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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 27 Aug 2015.

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.
Supplier
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.
Supplier
Bergh Kåre et al., In Acta Orthopaedica, 2003
... , FAA agar (Merck) was incubated in an ...
Papers on FAA
Food reward without a timing component does not alter the timing of activity under positive energy balance.
New
Hut et al., Groningen, Netherlands. In Neuroscience, 24 Oct 2015
Such plasticity is seen when food access is restricted to a few hours during the resting (light) phase resulting in food anticipatory activity (FAA) in the hours preceding food availability.
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
New
Goetz et al., Rochester, United States. In Breast Cancer Res Treat, 22 Sep 2015
Twenty-eight deleterious variants were identified in 26/124 (21.0 %) patients in the following genes: ATM (n = 3), BLM (n = 1), BRCA1 (n = 4), BRCA2 (n = 8), CHEK2 (n = 2), FANCA (n = 1), FANCI (n = 1), FANCL (n = 1), FANCM (n = 1), FH (n = 1), MLH3 (n = 1), MUTYH (n = 2), PALB2 (n = 1), and WRN (n = 1).
Fanconi Anemia Mesenchymal Stromal Cells-Derived Glycerophospholipids Skew Hematopoietic Stem Cell Differentiation Through Toll-Like Receptor Signaling.
New
Pang et al., Cincinnati, United States. In Stem Cells, 24 Aug 2015
We provided two pieces of evidence that TOFA could improve hematopoiesis-supporting function of FA MSCs: (a) limiting-dilution cobblestone area-forming cell assay revealed that TOFA significantly increased cobblestone colonies in Fanca-/- or Fancd2-/- cocultures compared to untreated cocultures.
Cultivating the uncultured: growing the recalcitrant cluster-2 Frankia strains.
New
Boudabous et al., Tunisia. In Sci Rep, Dec 2014
Analysis of the draft genome confirmed its close proximity to the Candidatus Frankia datiscae Dg1 genome with the absence of 38 genes (trehalose synthase, fumarylacetoacetase, etc) in BMG5.1 and the presence of 77 other genes (CRISPR, lanthionine synthase, glutathione synthetase, catalase, Na+/H+ antiporter, etc) not found in Dg1.
FAH Domain Containing Protein 1 (FAHD-1) Is Required for Mitochondrial Function and Locomotion Activity in C. elegans.
New
Jansen-Dürr et al., Innsbruck, Austria. In Plos One, Dec 2014
The fumarylacetoacetate hydrolase (FAH) protein superfamily of metabolic enzymes comprises a diverse set of enzymatic functions, including ß-diketone hydrolases, decarboxylases, and isomerases.
Fanconi anemia and the development of leukemia.
Review
New
Alter, Bethesda, United States. In Best Pract Res Clin Haematol, Sep 2014
Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway.
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.
New
Impact
Anderson et al., Cambridge, United States. In Nat Biotechnol, Jun 2014
We demonstrate CRISPR-Cas9-mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary tyrosinemia.
Direct reprogramming of human fibroblasts to functional and expandable hepatocytes.
New
Impact
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.
Impact
Real et al., Madrid, Spain. In Nat Genet, 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 Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.
Review
Deans et al., Dundee, United Kingdom. In Annu Rev Biophys, 2013
Mutations in any of at least sixteen FANC genes (FANCA-Q) cause Fanconi anemia, a disorder characterized by sensitivity to DNA interstrand crosslinking agents.
Amino acid profiles in term and preterm human milk through lactation: a systematic review.
Review
Lőnnerdal et al., Urbana, United States. In Nutrients, 2013
We report a systematic review of total amino acid (TAA) and free amino acid (FAA) profiles, in term and preterm HM derived from 13 and 19 countries, respectively.
Reprogramming fibroblasts into bipotential hepatic stem cells by defined factors.
Impact
Hu et al., Shanghai, China. In Cell Stem Cell, 2013
In the injured liver of fumarylacetoacetate hydrolase (Fah)-deficient mice, repopulating iHepSCs become hepatocyte-like cells.
Hereditary breast and ovarian cancer susceptibility genes (review).
Review
Matsuura et al., Kashihara, Japan. In Oncol Rep, 2013
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
In vitro expansion of single Lgr5+ liver stem cells induced by Wnt-driven regeneration.
Impact
Clevers et al., Utrecht, Netherlands. In Nature, 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.
Review
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.
GeneRIF
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.
Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
GeneRIF
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.
GeneRIF
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
Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
GeneRIF
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.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
GeneRIF
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.
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