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Quoted phrase not found in phrase index: "Trichothiodystrophy 2, photosensitive"
Page 1
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 an …
Genetic loss of nucleotide excision repair leads to severe disorders, namely, xeroderma pigmentosum (XP), trichothiodystrophy …
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.
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes inc …
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), ce …
The versatile DNA nucleotide excision repair (NER) and its medical significance.
Falik-Zaccai TC, Keren Z, Slor H. Falik-Zaccai TC, et al. Pediatr Endocrinol Rev. 2009 Dec;7(2):37-42. Pediatr Endocrinol Rev. 2009. PMID: 20118892 Review.
Mutations in a gene that encodes a protein from the NER machinery might cause a wide variety of rare inherited human disorders. Sun sensitivity, cancer, developmental retardation, neurodegeneration and premature aging characterize these syndromes. ...
Mutations in a gene that encodes a protein from the NER machinery might cause a wide variety of rare inherited human disorders. Sun s …
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Emmert S, et al. Exp Dermatol. 2009 Jan;18(1):64-8. doi: 10.1111/j.1600-0625.2008.00763.x. Epub 2008 Jul 7. Exp Dermatol. 2009. PMID: 18637129 Free PMC article.
We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age an …
We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive …
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA. Takayama K, et al. Am J Hum Genet. 1996 Feb;58(2):263-70. Am J Hum Genet. 1996. PMID: 8571952 Free PMC article.
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in approximately 50% of TTD patients …
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosi …
Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies.
Jaspers NG. Jaspers NG. Cytokines Mol Ther. 1996 Jun;2(2):115-9. Cytokines Mol Ther. 1996. PMID: 9384696 Review.
Defective NER may result in a high risk of UV-induced skin tumors, since it occurs in patients with the inherited disorder xeroderma pigmentosum (XP). However, Cockayne's syndrome (CS) and PIBIDS (a photosensitive form of trichothiodystrophy) are also disorders …
Defective NER may result in a high risk of UV-induced skin tumors, since it occurs in patients with the inherited disorder xeroderma pigment …
Different regulation of p53 stability in UV-irradiated normal and DNA repair deficient human cells.
Abrahams PJ, Schouten R, van Laar T, Houweling A, Terleth C, van der Eb AJ. Abrahams PJ, et al. Mutat Res. 1995 Mar;336(2):169-80. doi: 10.1016/0921-8777(94)00049-c. Mutat Res. 1995. PMID: 7885387
The stabilization of p53 protein was studied after UV exposure of normal human skin fibroblasts and cells derived from patients suffering from xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). The data show that p53 is transiently stabilized both in UV-irradiated n …
The stabilization of p53 protein was studied after UV exposure of normal human skin fibroblasts and cells derived from patients suffering fr …
A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy.
Charles CA, Connelly EA, Aber CG, Herman AR, Schachner LA. Charles CA, et al. Pediatr Dermatol. 2008 Mar-Apr;25(2):264-7. doi: 10.1111/j.1525-1470.2008.00649.x. Pediatr Dermatol. 2008. PMID: 18429798
The clinical presentation of trichothiodystrophy type F includes photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature, often referred to as the PIBIDS syndrome. While many of these patients demonstrate fe …
The clinical presentation of trichothiodystrophy type F includes photosensitivity, ichthyosis, brittle hair, intellectu …
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Graham JM Jr, et al. Am J Hum Genet. 2001 Aug;69(2):291-300. doi: 10.1086/321295. Epub 2001 Jul 3. Am J Hum Genet. 2001. PMID: 11443545 Free PMC article.
Another class of patients with CS symptoms have mutations in the XPB, XPD, or XPG genes, which result in UV hypersensitivity as well as defective global NER; such patients may concurrently have clinical features of another NER syndrome, xeroderma pigmentosum (XP). ...We pr …
Another class of patients with CS symptoms have mutations in the XPB, XPD, or XPG genes, which result in UV hypersensitivity as well as defe …