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Quoted phrase not found in phrase index: "Hair defect with photosensitivity and intellectual disability syndrome"
Page 1
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. Theil AF, et al. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. Am J Hum Genet. 2019. PMID: 31374204 Free PMC article.
Brittle and "tiger-tail" hair is the diagnostic hallmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wide spectrum of clinical features including ichthyosis, intellectual disability, decreased fertility, and short stature. ...We p …
Brittle and "tiger-tail" hair is the diagnostic hallmark of trichothiodystrophy (TTD), a rare recessive disease associated with a wid …
Nucleotide excision repair syndromes: molecular basis and clinical symptoms.
Bootsma D, Weeda G, Vermeulen W, van Vuuren H, Troelstra C, van der Spek P, Hoeijmakers J. Bootsma D, et al. Philos Trans R Soc Lond B Biol Sci. 1995 Jan 30;347(1319):75-81. doi: 10.1098/rstb.1995.0012. Philos Trans R Soc Lond B Biol Sci. 1995. PMID: 7746858 Review.
These are the prototype repair syndrome, xeroderma pigmentosum (XP) (seven genetic complementation groups, designated XP-A to XP-G), Cockayne's syndrome (two groups: CS-A and CS-B) and PIBIDS, a peculiar photosensitive form of the brittle hair disease …
These are the prototype repair syndrome, xeroderma pigmentosum (XP) (seven genetic complementation groups, designated XP-A to XP-G), …
Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.
Tuteja N, Tuteja R. Tuteja N, et al. Crit Rev Biochem Mol Biol. 2001;36(3):261-90. doi: 10.1080/20014091074192. Crit Rev Biochem Mol Biol. 2001. PMID: 11450971 Review.
The double-strand breaks in DNA are repaired by mechanisms that involve DNA protein kinase and recombination proteins. The defect in one of the repair protein results in three rare recessive syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiod …
The double-strand breaks in DNA are repaired by mechanisms that involve DNA protein kinase and recombination proteins. The defect in …
Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.
Pereira LB, Valente NYS, Rocha VB. Pereira LB, et al. An Bras Dermatol. 2018 Jan-Feb;93(1):135-137. doi: 10.1590/abd1806-4841.20187727. An Bras Dermatol. 2018. PMID: 29641717 Free PMC article.
Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle …
Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem i …
PIBI(D)S: clinical and molecular characterization of a new case.
Fortina AB, Alaibac M, Piaserico S, Peserico A. Fortina AB, et al. J Eur Acad Dermatol Venereol. 2001 Jan;15(1):65-9. doi: 10.1046/j.1468-3083.2001.00212.x. J Eur Acad Dermatol Venereol. 2001. PMID: 11451329 Review.
To the best of our knowledge, about 20 cases have been reported in the literature. Here we report the characterization of the hair, brain, ultraviolet sensitivity and DNA excision repair defects of a new patient affected by PIBI(D)S. The diagnosis of PIBI(D)S syn …
To the best of our knowledge, about 20 cases have been reported in the literature. Here we report the characterization of the hair, b …
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. Corbett MA, et al. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612912
PATIENTS AND METHODS: We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocr …
PATIENTS AND METHODS: We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability …
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals.
Ahrens C, Grewe M, Berneburg M, Grether-Beck S, Quilliet X, Mezzina M, Sarasin A, Lehmann AR, Arlett CF, Krutmann J. Ahrens C, et al. Proc Natl Acad Sci U S A. 1997 Jun 24;94(13):6837-41. doi: 10.1073/pnas.94.13.6837. Proc Natl Acad Sci U S A. 1997. PMID: 9192652 Free PMC article.
Cells from patients with xeroderma pigmentosum complementation group D (XP-D) and most patients with trichothiodystrophy (TTD) are deficient in excision repair of ultraviolet (UV) radiation-induced DNA damage. Although in both syndromes this defect is based on mutat …
Cells from patients with xeroderma pigmentosum complementation group D (XP-D) and most patients with trichothiodystrophy (TTD) are deficient …
Human diseases associated with defective DNA excision repair.
Wood RD. Wood RD. J R Coll Physicians Lond. 1991 Oct;25(4):300-3. J R Coll Physicians Lond. 1991. PMID: 1960684 Free PMC article. Review.
Dysfunction of excision repair in humans can lead to heritable diseases in which individuals are sensitive to mutagens, and have an increased risk of skin cancer. The best studied syndrome of this type is xeroderma pigmentosum. Recent research has revealed the genes which …
Dysfunction of excision repair in humans can lead to heritable diseases in which individuals are sensitive to mutagens, and have an increase …
Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.
Kleijer WJ, Beemer FA, Boom BW. Kleijer WJ, et al. Am J Med Genet. 1994 Aug 15;52(2):227-30. doi: 10.1002/ajmg.1320520220. Am J Med Genet. 1994. PMID: 7802014
We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased fertility (D), and short stature (S). The clinical findings fit into the PIBI(D)S syndrome and trichothiodystrophy. A remarkable and …
We describe a girl with photosensitivity (P), ichthyosis (I), brittle hair (B), impaired intelligence (I), possibly decreased …
G2 phase repair of X-ray-induced chromosomal DNA damage in trichothiodystrophy cells.
Sanford KK, Parshad R, Price FM, Tarone RE, Lehmann AR. Sanford KK, et al. Mutat Res. 1995 Feb;346(2):107-14. doi: 10.1016/0165-7992(95)90058-6. Mutat Res. 1995. PMID: 7885400
The repair of X-ray-induced DNA damage during G2 cell-cycle phase has been examined in lines of skin fibroblasts from three patients with trichothiodystrophy (TTD), one with apparently normal and two with defective nucleotide excision repair (NER). These responses are comp …
The repair of X-ray-induced DNA damage during G2 cell-cycle phase has been examined in lines of skin fibroblasts from three patients with tr …
12 results