Results 111 to 120 of about 10,371 (225)

Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells [PDF]

, 2010
Nucleotide excision repair (NER) is the most versatile DNA repair system that deals with the major UV photoproducts in DNA, as well as many other DNA adducts.
Cloney, Ross, Fousteri, Maria I, Japers, Nicolaas G, Lehmann, Alan R, Limsirichaikul, Siripan, Miki, Yoshio, Mullenders., Leon H F, Nakazawa, Yuka, Niimi, Atsuko, Ogi, Tomoo, Overmeer, René M, Takenaka, Katsuya, Volker, Marcel, Yamashita, Shunichi   +13 more
core   +3 more sources

Xeroderma Pigmentosum: a case report with oral implications [PDF]

, 2012
Xeroderma Pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation and carcinogenic agents.
Antônio Barreto, Jaison, Ferreira Rocha, Julierme, Humberto Damante, José, Lopes Cardoso, Camila, Ramos Fernandes, Luciana Maria, Teixeira Soares, Cleverson   +5 more
core   +1 more source

Ocular Findings in Cockayne Syndrome

American Journal of Ophthalmology, 1992
The ocular findings in eight patients with Cockayne syndrome included enophthalmos, hyperopia, poor pupillary dilation, and retinal dystrophy in all patients. Four patients had strabismus. Two patients had cataracts. Three patients had nystagmus. Visual acuity was relatively well preserved in six patients, including a 25-year-old man with a visual ...
Elias I. Traboulsi, Irene H. Maumenee, Inge De Becker   +2 more
openaire   +3 more sources

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  

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

Evaluation of Patients with Cockayne Syndrome

The Journal of Pediatric Academy
Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical
Hamit Acer, Gül Demet Özçora, Mehmet Canpolat, Muhammet Ensar Doğan, Zehra Filiz Kahraman, Sefer Kumandaş   +5 more
doaj   +1 more source

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD [PDF]

, 2016
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological
AM Kaindl, B. Dubern, C. Huebner, C. Mignot, D. Doummar, E. Faqeih, F. Alkuraya, M. Hashem, N. Kraemer, P. Josset, S. Picker-Minh   +10 more
core   +3 more sources

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics, 2017
Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity.
Maryam Taghdiri, Maryam Taghdiri, Hassan Dastsooz, Majid Fardaei, Majid Fardaei, Majid Fardaei, Sanaz Mohammadi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi   +8 more
doaj   +1 more source

Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency [PDF]

, 1994
Sun Kyu Park, Soo Hee Chang, Seog Beom Cho, Hong Sun Baek, Dae Yeol Lee   +4 more
openalex   +1 more source

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources