GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
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)
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Papers using
FAA
antibodies
Cleavage and cytoplasmic relocalization of histone deacetylase 3 are important for apoptosis progression.
Supplier
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.
Supplier
In Acta Orthopaedica, 2003
... , FAA agar (Merck) was incubated in an ...
Papers on
FAA
Identification of a novel large intragenic deletion in a family with Fanconi anemia: First molecular report from India and review of literature.
New
Mumbai, India. In Gene, 15 May 2013
We also reviewed the literature of FANCA large intragenic deletions found in FA patients from different countries and the mechanism involved in the formation of these deletions.
In vitro expansion of single Lgr5+ liver stem cells induced by Wnt-driven regeneration.
New
Impact
Utrecht, Netherlands. In Nature, 14 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.
New
Brussels, Belgium. In Orphanet J Rare Dis, Dec 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.
Progesterone receptor isoforms in the mammary gland of cats and dogs.
New
Utrecht, Netherlands. In Reprod Domest Anim, Dec 2012
In cats with fibroadenomatous hyperplasia (FAH), high expression of PR mRNA together with growth hormone (GH), GH receptor (GHR) and IGF-I mRNA was found in comparison with feline mammary carcinomas.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Review
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.
Competing clocks: metabolic status moderates signals from the master circadian pacemaker.
Review
Ottawa, Canada. In Neurosci Biobehav Rev, 2012
Food anticipation and its behavioural manifestation, food anticipatory activity (FAA), require entrainment of a suprachiasmatic nucleus (SCN) independent circadian mechanism, a food entrainable oscillator (FEO), with an unknown neural substrate.
Hepatorenal tyrosinemia.
Review
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.
GeneRIF
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?
Review
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.
GeneRIF
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.
Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.
GeneRIF
Oulu, Finland. In Cancer Lett, 2011
FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations
Fanconi anemia.
Review
Paris, France. In Hematology Am Soc Hematol Educ Program, 2010
Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF).
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
Florence, Italy. In Jimd Rep, 2010
We also performed molecular analysis of FAH gene in both patients after diagnosis at newborn screening.
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.
Ankara, Turkey. In Jimd Rep, 2010
Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme.
Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc).
GeneRIF
Cincinnati, United States. In J Biol Chem, 2010
Cytoplasmic FANCA-FANCC complex was essential for NPMc stability.
High volume naked DNA tail-vein injection restores liver function in Fah-knock out mice.
GeneRIF
Regensburg, Germany. In J Gastroenterol Hepatol, 2010
Naked plasmid DNA transfection offers a promising alternative treatment for hereditary tyrosinemia type 1 caused by mutation of the fah gene.
Robust expansion of human hepatocytes in Fah-/-/Rag2-/-/Il2rg-/- mice.
Impact
Portland, United States. In Nat Biotechnol, 2007
To provide a broadly useful hepatic xenorepopulation system, we generated severely immunodeficient, fumarylacetoacetate hydrolase (Fah)-deficient mice.
BMP-4 is required for hepatic specification of mouse embryonic stem cell-derived definitive endoderm.
Impact
New York City, United States. In Nat Biotechnol, 2006
These cells also express transcripts of Afp, Alb1, Tat, Cps1, Cyp7a1 and Cyp3a11; they secrete albumin, store glycogen, show ultrastructural characteristics of mature hepatocytes, and are able to integrate into and proliferate in injured livers in vivo and mature into hepatocytes expressing dipeptidyl peptidase IV or fumarylacetoacetate hydrolase.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Impact
New York City, United States. In Nat Genet, 2005
Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci.
Myelomonocytic cells are sufficient for therapeutic cell fusion in liver.
Impact
Portland, United States. In Nat Med, 2004
Liver repopulation with bone marrow-derived hepatocytes (BMHs) can cure the genetic liver disease fumarylacetoacetate hydrolase (Fah) deficiency.
