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Fanconi anemia, complementation group A

FAA, FAH, FANCA, fumarylacetoacetate hydrolase, fumarylacetoacetase
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, FANCC, FANCG
Papers using FAA antibodies
Cleavage and cytoplasmic relocalization of histone deacetylase 3 are important for apoptosis progression.
Akhtar Asifa, In PLoS Genetics, 2006
... Darmstadt, Germany), the anti-phospho ATM from Cell Signalling technology, Inc (Boston, MA), the anti-H2A.Z and anti-FANCA from Abcam Inc (Cambridge, MA), the ...
Current concepts: Prosthetic-joint infections.
Bergh Kåre et al., In Acta Orthopaedica, 2003
... , FAA agar (Merck) was incubated in an ...
Papers on FAA
Characteristic differences in barrier and hygroscopic properties between normal and cosmetic dry skin. II. Depth profile of natural moisturizing factor and cohesivity.
McGuiness et al., Trumbull, United States. In Int J Cosmet Sci, Jun 2014
Protein and free amino acids (FAA) on tape strips were extracted and analysed using high-throughput methods.
Adaptation to short photoperiods augments circadian food anticipatory activity in Siberian hamsters.
Prendergast et al., Chicago, United States. In Horm Behav, Jun 2014
Running wheel activity occurring within a 3h window immediately prior to actual or anticipated food delivery was operationally-defined as food anticipatory activity (FAA).
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology et al., 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.
Deletion of Fanca or Fancd2 dysregulates Treg in mice.
Pang et al., In Blood, Apr 2014
Fanconi anemia (FA) is a genetic disorder associated with bone marrow (BM) failure and leukemia.
Direct reprogramming of human fibroblasts to functional and expandable hepatocytes.
Hui et al., Shanghai, China. In Cell Stem Cell, Apr 2014
Upon transplantation into mice with concanavalin-A-induced acute liver failure and fatal metabolic liver disease due to fumarylacetoacetate dehydrolase (Fah) deficiency, hiHeps restore the liver function and prolong survival.
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Real et al., Madrid, Spain. In Nat Genet, Dec 2013
A discovery exome sequencing screen (n = 17), followed by a prevalence screen (n = 60), identified new genes mutated in this tumor coding for proteins involved in chromatin modification (MLL2, ASXL2 and BPTF), cell division (STAG2, SMC1A and SMC1B) and DNA repair (ATM, ERCC2 and FANCA).
The fate of tyrosinaemic Hungarian patients before the NTBC aera.
Ugarte et al., 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.
Reprogramming fibroblasts into bipotential hepatic stem cells by defined factors.
Hu et al., Shanghai, China. In Cell Stem Cell, Oct 2013
In the injured liver of fumarylacetoacetate hydrolase (Fah)-deficient mice, repopulating iHepSCs become hepatocyte-like cells.
In vitro expansion of single Lgr5+ liver stem cells induced by Wnt-driven regeneration.
Clevers et al., Utrecht, Netherlands. In Nature, Mar 2013
Such clonal organoids can be induced to differentiate in vitro and to generate functional hepatocytes upon transplantation into Fah(-/-) mice.
Recommendations for the management of tyrosinaemia type 1.
Spiekerkötter et al., 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.
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms.
Zhang et al., Miami, United States. In J Biol Chem, 2012
the nucleic acid-binding domain of FANCA is located primarily at its C terminus, where most disease-causing mutations are found.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Degan et al., 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.
Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
Arwert et al., Amsterdam, Netherlands. In Dna Repair (amst), 2012
null mutations in Fanca or Fancg are fully epistatic
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
Al-Sayed et al., Riyadh, Saudi Arabia. In Mol Genet Metab, 2011
We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I
Hepatorenal tyrosinemia.
Kitagawa, 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.
Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
Gyllensten et al., Uppsala, Sweden. In Gynecol Oncol, 2011
genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
Fetal liver cell transplantation as a potential alternative to whole liver transplantation?
Oertel, 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.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Surrallés et al., Barcelona, Spain. In Blood, 2011
All missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway.
Fanconi anemia.
Soulier, Paris, France. In Hematology Am Soc Hematol Educ Program, 2010
Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF).
Robust expansion of human hepatocytes in Fah-/-/Rag2-/-/Il2rg-/- mice.
Grompe et al., Portland, United States. In Nat Biotechnol, 2007
To provide a broadly useful hepatic xenorepopulation system, we generated severely immunodeficient, fumarylacetoacetate hydrolase (Fah)-deficient mice.
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