نتایج جستجو برای: fanconi anemia patients

تعداد نتایج: 2119640  

Journal: :British journal of haematology 2011
Sylvia T Singer Elliott P Vichinsky Nancy Sweeters Eliezer Rachmilewitz

Alter, B.P. (2003) Cancer in Fanconi anemia, 1927– 2001. Cancer, 97, 425–440. Baron, F., Sybert, V.P. & Andrews, R.G. (1989) Cutaneous and extracutaneous neutrophilic infiltrates (Sweet syndrome) in three patients with Fanconi anemia. Journal of Pediatrics, 115, 726–729. Briot, D., Mace-Aime, G., Subra, F. & Rosselli, F. (2008) Aberrant activation of stress-response pathways leads to TNF-alpha ...

Journal: :Current Biology 2003

Journal: :Blood 2000
A Beghini P Peterlongo C B Ripamonti L Larizza R Cairoli E Morra C Mecucci

1. Kupfer GM, Naf D, Suliman A, Pulsipher M, D’Andrea AD. The Fanconi anemia proteins FAA and FAC, interact to form a nuclear complex. Nat. Genet. 1997; 17:487-490. 2. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D’Andrea AD: Fanconi anemia proteins FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell Biol. 1999;19:4866-4873. 3. Savoia A, Garcia-Higuera I, D’Andrea AD:...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1986
C Diatloff-Zito D Papadopoulo D Averbeck E Moustacchi

Primary skin fibroblast cell lines from patients with Fanconi anemia were cotransfected with UV-irradiated pSV2neo plasmids and high molecular weight DNA from normal human cells. Restoration of a normal cellular resistance to mitomycin C (MMC) was observed provided that a Fanconi anemia cell line is selected for DNA-mediated transformation (neo gene) and that at least two successive rounds of t...

Journal: :Haematologica 2006
Nabil M Nuamah Erhan Hamaloglu Arif Ozdemir Ahmet Ozenc Chava Sozseker Cenk Sokmensuer

Fanconi anemia, an autosomal recessive and X-linked disorder, is known to be associated with a variety of neoplasms. Liver tumors are one of the most frequently observed neoplasms but the association between the two disorders remains obscure. We present a case of a 27-year old female Fanconi anemia patient diagnosed with a mass on the right lobe of the liver measuring 90x75x60 mm. Histopatholog...

Journal: :Blood 1994
A Butturini R P Gale

Fanconi anemia is an autosomal recessive disease characterized by a high risk of developing bone marrow (BM) failure and acute myelogenous leukemia. We studied growth of hematopoietic progenitor cells in long-term BM culture (LTBMC) in 8 persons with Fanconi anemia and BM failure. Although LTBMC were initiated with very few BM cells, an adherent layer formed in cultures from 7 persons. In these...

2017
Yuan Zhou Yongzheng He Wen Xing Peng Zhang Hui Shi Shi Chen Jun Shi Jie Bai Steven D. Rhodes Fengqui Zhang Jin Yuan Xianlin Yang Xiaofan Zhu Yan Li Helmut Hanenberg Mingjiang Xu Kent A. Robertson Weiping Yuan Grzegorz Nalepa Tao Cheng D. Wade Clapp Feng-Chun Yang

Fanconi anemia is a complex heterogeneous genetic disorder with a high incidence of bone marrow failure, clonal evolution to acute myeloid leukemia and mesenchymal-derived congenital anomalies. Increasing evidence in Fanconi anemia and other genetic disorders points towards an interdependence of skeletal and hematopoietic development, yet the impact of the marrow microenvironment in the pathoge...

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...

Journal: :Haematologica 2008
Philip S Rosenberg Blanche P Alter Wolfram Ebell

BACKGROUND Fanconi anemia is an inherited genomic instability syndrome associated with progressive bone marrow failure leading to death or the requirement for hematopoietic stem cell transplantation, acute myeloid leukemia, and solid tumors. Prior epidemiological studies have quantified the risks of bone marrow failure, acute myeloid leukemia and solid tumors, but these estimates have not been ...

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