FANCA

Summary

Gene Symbol: FANCA
Description: Fanconi anemia complementation group A
Alias: FA-H, FA1, FAA, FACA, FAH, FANCH, Fanconi anemia group A protein, Fanconi anemia, complementation group H, Fanconi anemia, type 1
Species: human
Products:     FANCA

Top Publications

  1. Meetei A, Sechi S, Wallisch M, Yang D, Young M, Joenje H, et al. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol. 2003;23:3417-26 pubmed
    ..The findings that FA proteins are part of a DNA-unwinding complex imply that FA proteins may participate in DNA repair. ..
  2. Lo ten Foe J, Rooimans M, Bosnoyan Collins L, Alon N, Wijker M, Parker L, et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet. 1996;14:320-3 pubmed
    ..3 (ref.8). Genetic map positions were recently reported for two more FA genes, FAA (16q24.3) and FAD (3p22-26)...
  3. Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki M. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. J Hum Genet. 2000;45:159-66 pubmed
    ..Previously, we studied mutations of the FANCA gene, responsible for FA-A, and found pathogenic mutations in 12 of 15 unclassified Japanese FA patients...
  4. Qiao F, Moss A, Kupfer G. Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner. J Biol Chem. 2001;276:23391-6 pubmed
    ..The FancA (Fanconi anemia complementation group A), FancC, and FancG proteins have been detected within a nuclear complex, ..
  5. Hanenberg H, Batish S, Pollok K, Vieten L, Verlander P, Leurs C, et al. Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Exp Hematol. 2002;30:410-20 pubmed
    ..this test, primary peripheral blood-derived FA T cells were transduced with oncoretroviral vectors that expressed FANCA, FANCC, or FANCG cDNA...
  6. Adachi D, Oda T, Yagasaki H, Nakasato K, Taniguchi T, D Andrea A, et al. Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. Hum Mol Genet. 2002;11:3125-34 pubmed
    ..is growing evidence for a model of the FA pathway, wherein a nuclear multiprotein complex of five FA proteins (FANCA, C, E, F and G) regulates activation of FANCD2 into a monoubiquitinated form, which, collaborating with the BRCA1 ..
  7. Meetei A, de Winter J, Medhurst A, Wallisch M, Waisfisz Q, van de Vrugt H, et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet. 2003;35:165-70 pubmed
    ..Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. ..
  8. Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei A, et al. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007;25:331-43 pubmed
    ..Our data indicate that the FANCM/FAAP24 complex may play a key role in recruitment of the FA core complex to damaged DNA. ..
  9. Kim J, Kee Y, Gurtan A, D Andrea A. Cell cycle-dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24. Blood. 2008;111:5215-22 pubmed publisher
    ..Dysregulated loading of the FA core complex accounts, at least in part, for the characteristic cellular and developmental abnormalities in FA. ..

More Information

Publications129 found, 100 shown here

  1. Collins N, Wilson J, Bush T, Thomashevski A, Roberts K, Jones N, et al. ATR-dependent phosphorylation of FANCA on serine 1449 after DNA damage is important for FA pathway function. Blood. 2009;113:2181-90 pubmed publisher
    ..b>FANCA is phosphorylated after DNA damage and localized to chromatin, but the site and significance of this ..
  2. Geng L, Huntoon C, Karnitz L. RAD18-mediated ubiquitination of PCNA activates the Fanconi anemia DNA repair network. J Cell Biol. 2010;191:249-57 pubmed publisher
    ..Collectively, these experiments identify RAD18-mediated PCNA monoubiquitination as a central hub for the mobilization of the FA pathway by promoting FANCL-mediated FANCD2 monoubiquitylation. ..
  3. Yuan F, Qian L, Zhao X, Liu J, Song L, D URSO G, et al. Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. J Biol Chem. 2012;287:4800-7 pubmed publisher
    The Fanconi anemia complementation group A (FANCA) gene is one of 15 disease-causing genes and has been found to be mutated in ?60% of Fanconi anemia patients...
  4. Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, et al. Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex. Hum Mol Genet. 2001;10:2651-60 pubmed
    ..We identified an interaction between the FA protein, FANCA and brm-related gene 1 (BRG1) product...
  5. Meetei A, Medhurst A, Ling C, Xue Y, Singh T, Bier P, et al. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. Nat Genet. 2005;37:958-63 pubmed
    ..Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA. ..
  6. Yabe M, Koike T, Ohtsubo K, Imai E, Morimoto T, Takakura H, et al. Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia. Ann Hematol. 2019;98:271-280 pubmed publisher
    ..The major mutated FA genes observed in this study were FANCA (n = 52) and FANCG (n = 23)...
  7. Spinella J, Healy J, Saillour V, Richer C, Cassart P, Ouimet M, et al. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. BMC Cancer. 2015;15:539 pubmed publisher
    ..of rare variants in Fanconi anemia (FA) genes FANCP/SLX4 (compound heterozygote - rs137976282/rs79842542) and FANCA (rs61753269) and a rare homozygous variant in the Holliday junction resolvase GEN1 (rs16981869)...
  8. Guan J, Fransson S, Siaw J, Treis D, Van den Eynden J, Chand D, et al. Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib. Cold Spring Harb Mol Case Stud. 2018;: pubmed publisher
    ..Genomic analysis of the initial biopsy identified germ-line FANCA mutations as well as a novel ALK-I1171T variant...
  9. Cagnan I, Cosgun E, Konu O, Uckan D, Gunel Ozcan A. PKNOX2 expression and regulation in the bone marrow mesenchymal stem cells of Fanconi anemia patients and healthy donors. Mol Biol Rep. 2019;46:669-678 pubmed publisher
    ..DEB), a DNA crosslinking agent, in either donor or FA cells except one patient's with a truncation mutation of FANCA. A difference of PKNOX2 protein level was not obtained between FA patient and donor BM-MSCs by western blot ..
  10. Song L. A possible approach for stem cell gene therapy of Fanconi anemia. Curr Gene Ther. 2009;9:26-32 pubmed
    ..13 complementation groups are currently discovered, and 13 distinct genes have been cloned (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FNACI, FANCJ, FANCL, FANCM, FANCN)...
  11. Molina Estevez F, Nowrouzi A, Lozano M, Galy A, Charrier S, von Kalle C, et al. Lentiviral-Mediated Gene Therapy in Fanconi Anemia-A Mice Reveals Long-Term Engraftment and Continuous Turnover of Corrected HSCs. Curr Gene Ther. 2015;15:550-62 pubmed
    ..anemia, we have carried out a genome-wide screening of lentiviral insertion sites after the gene correction of Fanca(-/-) hematopoietic stem cells (HSCs), using LAM-PCR and 454-pyrosequencing...
  12. Palle K, Vaziri C. Rad18 E3 ubiquitin ligase activity mediates Fanconi anemia pathway activation and cell survival following DNA Topoisomerase 1 inhibition. Cell Cycle. 2011;10:1625-38 pubmed
    ..We show here that the FA core complex protein FANCA and monoubiquitinated FANCD2 (an effector of the FA pathway) are rapidly mobilized to chromatin in response to CPT ..
  13. Solomon P, Margaret P, Rajendran R, Ramalingam R, Menezes G, Shirley A, et al. A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. Ital J Pediatr. 2015;41:38 pubmed publisher
    ..To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%...
  14. Cagnan I, Gunel Ozcan A, Aerts Kaya F, Ameziane N, Kuskonmaz B, Dorsman J, et al. Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production. Stem Cell Rev. 2018;14:425-437 pubmed publisher
    ..In ten FA patients, mutations were detected in FANCA (n = 7), FANCG (n = 1) and FANCD2 (n = 2) genes...
  15. Alter B. Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol. 2014;27:214-21 pubmed publisher
    ..Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (..
  16. Svahn J, Lanza T, Rathbun K, Bagby G, Ravera S, Corsolini F, et al. p38 Mitogen-activated protein kinase inhibition enhances in vitro erythropoiesis of Fanconi anemia, complementation group A-deficient bone marrow cells. Exp Hematol. 2015;43:295-9 pubmed publisher
    ..of p38 MAPK also reduces TLR4 and 7/8-mediated TNF-α production in primary human FA complementation group A (FANCA)-deficient monocytes from nine patients and demonstrate that, while p38 MAPK inhibition also enhances clonal ..
  17. Kramer D, Stark N, Schulz Heddergott R, Erytch N, Edmunds S, Roßmann L, et al. Strong antitumor synergy between DNA crosslinking and HSP90 inhibition causes massive premitotic DNA fragmentation in ovarian cancer cells. Cell Death Differ. 2017;24:300-316 pubmed publisher
    ..Overexpressing FancA rescued the DNA damage induced by the drug combination, indicating that FancA is indeed a key client of Hsp90 that ..
  18. Kang H, Chie E, Kim H, Kim J, Kim I, Kim K, et al. A phthalimidoalkanamide derived novel DNMT inhibitor enhanced radiosensitivity of A549 cells by inhibition of homologous recombination of DNA damage. Invest New Drugs. 2019;: pubmed publisher
    ..We found that MA-17 also down-regulated DNA homologous recombination and the Fanconi anemia pathway (FANCA, BRCA1, and RAD51C) in A549 cells...
  19. Chesner L, Degner A, Sangaraju D, Yomtoubian S, Wickramaratne S, Malayappan B, et al. Cellular Repair of DNA-DNA Cross-Links Induced by 1,2,3,4-Diepoxybutane. Int J Mol Sci. 2017;18: pubmed publisher
    ..lung fibroblasts (V79) and the corresponding isogenic clones V-H1 and V-H4, deficient in the XPD and FANCA genes, respectively...
  20. Li N, Ding L, Li B, Wang J, D Andrea A, Chen J. Functional analysis of Fanconi anemia mutations in China. Exp Hematol. 2018;66:32-41.e8 pubmed publisher
    ..Three missense variants (FANCA-L424V, FANCC-E273K, and FANCG-A153G) were harmless...
  21. Yap E, Norziha Z, Simbun A, Tumian N, Cheong S, Leong C, et al. MicroRNAs that affect the Fanconi Anemia/BRCA pathway are downregulated in imatinib-resistant chronic myeloid leukemia patients without detectable BCR-ABL kinase domain mutations. Leuk Res. 2017;59:32-40 pubmed publisher
    ..In-silico analysis showed that the predicted gene targets are ATRIP, ATR, WDR48, RAD51C and FANCA genes which are involved in the Fanconi Anemia/BRCA pathway...
  22. Niraj J, Caron M, Drapeau K, Bérubé S, Guitton Sert L, Coulombe Y, et al. The identification of FANCD2 DNA binding domains reveals nuclear localization sequences. Nucleic Acids Res. 2017;45:8341-8357 pubmed publisher
    ..The FA pathway consists of at least 21 FANC genes (FANCA-FANCV), and the encoded protein products interact in a common cellular pathway to gain resistance against DNA ..
  23. Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d Enghien C, et al. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet Med. 2018;20:458-463 pubmed publisher
    ..A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene...
  24. Oberbeck N, Langevin F, King G, de Wind N, Crossan G, Patel K. Maternal aldehyde elimination during pregnancy preserves the fetal genome. Mol Cell. 2014;55:807-817 pubmed publisher
    ..reactive aldehydes, cannot support the development of embryos lacking the Fanconi anemia DNA repair pathway gene Fanca. Remarkably, transferring Aldh2(-/-)Fanca(-/-) embryos into wild-type mothers suppresses developmental defects and ..
  25. Chun M, Choi H, Jun D, Kim S, Kim Y, Kim S, et al. Fanconi anemia protein FANCD2 is activated by AICAR, a modulator of AMPK and cellular energy metabolism. FEBS Open Bio. 2017;7:284-292 pubmed publisher
    ..Similarly, FANCA protein, which is a component of the FA core complex monoubiquitinating FANCD2, was required for this event...
  26. Epanchintsev A, Shyamsunder P, Verma R, Lyakhovich A. IL-6, IL-8, MMP-2, MMP-9 are overexpressed in Fanconi anemia cells through a NF-κB/TNF-α dependent mechanism. Mol Carcinog. 2015;54:1686-99 pubmed publisher
    ..of additional secretory factors such as IL-6, IL-8, MMP-2, and MMP-9 in FA cells and in cells depleted of FANCA or FANCC and proved that their expression is under the control of NF-κB/TNF-α signaling pathways...
  27. Amarachintha S, Sertorio M, Wilson A, Li X, Pang Q. Fanconi Anemia Mesenchymal Stromal Cells-Derived Glycerophospholipids Skew Hematopoietic Stem Cell Differentiation Through Toll-Like Receptor Signaling. Stem Cells. 2015;33:3382-96 pubmed publisher
    ..cobblestone area-forming cell assay revealed that TOFA significantly increased cobblestone colonies in Fanca-/- or Fancd2-/- cocultures compared to untreated cocultures...
  28. Sekinaka Y, Mitsuiki N, Imai K, Yabe M, Yabe H, Mitsui Sekinaka K, et al. Common Variable Immunodeficiency Caused by FANC Mutations. J Clin Immunol. 2017;37:434-444 pubmed publisher
    ..Using WES, we identified compound heterozygous mutations of FANCE in one patient and homozygous mutation of FANCA in another patient...
  29. Chang L, Ren R, Yang W, Zhang J, Wan Y, Liu T, et al. [Association between clinical outcome and gene mutation in children with Fanconi anemia]. Zhongguo Dang Dai Er Ke Za Zhi. 2016;18:742-5 pubmed
    ..Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations...
  30. Yao X, Wang X, Liu J, Shi L, Huang P, Yang H. CRISPR/Cas9-mediated Targeted Integration In Vivo Using a Homology-mediated End Joining-based Strategy. J Vis Exp. 2018;: pubmed publisher
    ..Moreover, a HMEJ-based strategy offers an efficient approach for correction of fumarylacetoacetate hydrolase (Fah) mutation in the hepatocytes and rescues Fah-deficiency induced liver failure mice...
  31. Suhasini A, Rawtani N, Wu Y, Sommers J, Sharma S, Mosedale G, et al. Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome. EMBO J. 2011;30:692-705 pubmed publisher
    ..Collectively, the results suggest that FANCJ catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress. ..
  32. Arns M, Bruder G, Hegerl U, Spooner C, Palmer D, Etkin A, et al. EEG alpha asymmetry as a gender-specific predictor of outcome to acute treatment with different antidepressant medications in the randomized iSPOT-D study. Clin Neurophysiol. 2016;127:509-519 pubmed publisher
    To determine whether EEG occipital alpha and frontal alpha asymmetry (FAA) distinguishes outpatients with major depression (MDD) from controls, predicts antidepressant treatment outcome, and to explore the role of gender...
  33. Magron A, Elowe S, Carreau M. The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation. PLoS ONE. 2015;10:e0140612 pubmed publisher
    ..Phosphorylation of STMN1 at serine 16 is likely an event dependent on a functional FA pathway, as it is reduced in FANCA- and FANCD2-mutant cells...
  34. Alves Ferreira Bravo I, Cozens C, Holliger P, Destefano J. Selection of 2'-deoxy-2'-fluoroarabinonucleotide (FANA) aptamers that bind HIV-1 reverse transcriptase with picomolar affinity. Nucleic Acids Res. 2015;43:9587-99 pubmed publisher
    ..of selecting xeno-nucleic acid (XNA) aptamers, a 2'-deoxy-2'-fluoroarabinonucleotide (FANA) aptamer (referred to as FA1) to HIV-1 reverse transcriptase (HIV-1 RT) was selected...
  35. Hosseini A, Hirota J, Hackett T, McNagny K, Wilson S, Carlsten C. Morphometric analysis of inflammation in bronchial biopsies following exposure to inhaled diesel exhaust and allergen challenge in atopic subjects. Part Fibre Toxicol. 2016;13:2 pubmed publisher
    ..filtered air + saline (FAS), DE + saline (DES), filtered air + allergen (FAA) and DE + allergen (DEA)...
  36. Keel S, Scott A, Sanchez Bonilla M, Ho P, Gulsuner S, Pritchard C, et al. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. 2016;101:1343-1350 pubmed
    ..Pathological mutations were present in DKC1, MPL, and TP53 among the aplastic anemia cohort, and in FANCA, GATA2, MPL, RTEL1, RUNX1, SBDS, TERT, TINF2, and TP53 among the myelodysplastic syndrome cohort...
  37. de Luca A, Hankard R, Alexandre Gouabau M, Ferchaud Roucher V, Darmaun D, Boquien C. Higher concentrations of branched-chain amino acids in breast milk of obese mothers. Nutrition. 2016;32:1295-8 pubmed publisher
    ..Breast milk samples were collected at the end of the first month of lactation. Free amino acid (FAA) concentrations in breast milk were determined by ultra-performance liquid chromatography tandem mass spectrometry...
  38. Luna Illades C, Morales T, Miranda Anaya M. Decreased food anticipatory activity of obese mice relates to hypothalamic c-Fos expression. Physiol Behav. 2017;179:9-15 pubmed publisher
    During daily Food Restriction (FR), obese Neotomodon alstoni mice present decreased Food Anticipatory Activity (FAA) compared to lean mice...
  39. McMahon L, Walsh C, Lambert M. Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. J Biol Chem. 1999;274:32904-8 pubmed
    ..The FANCA gene appears to play a role in the stability or expression of this protein...
  40. García Gallastegui P, Luzuriaga J, Aurrekoetxea M, Baladrón V, Ruiz Hidalgo M, García Ramírez J, et al. Reduced salivary gland size and increased presence of epithelial progenitor cells in DLK1-deficient mice. Cell Tissue Res. 2016;364:513-25 pubmed publisher
    DLK1 (PREF1, pG2, or FA1) is a transmembrane and secreted protein containing epidermal growth factor-like repeats...
  41. Yin H, Song C, Dorkin J, Zhu L, Li Y, Wu Q, et al. Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo. Nat Biotechnol. 2016;34:328-33 pubmed publisher
    ..a mouse model of human hereditary tyrosinemia and show that the treatment generated fumarylacetoacetate hydrolase (Fah)-positive hepatocytes by correcting the causative Fah-splicing mutation...
  42. Maurya M, Sarkar B, Avecilla F, Correia I. Vanadium(iv and v) complexes of pyrazolone based ligands: Synthesis, structural characterization and catalytic applications. Dalton Trans. 2016;45:17343-17364 pubmed
    ..Hbp) with benzoylhydrazide (H2bp-bhz I), furoylhydrazide (H2bp-fah II), nicotinoylhydrazide (H2bp-nah III) and isonicotinoylhydrazide (H2bp-inh IV), upon ..
  43. Mills W, DeJohn C, Alaziz M. The U.S. Experience with Waivers for Insulin-Treated Pilots. Aerosp Med Hum Perform. 2017;88:34-41 pubmed publisher
    ..From 1997 through 2014, the Federal Aviation Administration (FAA) approved an estimated 1500 waivers for insulin-treated diabetes with a total of 450 active waivers as of December ..
  44. Boyd D. In-Flight Decision-Making by General Aviation Pilots Operating in Areas of Extreme Thunderstorms. Aerosp Med Hum Perform. 2017;88:1066-1072 pubmed publisher
    ..over the last two decades; and 2) assess in-flight (enroute/landing) airman decision-making regarding adherence to FAA separation minima from thunderstorms. Thunderstorm-related accidents were identified from the NTSB database...
  45. Otsuki T, Nagashima T, Komatsu N, Kirito K, Furukawa Y, Kobayashi Si S, et al. Phosphorylation of Fanconi anemia protein, FANCA, is regulated by Akt kinase. Biochem Biophys Res Commun. 2002;291:628-34 pubmed
    Phosphorylation of the Fanconi anemia complementation group A (FANCA) protein is thought to be important for the function of the FA pathway. However, the kinase for FANCA (so-called FANCA-PK) remains to be identified...
  46. Tremblay C, Huang F, Habi O, Huard C, Godin C, Levesque G, et al. HES1 is a novel interactor of the Fanconi anemia core complex. Blood. 2008;112:2062-70 pubmed publisher
    ..HES1 is also required for proper nuclear localization or stability of some members of the core complex. Our results suggest that HES1 is a novel interacting protein of the FA core complex. ..
  47. Navarro Guillén C, Yúfera M, Engrola S. Ghrelin in Senegalese sole (Solea senegalensis) post-larvae: Paracrine effects on food intake. Comp Biochem Physiol A Mol Integr Physiol. 2017;204:85-92 pubmed publisher
    ..Furthermore, the present study gives insight for the first time of the fate of the retained amino acids, being mainly used for protein accretion (86.79% of retained amino acids recovered in protein and FAA fractions).
  48. Savage E, Fairbanks R, Ratwani R. Are informed policies in place to promote safe and usable EHRs? A cross-industry comparison. J Am Med Inform Assoc. 2017;24:769-775 pubmed publisher
    ..compliance to those policies, across 3 federal agencies: the ONC and EHRs, the Federal Aviation Administration (FAA) and avionics, and the Food and Drug Administration (FDA) and medical devices...
  49. Zevitas C, Spengler J, Jones B, McNeely E, Coull B, Cao X, et al. Assessment of noise in the airplane cabin environment. J Expo Sci Environ Epidemiol. 2018;28:568-578 pubmed publisher
    ..b>FAA should consider applying the more health-protective NIOSH/ACGIH occupational noise recommendations to the aircraft ..
  50. Mi J, Qiao F, Wilson J, High A, Schroeder M, Stukenberg P, et al. FANCG is phosphorylated at serines 383 and 387 during mitosis. Mol Cell Biol. 2004;24:8576-85 pubmed
    ..S387A mutant abolished FANCG fusion protein phosphorylation by cdc2. The FA pathway, of which FANCG is a part, is highly regulated by a series of phosphorylation steps that are important to its overall function. ..
  51. Rogers C, Couch F, Brune K, Martin S, Philips J, Murphy K, et al. Genetics of the FANCA gene in familial pancreatic cancer. J Med Genet. 2004;41:e126 pubmed
  52. Cornelis M, Monda K, Yu K, Paynter N, Azzato E, Bennett S, et al. Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. PLoS Genet. 2011;7:e1002033 pubmed publisher
    ..4 × 10(-19)), near AHR, and 15q24 (P = 5.2 × 10(-14)), between CYP1A1 and CYP1A2. Both the AHR and CYP1A2 genes are biologically plausible candidates as CYP1A2 metabolizes caffeine and AHR regulates CYP1A2. ..
  53. Karras G, Yi S, Sahni N, Fischer M, Xie J, Vidal M, et al. HSP90 Shapes the Consequences of Human Genetic Variation. Cell. 2017;168:856-866.e12 pubmed publisher
    ..Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function...
  54. Moore M, Koenig A, Hillgartner M, Otap C, Barnby E, MacGregor G. Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. Metab Brain Dis. 2017;32:1829-1841 pubmed publisher
    Hereditary tyrosinemia type I (HT1) is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, the template for the final enzyme in the tyrosine catabolism pathway...
  55. Necchi A, Eigl B, YANG E, Bae S, Chandrashekar D, Chen D, et al. Gene Expression Profiling of Advanced Penile Squamous Cell Carcinoma Receiving Cisplatin-based Chemotherapy Improves Prognostication and Identifies Potential Therapeutic Targets. Eur Urol Focus. 2018;4:733-736 pubmed publisher
    ..004), KITLG (p≤0.0001), and JAK1 (p=0.029) genes were associated with poor OS, and upregulated FANCA was associated with better OS (p=0.024). In stepwise multivariate analyses, VM (hazard ratio=12.75, p=0...
  56. Hillgartner M, Coker S, Koenig A, Moore M, Barnby E, MacGregor G. Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. J Inherit Metab Dis. 2016;39:673-682 pubmed publisher
    ..type I is a recessive inborn error of metabolism caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, coding for the final enzyme in the metabolism of tyrosine...
  57. Jang S, Jung J, Kim J. Replication Protein A (RPA) deficiency activates the Fanconi anemia DNA repair pathway. Cell Cycle. 2016;15:2336-45 pubmed publisher
    ..Taken together, these results indicate that RPA deficiency induces activation of the FA pathway in an ATR-dependent manner, which may play a role in the genome maintenance. ..
  58. Chun M, Kim S, Hwang S, Kim B, Kim H, Choi H, et al. AMP-activated protein kinase is involved in the activation of the Fanconi anemia/BRCA pathway in response to DNA interstrand crosslinks. Oncotarget. 2016;7:53642-53653 pubmed publisher
    ..Additionally, we showed that AMPK? interacted with FANCA, another component of the FA nuclear core complex...
  59. Endig J, Buitrago Molina L, Marhenke S, Reisinger F, Saborowski A, Schütt J, et al. Dual Role of the Adaptive Immune System in Liver Injury and Hepatocellular Carcinoma Development. Cancer Cell. 2016;30:308-323 pubmed publisher
    ..studied the extent of liver disease and hepatocarcinogenesis in immunocompromised versus immunocompetent Fah-deficient mice...
  60. Maksimova N, Gurinova E, Sukhomyasova A, Danilova A, Kaimonov V, Savvina M, et al. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report. Wiad Lek. 2016;69:295-8 pubmed
    ..HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective ...
  61. Simonetti S, Compañy A, Brizuela G, Juan A. ?-Cristobalite (001) surface as 4-formaminoantipyrine adsorbent: First principle study of the effect on adsorption of surface modification. Colloids Surf B Biointerfaces. 2016;148:287-292 pubmed publisher
    ..The role of surface modification on the features of 4-formaminoantipyrine (FAA) adsorbed on ?-cristobalite (001) surface is studied by means of simulations based on the Density Functional Theory ..
  62. Futatsugi A, Toshimoto K, Yoshikado T, Sugiyama Y, Kato Y. Evaluation of Alteration in Hepatic and Intestinal BCRP Function In Vivo from ABCG2 c.421C>A Polymorphism Based on PBPK Analysis of Rosuvastatin. Drug Metab Dispos. 2018;46:749-757 pubmed publisher
    ..48-0.54. Thus, PBPK model analysis enabled quantitative evaluation of alteration in BCRP activity owing to c.421C>A, and BCRP activity in 421AA was estimated as half that in 421CC. ..
  63. Wong J, Alon N, Norga K, Kruyt F, Youssoufian H, Buchwald M. Cloning and analysis of the mouse Fanconi anemia group A cDNA and an overlapping penta zinc finger cDNA. Genomics. 2000;67:273-83 pubmed
    ..group A using the mouse as a model system, we cloned and characterized the mouse homolog of the human FANCA cDNA...
  64. van de Vrugt H, Koomen M, Berns M, de Vries Y, Rooimans M, van der Weel L, et al. Characterization, expression and complex formation of the murine Fanconi anaemia gene product Fancg. Genes Cells. 2002;7:333-42 pubmed
    ..At mRNA and protein levels we detected the co-expression of Fancg and Fanca in murine tissues. In addition, mouse Fancg and Fanca proteins co-purify by immunoprecipitation...
  65. Blom E, van de Vrugt H, de Vries Y, de Winter J, Arwert F, Joenje H. Multiple TPR motifs characterize the Fanconi anemia FANCG protein. DNA Repair (Amst). 2004;3:77-84 pubmed
    ..of FANCD2, which critically depends on a multi-subunit nuclear 'core complex' of at least six FANC proteins (FANCA, -C, -E, -F, -G, and -L)...
  66. Yamamoto K, Nihrane A, Aglipay J, Sironi J, ARKIN S, Lipton J, et al. Upregulated ATM gene expression and activated DNA crosslink-induced damage response checkpoint in Fanconi anemia: implications for carcinogenesis. Mol Med. 2008;14:167-74 pubmed publisher
    ..In primary fibroblasts with mutations in the core complex FANCA protein, we discovered that basal expression and phosphorylation of ATM (ataxia telangiectasia mutated) and p53 ..
  67. Holmstrup M, Slotsbo S, Henriksen P, Bayley M. Earthworms accumulate alanine in response to drought. Comp Biochem Physiol A Mol Integr Physiol. 2016;199:8-13 pubmed publisher
    ..Alanine was the most important FAA reaching 250-650μmolg(-1) dry weight in dehydrated Aporrectodea species and 300μmolg(-1) dry weight in L...
  68. VanLith C, Guthman R, Nicolas C, Allen K, Du Z, Joo D, et al. Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1. Hum Gene Ther. 2018;29:1315-1326 pubmed publisher
    ..tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetate hydrolase (FAH)...
  69. Vaanholt L, Mitchell S, Sinclair R, Speakman J. Mice that are resistant to diet-induced weight loss have greater food anticipatory activity and altered melanocortin-3 receptor (MC3R) and dopamine receptor 2 (D2) gene expression. Horm Behav. 2015;73:83-93 pubmed publisher
    ..HWL mice showed a stronger increase in food anticipatory activity (FAA) in response to CR than LWL mice...
  70. Gu J, Yao M, Yang J, Cai Y, Zheng W, Wang L, et al. Mitochondrial carnitine palmitoyl transferase-II inactivity aggravates lipid accumulation in rat hepatocarcinogenesis. World J Gastroenterol. 2017;23:256-264 pubmed publisher
    ..Sprague-Dawley male rats were fed with normal, high fat (HF), and HF containing 2-fluorenylacetamide (2-FAA) diet, respectively...
  71. Halac U, Dubois J, Mitchell G. The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec. Adv Exp Med Biol. 2017;959:75-83 pubmed publisher
    HT1 is a severe autosomal recessive disorder due to the deficiency of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine...
  72. Yu Y, Hu H, Chen J, Hu F, Fowler J, Scheet P, et al. Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochim Biophys Acta Mol Basis Dis. 2018;1864:2247-2254 pubmed publisher
    ..0165) BRCA2 (p = .0206), and MTAP (p = .0393). We also observed a suggestive association for FANCA (p = .002), a gene previously implicated in melanoma survival...
  73. Joenje H, Oostra A, Wijker M, di Summa F, van Berkel C, Rooimans M, et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet. 1997;61:940-4 pubmed
    ..Complementation groups in FA are likely to represent distinct disease genes, two of which (FAC and FAA) have been cloned...
  74. Ren J, Youssoufian H. Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. Mol Genet Metab. 2001;72:54-60 pubmed
    ..defective in FA cells are not completely understood, a clue to the function of the FA group A gene product (FANCA) was provided by the detection of limited homology in the amino terminal region to a class of heme peroxidases...
  75. Park J, Chung N, Chae H, Kim M, Lee S, Kim Y, et al. FANCA and FANCG are the major Fanconi anemia genes in the Korean population. Clin Genet. 2013;84:271-5 pubmed publisher
    ..This study evaluated the genetic alterations in three major Fanconi genes (FANCA, FANCC, and FANCG) in 30 FA patients using multiplex ligation-dependent probe amplification and direct sequencing...
  76. Ianzano L, D Apolito M, Centra M, Savino M, Levran O, Auerbach A, et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics. 1997;41:309-14 pubmed
    ..FA) is a genetically heterogenous disease involving at least five genes on the basis of complementation analysis (FAA to FAE). The FAA gene has been recently isolated by two independent approaches, positional and functional cloning...
  77. Reuter T, Herterich S, Bernhard O, Hoehn H, Gross H. Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system. Blood. 2000;95:719-20 pubmed
    Three of at least 8 Fanconi anemia (FA) genes have been cloned (FANCA, FANCC, FANCG), but their functions remain unknown...
  78. Nakanishi K, Moran A, Hays T, Kuang Y, Fox E, Garneau D, et al. Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9. Exp Hematol. 2001;29:842-9 pubmed
    ..of the FANCG protein appears to be required for complementation of FA-G cells and for normal assembly of the FANCA/FANCG/FANCC protein complex...
  79. Pace P, Johnson M, Tan W, Mosedale G, Sng C, Hoatlin M, et al. FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J. 2002;21:3414-23 pubmed
    ..Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage. ..
  80. Le Saux O, Beck K, Sachsinger C, Treiber C, Goring H, Curry K, et al. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002;111:331-8 pubmed
    ..Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population. ..
  81. Sridharan D, Brown M, Lambert W, McMahon L, Lambert M. Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. J Cell Sci. 2003;116:823-35 pubmed
    ..human cells with the DNA interstrand cross-linking agent 8-methoxypsoralen plus ultraviolet A (UVA) light and that FANCA and the known DNA repair protein XPF localize to the same nuclear foci...
  82. Mi J, Kupfer G. The Fanconi anemia core complex associates with chromatin during S phase. Blood. 2005;105:759-66 pubmed
    ..The FA proteins FANCA, FANCC, FANCE, FANCF, FANCG, and FANCL participate in a core complex...
  83. Medhurst A, Laghmani E, Steltenpool J, Ferrer M, Fontaine C, de Groot J, et al. Evidence for subcomplexes in the Fanconi anemia pathway. Blood. 2006;108:2072-80 pubmed
    ..We demonstrate a direct interaction between FANCB and FANCL and that a complex of these proteins binds FANCA. The interaction between FANCA and FANCL is dependent on FANCB, FANCG, and FANCM, but independent of FANCC, FANCE, ..
  84. Qian L, Yuan F, Rodriguez Tello P, Padgaonkar S, Zhang Y. Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. PLoS ONE. 2013;8:e82666 pubmed publisher
    ..Here we report that fanconi anemia complementation group A protein (FANCA), a protein that recognizes 5' flap structures and is involved in DNA repair and maintenance of replication forks, ..
  85. Huang Y, Leung J, Lowery M, Matsushita N, Wang Y, Shen X, et al. Modularized functions of the Fanconi anemia core complex. Cell Rep. 2014;7:1849-57 pubmed publisher
    ..module consisting of FANCL, FANCB, and FAAP100 is absolutely required for the E3 ligase function, and the FANCA-FANCG-FAAP20 and the FANCC-FANCE-FANCF modules provide nonredundant and ancillary functions that help the ..
  86. van Twest S, Murphy V, Hodson C, Tan W, Swuec P, O Rourke J, et al. Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. Mol Cell. 2017;65:247-259 pubmed publisher
    ..b>FANCA and FANCG are dispensable for maximal in vitro ubiquitination...
  87. Tejima K, Ishiai M, Murayama S, Iwatani S, Kajiwara S. Candida albicans fatty acyl-CoA synthetase, CaFaa4p, is involved in the uptake of exogenous long-chain fatty acids and cell activity in the biofilm. Curr Genet. 2018;64:429-441 pubmed publisher
    Fatty acyl-CoA synthetase (Faa) activates fatty acid (FA) by converting the FA into the CoA ester in the cell. In the present study, we characterized a FAA homologue (CaFAA4) from the opportunistic pathogen Candida albicans...
  88. Burchill M, Roby J, Crochet N, Wind Rotolo M, STONE A, Edwards M, et al. Rapid reversal of innate immune dysregulation in blood of patients and livers of humanized mice with HCV following DAA therapy. PLoS ONE. 2017;12:e0186213 pubmed publisher
    ..Next, using a novel humanized mouse model (Fah-/-RAG2-/-IL2rgnull-FRG), we assessed the changes that occur in the hepatic tissue following DAA treatment...
  89. Campos F, Bonhame Espinosa A, Vizcaino G, Rodríguez I, Durand Herrera D, López López M, et al. Generation of genipin cross-linked fibrin-agarose hydrogels tissue-like models for tissue engineering applications. Biomed Mater. 2017;: pubmed publisher
    ..Uncompressed and nanostructured fibrin-agarose hydrogels (FAH and NFAH respectively) emerged as promising scaffold in TE, but its structure and biomechanical properties must be ..
  90. Aparicio J, Ottobre M, Duhalde Vega M, Coutelier J, Van Snick J, Retegui L. Effects of interleukin 17A (IL-17A) neutralization on murine hepatitis virus (MHV-A59) infection. Eur Cytokine Netw. 2017;28:111-119 pubmed publisher
    ..A59 (MHV-A59) develop hepatitis and autoantibodies (autoAb) to liver and kidney fumarylacetoacetate hydrolase (FAH), a fact closely related to the release of alarmins such as uric acid and/or high-mobility group box protein 1 (..
  91. Horiuchi Y, Lin J, Shinojima Y, Fujiwara K, Moriyama M, Nagase H. Characterizing key nucleotide polymorphisms of hepatitis C virus-disease associations via mass-spectrometric genotyping. Int J Oncol. 2017;: pubmed publisher
    ..SNPs in genes such as XPC, FANCA, KDR and BRCA2 also suggested likely connections between hepatitis C virus susceptibility and the contraction of ..