Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Trieste, Italy. In Haematologica, Jun 2014
We identified 108 distinct variants of the FANCA, FANCG, FANCC, FANCD2, and FANCB genes in 85, 9, 3, 2, and 1 families, respectively.
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
Madrid, Spain. In Ideggyogy Sz, Dec 2013
Her molecular genetic mutations analysis in the FAH gene detected a common intronel mutation, affecting splicing and of predicted severe effect, IVS6-1 g > t/IVS6-1 g > t with systemic name c.456-1 g > t/c.456-1 g > t (Prof.
Recommendations for the management of tyrosinaemia type 1.
Brussels, Belgium. In Orphanet J Rare Dis, 2012
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Napoli, Italy. In Biol Chem, 2012
Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2(-/-) mice.
Tokyo, Japan. In Proc Jpn Acad Ser B Phys Biol Sci, 2011
They suggested that the primary enzyme deficiency in patients with HRT was fumarylacetoacetate hydrolase, and this was soon confirmed.
Fetal liver cell transplantation as a potential alternative to whole liver transplantation?
United States. In J Gastroenterol, 2011
The two best studied models are the urokinase plasminogen activator (uPA) transgenic mouse and the fumarylacetoacetate hydrolase (FAH)-deficient mouse, in which genetic modifications of the recipient liver provide a tissue environment in which there is extensive liver injury and selection pressure favoring the proliferation and survival of transplanted hepatocytes.
Paris, France. In Hematology Am Soc Hematol Educ Program, 2010
Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF).