Results 51 to 60 of about 25,299 (246)

Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and syste [PDF]

, 2000
Exposure to UV-B radiation impairs immune responses in mammals by inhibiting especially Th1-mediated contact hypersensitivity and delayed-type hypersensitivity.
Boer, J. (Jan) de, Dijk, M. (Mariska) van, Fluitman, A., Garssen, J. (Johan), Gruijl, F.R. (Frank) de, Hoeijmakers, J.H.J. (Jan), Horst, G.T.J. (Gijsbertus) van der, Kranen, H. (Henk) van, Loveren, H. (Henk) van, Steeg, H. (Harry) van, Weeda, G. (Geert)   +10 more
core   +1 more source

XERODERMA PIGMENTOSUM. [PDF]

Journal of the American Medical Association, 1899
This "truly wonderful and terrible disease," as Dr. R. W. Taylor designates it, was first described by Hebra and Kaposi in their "Lehrbuch der Haulkrankheiten," in 1870. A disease peculiar to early life, presenting polymorphous symptoms, chronic and unending in its course, indelible in its disfigurements, prone even from its benign lesions to destroy ...
openaire   +1 more source

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
wiley   +1 more source

BASAL CELL CARCINOMA IN XERODERMA PIGMENTOSUM IN AN 18.YEAR.OLD MALE

Majalah Kedokteran Andalas, 2014
Xeroderma pigmentosum (XP) is a rare autosomalrecessiye disorder that occurs becauseof inactivation of the xeroderma pigmentosum protein, which is an important DNA damagerecognition protein involved in DNA nucleotide excision repair (NER).
Satya Wydya Yenny, Frien Refla Syarif
doaj   +1 more source

Polo‐like kinases and UV‐induced skin carcinogenesis: What we know and what's next

Photochemistry and Photobiology, EarlyView.
The polo‐like kinase (PLK) family plays distinct and critical roles in the regulation of cell cycle progression, and its dysregulation has been implicated in various cancers. Ultraviolet (UV) radiation is a well‐established environmental factor in the development of skin cancer.
Tanya Jaiswal, Durdana Muntaqua, Gagan Chhabra, Nihal Ahmad   +3 more
wiley   +1 more source

De Sanctis–Cacchione syndrome: A case report and literature review

International Journal of Women's Dermatology, 2015
De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe ...
Ziba Rahbar, MD, MPH, Mohsen Naraghi
doaj   +1 more source

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient [PDF]

, 2009
This article has been made available through the Brunel Open Access Publishing Fund.Background: Radiotherapy-induced DNA double strand breaks (DSB) are critical cytotoxic lesions.
Abbaszadeh, F, Arlett, CF, Bourton, EC, Clingen, PH, Green, MHL, Makarov, EM, Newbold, RF, Parris, CN, Plowman, PN, Themis, M   +9 more
core  

Possible involvement of keratinocyte‐derived microvesicle particles in human photosensitivity disorders

Photochemistry and Photobiology, EarlyView.
In this model, ROS generated by UVB result in PAFR agonists acting upon the PAFR resulting in MVP generation release via the enzyme aSMase. In photosensitivity, there are increased ROS, resulting in augmented PAF agonists and increased MVP release. This process can be blocked by aSMase inhibitors.
Risha Annamraju, Madison S. Owens, Anita Thyagarajan, Danielle A. Corbin, Catherine M. T. Sherwin, Jade Bryant, Garrett W. Fisher, Winston R. Owens, Alycia Ketter, Aadil Umerani, Craig A. Rohan, Michael G. Kemp, Robyn K. Crow, Jeffrey B. Travers   +13 more
wiley   +1 more source

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]

, 2015
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo, Domínguez, Anna, Ferrando, Juan, García-Veigas, Javier, Gómez-Flores, Minerva, Mir-Bonafé, José, Ocampo-Candiani, Jorge, Salas-Alanis, Julio C.   +7 more
core   +2 more sources

Arrhythmic expression signatures of circadian clock‐associated transcription factors and chronic circadian disruption contribute to advanced prostate cancer growth

International Journal of Cancer, Volume 158, Issue 3, Page 775-789, 1 February 2026.
What's new? Circadian rhythm disruption potentially fuels prostate cancer progression. The mechanisms and signaling molecules contributing to hormonal tumorigenesis, however, remain largely undefined. In this study, circadian expression patterns of core‐circadian controlled genes (CCCGs) and nuclear receptors (NRs) were investigated in advanced ...
Ria Chopra, Haolong Li, Wenjuan Xie, Daniel Hau Tak Lam, Franky Leung Chan   +4 more
wiley   +1 more source