2 or TTD3. Interestingly, a distinctive facial phenotype emerged by the NGP analysis delineating a specific craniofaci …
To give further support to the observed results, a careful clinical revision was undertaken for each facial feature in paediatric pat …
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN, Brosh RM Jr. Suhasini AN, et al. Mutat Res. 2013 Apr-Jun;752(2):138-152. doi: 10.1016/j.mrrev.2012.12.004. Epub 2012 Dec 28. Mutat Res. 2013. PMID: 23276657 Free PMC article. Review.
Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO. ...Chemical rescue may be an approach to restore helicase activity in loss-of-function helicase disorders. Genetic an …
Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, …
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G. Stefanini M, et al. Mutat Res. 1992 Mar;273(2):119-25. doi: 10.1016/0921-8777(92)90073-c. Mutat Res. 1992. PMID: 1372095 Review.
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, mental and growth retardation, peculiar face, ichthyosis, and in 20% of the reported cases photosensitivity. ...Among the 9 TTD-affected individuals, normal cellular UV s …
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair, mental and growth retardation, peculi …
Trichothiodystrophy causative TFIIEbeta mutation affects transcription in highly differentiated tissue.
Theil AF, Mandemaker IK, van den Akker E, Swagemakers SMA, Raams A, Wüst T, Marteijn JA, Giltay JC, Colombijn RM, Moog U, Kotzaeridou U, Ghazvini M, von Lindern M, Hoeijmakers JHJ, Jaspers NGJ, van der Spek PJ, Vermeulen W. Theil AF, et al. Hum Mol Genet. 2017 Dec 1;26(23):4689-4698. doi: 10.1093/hmg/ddx351. Hum Mol Genet. 2017. PMID: 28973399 Free PMC article.
About half of TTD patients are photosensitive due to inherited defects in the DNA repair and transcription factor II H (TFIIH). ...Here, we functionally characterize the consequence of a homozygous missense mutation in the general transcription factor II E, subunit 2 …
About half of TTD patients are photosensitive due to inherited defects in the DNA repair and transcription factor II H (TFIIH). ...He …
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Singh A, Compe E, Le May N, Egly JM. Singh A, et al. Am J Hum Genet. 2015 Feb 5;96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22. Am J Hum Genet. 2015. PMID: 25620205 Free PMC article.
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and tricho …
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH …
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F.
van Vuuren AJ, Appeldoorn E, Odijk H, Yasui A, Jaspers NG, Bootsma D, Hoeijmakers JH. van Vuuren AJ, et al. EMBO J. 1993 Sep;12(9):3693-701. doi: 10.1002/j.1460-2075.1993.tb06044.x. EMBO J. 1993. PMID: 8253091 Free PMC article.
In man, a NER defect due to a mutation in one of at least 11 distinct genes, can give rise to the inherited repair disorders xeroderma pigmentosum (XP), Cockayne's syndrome or PIBIDS, a photosensitive form of the brittle hair disease trichothiodystrophy. ...C …
In man, a NER defect due to a mutation in one of at least 11 distinct genes, can give rise to the inherited repair disorders xeroderm …
A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C.
Arlett CF, Harcourt SA, Cole J, Green MH, Anstey AV. Arlett CF, et al. Mutat Res. 1992 Mar;273(2):127-35. doi: 10.1016/0921-8777(92)90074-d. Mutat Res. 1992. PMID: 1372096
Data from other studies suggest that excision repair is more effective in stimulated than unstimulated T-lymphocytes leading to the prediction that these differences in survival should be minimal in cells established from excision defective donors. The prediction wa …
Data from other studies suggest that excision repair is more effective in stimulated than unstimulated T-lymphocytes leading to the predi …
A lack of radiation-induced ornithine decarboxylase activity prevents enhanced reactivation of herpes simplex virus and is linked to non-cancer proneness in xeroderma pigmentosum patients.
Terleth C, van Laar T, Schouten R, van Steeg H, Hodemaekers H, Wormhoudt T, Cornelissen-Steijger PD, Abrahams PJ, van der Eb AJ. Terleth C, et al. Cancer Res. 1997 Oct 1;57(19):4384-92. Cancer Res. 1997. PMID: 9331102
Various diploid fibroblast strains derived from a non-cancer-prone subclass of XP patients, which lack the ER response, were irradiated with 2 J/m2 and assessed for gene induction. In these fibroblasts, an absence of induction of ODC by UV-C was observed at the leve …
Various diploid fibroblast strains derived from a non-cancer-prone subclass of XP patients, which lack the ER response, were irradiated with …
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S, Saruwatari H, Kanzaki T, Kanekura T, Minoshima S. Moriwaki S, et al. J Dermatol. 2014 Aug;41(8):705-8. doi: 10.1111/1346-8138.12549. Epub 2014 Jul 2. J Dermatol. 2014. PMID: 24986372
Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very rare genodermatosis with deficient post-ultraviolet (UV) DNA repair. ...The present case is the first of TTD-A and the second case of TTD in Japan, suggesting that it i …
Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very rare genodermatosis with def …
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