Results 41 to 50 of about 25,299 (246)

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D) [PDF]

, 2013
BACKGROUND: To investigate the association of DNA nucleotide excision repair (NER) defects with neurological degeneration, cachexia and cancer, we performed autopsies on 4 adult xeroderma pigmentosum (XP) patients with different clinical features and ...
Alimchandani, Meghna, Aung, Phyu Phyu, Digiovanna, John J, Fine, Howard A, Hewitt, Stephen, Khan, Sikandar G, Kleiner, David E, Kraemer, Kenneth H, Lai, Jin-Ping, Lee, Chyi-Chia R, Levens, David L, Liu, Qingyan, Liu, Yen-Chun, Matsuda, Kant, Oberholtzer, J Carl, Patronas, Nicholas, Quezado, Martha M, Rushing, Elisabeth J, Tamura, Deborah, Tsokos, Maria   +19 more
core   +1 more source

Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype [PDF]

, 2009
Nucleotide excision repair (NER) is responsible for repairing bulky helix-distorting DNA lesions and is essential for the maintenance of genomic integrity.
Alison Spiers, Ann K. Daly, Brian Burtle, Elizabeth A. Williams, Fiona Caple, Gaivão, John C. Mathers, John E. Hesketh, John Tyson, Qiao, Tomasetti, Wei   +11 more
core   +1 more source

Xeroderma pigmentosum complicated by keratoacanthoma in a Kashmiri girl

Pigment International, 2018
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation.
Yasmeen J Bhat, Peerzada Sajad, Najmu Saqib, Iffat Hassan, Roohi Wani   +4 more
doaj   +1 more source

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways. [PDF]

, 2002
Illudin S is a natural sesquiterpene drug with strong anti-tumour activity. Inside cells, unstable active metabolites of illudin cause the formation of as yet poorly characterised DNA lesions.
Hoeijmakers, J.H.J. (Jan), Jaspers, N.G.J. (Nicolaas), Kelner, M.J. (Michael), McMorris, T.C. (Trevor), Ng, J.M.Y. (Jessica), Raams, A. (Anja), Takeda, S. (Shiunichi), Yamashita, Y.M. (Yukiko)   +7 more
core   +1 more source

Navigating the Genetic Risk of Chemotherapy‐Induced Hearing Loss in the Stria Vascularis

Clinical Pharmacology &Therapeutics, EarlyView.
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Tara Lazetic, Deanne Nixie R. Miao, Britt I. Drögemöller, Alain Dabdoub, Julia M. Abitbol   +4 more
wiley   +1 more source

Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review

Urology Case Reports, 2019
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP.
Katsuki Tsuchiyama, Yoshitaka Aoki, Hideaki Ito, Makoto Yoneda, Osamu Yokoyama   +4 more
doaj   +1 more source

Harnessing Free Radical Scavenging Potential of Caffeic Acid as a Nutraceutical—A Review

Food Safety and Health, EarlyView.
Caffeic acid has emerged as a promising bioactive molecule with multiple pharmacological properties, including antioxidant, antimicrobial, anti‐inflammatory, organ protective properties and metal‐chelating ability. This review emphasizes the dietary sources, structural characteristic, molecular mechanism underlying health promoting effects of caffeic ...
Pavitra Behra, Monika Bhadauria, Satendra Kumar Nirala   +2 more
wiley   +1 more source

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology [PDF]

, 2013
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder haracterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP
Bermúdez, Olga, Fonseca-Mendoza, Dora Janeth, Ine´s Vergara, Jéssica, Laissue, Paul, Medina, Claudia Liliana, Mosquera, Hernando, Ortega-Recalde, Oscar-Javier, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Ríos, Xiomara, Vargas, Clara   +10 more
core   +5 more sources

Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions [PDF]

, 2003
Nucleotide excision repair (NER) is the main DNA repair pathway in mammals for removal of UV-induced lesions. NER involves the concerted action of more than 25 polypeptides in a coordinated fashion.
Hoeijmakers, J.H.J. (Jan), Hoogstraten, D. (Deborah), Houtsmuller, A.B. (Adriaan), Mone, M.J., Nigg, A.L. (Alex), Rademakers, S. (Suzanne), Vermeulen, W. (Wim), Volker, M. (Marcel), Zeeland, A.A. (Albert) van   +8 more
core   +4 more sources

The Impact of Environmental Pollution and Climate Change on Allergic Rhinitis and Lung Diseases

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Environmental pollution and climate change seriously affect human health, leading to the onset and exacerbation of chronic respiratory diseases, such as allergic rhinitis and lung diseases. Over the past several decades, increasing air pollution and environmental exposure owing to global urbanization, industrialization, and rapid economic ...
Xin‐Yan Liu, Rui‐Ming Han, Yong‐Tai Wang, Dong‐Dong Zhu, Cui‐Da Meng   +4 more
wiley   +1 more source