Results 21 to 30 of about 8,375 (152)

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Involvement of FANCD2 in Energy Metabolism via ATP5α

Scientific Reports, 2017
Growing evidence supports a general hypothesis that aging and cancer are diseases related to energy metabolism. However, the involvement of Fanconi Anemia (FA) signaling, a unique genetic model system for studying human aging or cancer, in energy ...
Panneerselvam Jayabal, Chi Ma, Manoj Nepal, Yihang Shen, Raymond Che, James Turkson, Peiwen Fei   +6 more
doaj   +1 more source

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF

BMC Medical Genetics, 2018
Background Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks.
Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer, Detlev Schindler   +13 more
doaj   +1 more source

Bioinformatics and Experimental Evaluation of UBE2W and SSX2IP Expression Levels in HepG2 Cancer Cells Treated with Melatonin

Journal of Mazandaran University of Medical Sciences, 2021
Background and purpose: The aim of this study was to bioinformatically and experimentally evaluate the effect of melatonin on the expression levels of UBE2W and SSX2IP genes in melatonin treated Human Hepatocellular carcinoma G2 (HepG2) cancer cell line.
Ali Rajabi, Ali Emami, Behnaz Barzegarzadeh Namarvar, Reza Safaralizadeh   +3 more
doaj  

L’anémie de Fanconi : gènes et fonction(s) revisités [PDF]

, 2005
Des mutations dans les gènes FANC sont responsables de l’anémie de Fanconi (AF), une maladie génétique de phénotype complexe incluant une pancytopénie, des malformations congénitales et une prédisposition élevée au cancer.
Moustacchi, Ethel, Papadopoulo, Dora
core   +1 more source

Preventing hereditary cancers caused by opportunistic carcinogens [PDF]

, 2011
Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core   +2 more sources

Gonadotropin-releasing hormone regulates expression of the DNA damage repair gene, Fanconi anemia A, in pituitary gonadotroph cells [PDF]

, 2004
Gonadal function is critically dependant on regulated secretion of the gonadotropin hormones from anterior pituitary gonadotroph cells. Gonadotropin biosynthesis and release is triggered by the binding of hypothalamic GnRH to GnRH receptor expressed on ...
Brown, Pamela, Chang, Lynda, Clinton, Michael, Larder, Rachel   +3 more
core   +1 more source

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology [PDF]

, 2015
Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time-consuming. Since next-generation sequencing technologies could
Cappelli, Enrico, Corti, Paola, D'Eustacchio, Angela, DE ROCCO, Daniela, Dufour, Carlo, Farruggia, Piero, Greco, Chiara, Marra, Nicoletta, Nicchia, Elena, Pallavicini, Alberto, Pecile, Vanna, Pillon, Marta, Ramenghi, Ugo, Savoia, Anna, Torelli, Lucio   +14 more
core   +2 more sources

A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair. [PDF]

, 2013
When DNA replication is stalled at sites of DNA damage, a cascade of responses is activated in the cell to halt cell cycle progression and promote DNA repair. A pathway initiated by the kinase Ataxia teleangiectasia and Rad3 related (ATR) and its partner
Adachi, Jun, Ikura, Masae, Ikura, Tsuyoshi, Ishiai, Masamichi, Itaya, Akiko, Kamiya, Kenji, Kobayashi, Masahiko, Maehara, Yoshihiko, Masuda, Yuji, Matsuda, Shun, Matsuda, Tomonari, Matsuura, Akira, Meetei, Amom Ruhikanta, Shigechi, Tomoko, Takata, Minoru, Tomida, Junya, Uchida, Emi, Unno, Junya, Yamamoto, Ken-Ichi   +18 more
core   +1 more source

Fanconi anemia : a model disease for studies on human genetics and advanced therapeutics [PDF]

, 2015
Fanconi anemia (FA) is characterized by bone marrow failure, malformations, and chromosome fragility. We review the recent discovery of FA genes and efforts to develop genetic therapies for FA in the last five years. Because current data exclude FANCM as
Bogliolo, Massimo
core   +2 more sources