نتایج جستجو برای: fanconi anemia

تعداد نتایج: 58591  

Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the ...

2016
S. Goncalves A. Yousefpour L. Durham A. M. Hegarty

Introduction: Fanconi anemia (FA) is a rare inherited disorder characterized by progressive bone marrow failure, congenital malformations and increased susceptibility to malignancies particularly acute myeloid leukemia and solid tumors such as head and neck, gastrointestinal and genitourinary tract carcinomas. the squamous cell carcinoma of the head and neck (HNscc), known for its aggressive gr...

2014
Jessica L. Wojtaszek Su Wang Hyungjin Kim Qinglin Wu Alan D. D'Andrea Pei Zhou

FAAP20 is an integral component of the Fanconi anemia core complex that mediates the repair of DNA interstrand crosslinks. The ubiquitin-binding capacity of the FAAP20 UBZ is required for recruitment of the Fanconi anemia complex to interstrand DNA crosslink sites and for interaction with the translesion synthesis machinery. Although the UBZ-ubiquitin interaction is thought to be exclusively en...

Journal: :Cancer research 2006
Tanja Pejovic Jane E Yates Hong Y Liu Laura E Hays Yassmine Akkari Yumi Torimaru Winifred Keeble R Keaney Rathbun William H Rodgers Allen E Bale Najim Ameziane C Michael Zwaan Abdellatif Errami Philippe Thuillier Fabio Cappuccini Susan B Olson Joanna M Cain Grover C Bagby

Fanconi anemia is an inherited cancer predisposition disease characterized by cytogenetic and cellular hypersensitivity to cross-linking agents. Seeking evidence of Fanconi anemia protein dysfunction in women at risk of ovarian cancer, we screened ovarian surface epithelial cells from 25 primary cultures established from 22 patients using cross-linker hypersensitivity assays. Samples were obtai...

Journal: :Blood 2000
T Reuter S Herterich O Bernhard H Hoehn H J Gross

Three of at least 8 Fanconi anemia (FA) genes have been cloned (FANCA, FANCC, FANCG), but their functions remain unknown. Using the yeast 2-hybrid system and full-length cDNA, the authors found a strong interaction between FANCA and FANCG proteins. They also obtained evidence for a weak interaction between FANCA and FANCC. Neither FANCA nor FANCC was found to interact with itself. These results...

2013
Kim-Hien T. Dao Michael D. Rotelli Brieanna R. Brown Jane E. Yates Juha Rantala Cristina Tognon Jeffrey W. Tyner Brian J. Druker Grover C. Bagby

Fanconi anemia hematopoietic stem cells display poor self-renewal capacity when subjected to a variety of cellular stress. This phenotype raises the question of whether the Fanconi anemia proteins are stabilized or recruited as part of a stress response and protect against stem cell loss. Here we provide evidence that FANCL, the E3 ubiquitin ligase of the Fanconi anemia pathway, is constitutive...

Journal: :Cancer research 2007
Céline Jacquemont Toshiyasu Taniguchi

Proteasome inhibitors sensitize tumor cells to DNA-damaging agents, including ionizing radiation (IR), and DNA cross-linking agents (melphalan and cisplatin) through unknown mechanisms. The Fanconi anemia pathway is a DNA damage-activated signaling pathway, which regulates cellular resistance to DNA cross-linking agents. Monoubiquitination and nuclear foci formation of FANCD2 are critical steps...

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