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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.
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
Altered Circadian Food Anticipatory Activity Rhythms in PACAP Receptor 1 (PAC1) Deficient Mice.
New
Fahrenkrug et al., Copenhagen, Denmark. In Plos One, 31 Dec 2015
When nocturnal animals have access to food only for a few hours during the resting phase at daytime, they adapt behavior to the restricted feeding (RF) paradigm and show food anticipatory activity (FAA).
Morphometric analysis of inflammation in bronchial biopsies following exposure to inhaled diesel exhaust and allergen challenge in atopic subjects.
New
Carlsten et al., Vancouver, Canada. In Part Fibre Toxicol, 31 Dec 2015
The study design generated 4 different conditions: filtered air + saline (FAS), DE + saline (DES), filtered air + allergen (FAA) and DE + allergen (DEA).
Proteomic research on diapause-related proteins in the female ladybird, Coccinella septempunctata L.
New
Chen et al., Beijing, China. In Bull Entomol Res, 25 Dec 2015
By contrast, isocitrate dehydrogenase (RH49423p), fumarylacetoacetate hydrolase (AGAP001942-PA), and a putative medium chain acyl-CoA dehydrogenase were downregulated.
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
New
Shehzad et al., In J Pediatr Endocrinol Metab, 13 Dec 2015
HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene.
The Fanconi Anemia Pathway Protects Genome Integrity from R-loops.
New
Aguilera et al., Sevilla, Spain. In Plos Genet, Nov 2015
Using human and murine cells defective in FANCD2 or FANCA and primary bone marrow cells from FANCD2 deficient mice, we show that the FA pathway removes R loops, and that many DNA breaks accumulated in FA cells are R loop-dependent.
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
New
Savoia et al., Trieste, Italy. In Mol Genet Genomic Med, Nov 2015
Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time-consuming.
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Foretová et al., In Klin Onkol, 2014
Various pathogenic or potentially pathogenic (missense, predicted splice site, in-frame insertion/deletion) mutations were detected in ATM, BRIP1, CDH1, CHEK2, ERCC2, ERCC3, ERCC4, FANCA, MC1R, MEN1, MRE11A, MUTYH, PALB2, RAD51C, RET, SDHB, STK11.
Influences of dietary protein sources and crude protein levels on intracellular free amino acid profile in the longissimus dorsi muscle of finishing gilts.
Yin et al., Beijing, China. In J Anim Sci Biotechnol, 2014
Furthermore, the reduced protein diet played an important role in increasing muscle intracellular concentrations of specific free amino acids (FAA), and in reducing the relative ratios of specific FAA to lysine in longissimus dorsi muscle of pig, whose biological meaning needs further studies.
Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.
Li et al., Tianjin, China. In Genet Mol Res, 2014
We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05).
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.
Impact
Anderson et al., Cambridge, United States. In Nat Biotechnol, 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.
Impact
Hui et al., Shanghai, China. In Cell Stem Cell, 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.
Effects of Psychrotrophic Bacteria, Serratia liquefaciens and Acinetobacter genomospecies 10 on Yogurt Quality.
Nam et al., Ansan, South Korea. In Korean J Food Sci Anim Resour, 2013
Serratia liquefaciens (match %: 99.39) in yogurt caused a greater accumulation of free amino acids (FAA), especially bitter peptides such as leucine, valine, arginine, and tyrosine, but SDS-PAGE showed that the inoculation of Serratia liquefaciens did not affect the degree of casein degradation during storage.
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).
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.
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.
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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