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Xeroderma pigmentosum.
Zghal M, Fazaa B, Abdelhak S, Mokni M. Zghal M, et al. Ann Dermatol Venereol. 2018 Nov;145(11):706-722. doi: 10.1016/j.annder.2018.09.004. Epub 2018 Nov 6. Ann Dermatol Venereol. 2018. PMID: 30409434 Review. French.
Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. ...This disease is related to a defect in genes within the nucleotide excision repair system for the first seven genetic groups …
Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by s …
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.
The majority of patients die before reaching adulthood because of metastases. Genetically, xeroderma pigmentosum is divided into 7 complementation groups (XP-A to XP-G) and the xeroderma pigmentosum variants (XP-V). Diagnostically, assignment to …
The majority of patients die before reaching adulthood because of metastases. Genetically, xeroderma pigmentosum is divided in …
XPG: a multitasking genome caretaker.
Muniesa-Vargas A, Theil AF, Ribeiro-Silva C, Vermeulen W, Lans H. Muniesa-Vargas A, et al. Cell Mol Life Sci. 2022 Mar 1;79(3):166. doi: 10.1007/s00018-022-04194-5. Cell Mol Life Sci. 2022. PMID: 35230528 Free PMC article. Review.
The XPG/ERCC5 endonuclease was originally identified as the causative gene for Xeroderma Pigmentosum complementation group G. Ever since its discovery, in depth biochemical, structural and cell biological studies have provided detailed mechanistic insi …
The XPG/ERCC5 endonuclease was originally identified as the causative gene for Xeroderma Pigmentosum complementation group …
Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H. Natale V, et al. Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. Orphanet J Rare Dis. 2017. PMID: 28376890 Free PMC article. Review.
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). ...There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP- …
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, …
XPG: its products and biological roles.
Schärer OD. Schärer OD. Adv Exp Med Biol. 2008;637:83-92. doi: 10.1007/978-0-387-09599-8_9. Adv Exp Med Biol. 2008. PMID: 19181113 Free PMC article. Review.
Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients displays a rather mild and typical XP phenotype. ...
Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients display …
The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies.
Han C, Huang X, Hua R, Song S, Lyu L, Ta N, Zhu J, Zhang P. Han C, et al. Medicine (Baltimore). 2017 Aug;96(32):e7467. doi: 10.1097/MD.0000000000007467. Medicine (Baltimore). 2017. PMID: 28796034 Free PMC article. Review.
If not properly repaired, the DNA damages may increase the risk of carcinogenesis. Xeroderma pigmentosum group G (XPG) gene is an essential gene in the nucleotide excision repair (NER) pathway. ...Moreover, significant association with breast cancer wa …
If not properly repaired, the DNA damages may increase the risk of carcinogenesis. Xeroderma pigmentosum group G …
The molecular basis of xeroderma pigmentosum.
Copeland NE, Hanke CW, Michalak JA. Copeland NE, et al. Dermatol Surg. 1997 Jun;23(6):447-55. doi: 10.1111/j.1524-4725.1997.tb00084.x. Dermatol Surg. 1997. PMID: 9217796 Review.
OBJECTIVE: To review the molecular basis of xeroderma pigmentosum. RESULTS: Deficiencies in various gene products in the nucleotide excision repair pathway cause xeroderma pigmentosum in complementation groups A-G. The molecular basis of the var …
OBJECTIVE: To review the molecular basis of xeroderma pigmentosum. RESULTS: Deficiencies in various gene products in the nucle …
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
Yang R, Kong Q, Duan Y, Li W, Sang H. Yang R, et al. BMC Med Genet. 2020 Mar 30;21(1):67. doi: 10.1186/s12881-020-00997-0. BMC Med Genet. 2020. PMID: 32228487 Free PMC article. Review.
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until they a …
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of …
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.
Itoh T. Itoh T. J Dermatol Sci. 2006 Feb;41(2):87-96. doi: 10.1016/j.jdermsci.2005.10.010. Epub 2005 Dec 1. J Dermatol Sci. 2006. PMID: 16325378 Review.
Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; variant (V)). Although genotype-phenotype correlations have been evaluated in most XP groups, the relationship between the E subgroup of xerode …
Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; varian …
33 results