Results 81 to 90 of about 11,060 (134)

Xeroderma pigmentosum et dermoscopie

The Pan African Medical Journal, 2013
Le Xeroderma pigmentosum (XP) est une génodermatose rare, fréquente au Maghreb vu le taux élevé de mariage consanguin. Ses manifestations cutanées sont dominées par la fréquence de cancers cutanés.
Kawtar Inani, Fatimazahra Mernissi
doaj   +1 more source

Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein [PDF]

, 2017
In mammalian nucleotide excision repair, the DDB1-DDB2 complex recognizes UV-induced DNA photolesions and facilitates recruitment of the XPC complex. Upon binding to damaged DNA, the Cullin 4 ubiquitin ligase associated with DDB1-DDB2 is activated and ...
Dohmae, Naoshi, Fischer, Eric S., Hanaoka, Fumio, Iwai, Shigenori, Matsumoto, Syota, Mori, Toshio, Nishi, Ryotaro, Sakai, Wataru, Sugasawa, Kaoru, Thomä, Nicolas H., Yasuda, Takeshi, Yoshino, Ken-ichi   +11 more
core  

Hypomorphic PCNA mutation underlies a novel human DNA repair disorder [PDF]

, 2014
A number of human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair.
Baple, Emma L, Chambers, Helen, Chioza, Barry A, Coblentz, Roselyn, Crosby, Andrew H, Cross, Harold E, Fawcett, Heather, Green, Catherine M, Harlalka, Gaurav V, Jackson, Andrew P, Last, James I, Lehmann, Alan R, Mansour, Sahar, Muggenthaler, Martina, Nakazawa, Yuka, Ogi, Tomoo, Patton, Michael A, Rich, Phillip, Sreekantan-Nair, Ajith, Stein, Constance K, Taylor, A Malcolm R, Wagner, Karin   +21 more
core  

Xeroderma pigmentosum and psychosis: A case report

Psychiatry and Clinical Psychopharmacology, 2021
Xeroderma pigmentosum (XP) is a very rare inherited disease that causes extreme sensitivity to the ultraviolet ray of sun. It is characterized by a genetic change in the DNA repair system.
Demet Dankı, Tuncer Okay, Nesrin Dilbaz
doaj  

The TFIIH Subunit p89 (XPB) Localizes to the Centrosome during Mitosis

Cellular Oncology, 2010
Background: The general transcription factor II H (TFIIH), comprised of a core complex and an associated CAK-complex, functions in transcription, DNA repair and cell cycle control. Mutations of the two largest subunits, p89 (XPB) and p80 (XPD), cause the
Achim Weber, Hye-Jung Chung, Erik Springer, Dirk Heitzmann, Richard Warth   +4 more
doaj   +1 more source

Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum [PDF]

, 2013
Xeroderma pigmentosum (XP) is a rare genetic disorder associated with multiple oculocutaneous and neurological manifestations. It occurs due to deficiency of the enzymes responsible for repairing ultraviolet radiation-induced DNA damage.
Ajay R Kamath, Gurudutt M Kamath, Manjunath M Kamath, Rajesh R Nayak, Roopashree, Susan D'Souza   +5 more
core   +1 more source

Contrasting Ocular Manifestations of Xeroderma Pigmentosum in Siblings

Clinical Case Reports
Xeroderma Pigmentosum (XP) can present with markedly different ocular severities even among siblings sharing the same genetic background. Early detection and preventive care are crucial to reduce the risk of vision‐ and life‐threatening malignancies.
Mohammad Taher Rajabi, Ali Asadzadeh, Seyed Mohsen Rafizadeh, Amirhossein Aghajani, Amin Zand   +4 more
doaj   +1 more source

Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy [PDF]

, 2006
AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer.
Arias, F. (F.), Bandres, E. (Eva), Cubedo, E. (Elena), Garcia-Foncillas, J. (Jesús), Malumbres, R. (Raquel), Zarate, R. (Ruth)   +5 more
core  

Xeroderma pigmentosum (case report)

Indian Journal of Ophthalmology, 1990
Xeroderma pigmentosum is a rare, hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. A case with typical cutaneous and ocular lesions is reported.
Dubey Arvind, Nagar Madhu, Gupta Anita, Sahu Dinesh, Mishra Subodh   +4 more
doaj  

Xeroderma pigmentosum. Case presentation.

Medisur, 2008
Twelve years old patient (YGS), female, white, of rural origin; with history of facial and truncal bullae since the age of eight months when exposed to the sun light. It was first diagnosed as solar dermatitis.
Damaris Díaz Leonard, Arelis Herrera Alonso, Magdalena Vigera Fajardo   +2 more
doaj   +2 more sources