Results 101 to 110 of about 2,256,617 (260)

A small RNA response at DNA ends in Drosophila [PDF]

, 2012
Small RNAs have been implicated in numerous cellular processes, including effects on chromatin structure and the repression of transposons. We describe the generation of a small RNA response at DNA ends in Drosophila that is analogous to the recently ...
Böttcher, Romy, Förstemann, Klaus, Michalik, Katharina M.   +2 more
core   +1 more source

ATRX: From Chromatin Remodeling to Disease

genesis, Volume 63, Issue 6, December 2025.
ABSTRACT Chromatin remodeling proteins are evolutionarily conserved factors involved in a wide range of biological processes. In this review, we describe ATRX, a chromatin remodeling protein belonging to the SWI/SNF2 family. Its association with different protein complexes, and its roles in embryonic development, sexual differentiation, as well as ...
Mauro Magaña‐Acosta, Viviana Valadez‐Graham   +1 more
wiley   +1 more source

Nucleotide excision repair genes shaping embryonic development [PDF]

Open Biology, 2019
Nucleotide excision repair (NER) is a highly conserved mechanism to remove helix-distorting DNA lesions. A major substrate for NER is DNA damage caused by environmental genotoxins, most notably ultraviolet radiation.
Sofia J. Araújo, Isao Kuraoka
doaj   +1 more source

Structural basis of TFIIH activation for nucleotide excision repair. [PDF]

, 2019
Nucleotide excision repair (NER) is the major DNA repair pathway that removes UV-induced and bulky DNA lesions. There is currently no structure of NER intermediates, which form around the large multisubunit transcription factor IIH (TFIIH).
Chernev, A., Cramer, P., Dienemann, C., Kokic, G., Tegunov, D., Urlaub, H.   +5 more
core   +2 more sources

Translational Aspects of DNA Damage Repair in Optimizing Cancer Chemotherapy

Advanced Genetics, Volume 6, Issue 4, December 2025.
This review systematically delineates the fundamental role and recent advancements in DNA damage response (DDR) within the context of cancer chemotherapy. Particular emphasis is directed toward exploring the interplay between DDR status and chemosensitivity.
Anqi Lin, Jinyue He, Aimin Jiang, Jian Zhang, Quan Cheng, Hengguo Zhang, Wenjun Mao, Peng Luo   +7 more
wiley   +1 more source

Progeroid Cockayne Syndrome

Вопросы современной педиатрии
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG ...
Anastasiya L. Kungurtseva, Alisa V. Vitebskaya   +1 more
doaj   +1 more source

Cockayne Syndrome B protein selectively interacts and resolves intermolecular DNA G-quadruplex structures [PDF]

, 2021
Denise Liano, Marco Di Antonio
openalex   +1 more source

Síndrome de Cockayne: Informe de un caso: revisión de la literatura [PDF]

, 2006
El Síndrome de Cockayne (CS) es un desorden genético con un patrón de herencia autosómico recesivo que fue descrito por primera vez en 1936 por Cockayne.
Aldape Barrios, B., Arenas Sordo, María de la Luz, Hernández Zamora, Edgar, Montoya Pérez, Luis A.   +3 more
core   +1 more source

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

Kindler Syndrome: A Case Report From a Developing Country

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Kindler syndrome can be diagnosed clinically even in the absence of genetic testing. Early recognition of the disease, combined with regular surveillance for malignancy and a multidisciplinary approach that includes attention to psychosexual health, is essential for improving patient outcomes, enhancing quality of life, and promoting social ...
Munawar Hraib, Cyrine Ali Deeb, Tala Dib, Roula Baddour   +3 more
wiley   +1 more source