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Gene Review

AFA  -  ankyloblepharon filiforme adnatum

Homo sapiens

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Disease relevance of AFA


High impact information on AFA

  • Immunofluorescence analysis demonstrated that activation of PKCalpha by phorbol 12-myristate 13-acetate (PMA), or ectopic expression of constitutively activated PKCalpha, directs AFAP-110 to colocalize with and bind to the c-Src SH3 domain, resulting in activation of the tyrosine kinase [6].
  • Ectopic expression of AFAP-110 in CaOV3 cells rescued PKCalpha-mediated activation of c-Src and elevated tyrosine phosphorylation levels and subsequent formation of podosomes [6].
  • In a cell line (CaOV3) that has very little or no detectable AFAP-110, PMA treatment was unable to activate c-Src or effect podosome formation [6].
  • The potential roles of AFAP-110 as an SH3/SH2 cytoskeletal binding protein are discussed [7].
  • AFAP-110 binds actin filaments directly and multimerizes through a leucine zipper motif [8].

Chemical compound and disease context of AFA


Biological context of AFA


Anatomical context of AFA

  • Sex-specific median measurements of BMI, waist circumference, percentage body fat and height defined current anthropometric status, providing four groups for each measure: UFA-low or UFA-high and AFA-low or AFA-high [14].
  • Using serial sections of frozen and AFA-fixed tissues from 34 breast cancers, we studied the presence of basement membrane material in the areas of elastosis [15].
  • Nutritional status was assessed using objective anthropometric measurements (triceps skinfold, mid upper-arm circumference, midarm muscle area [AMA], midarm fat area [AFA]) and subjective clinical features (temporal muscle atrophy [TMA] and Bichat's fat atrophy [BFA]) [16].
  • The mean leukocyte numbers of the ASA and APA groups were significantly higher compared to the AFA group [5].
  • One hundred seven teeth with a total of 171 canals with various contents (105 vital pulp, 47 necrotic pulp, and 19 retrieval of root canal filling materials) were measured for root canal length in vivo with the AFA Apex Finder [17].

Associations of AFA with chemical compounds

  • With regard to the potential adverse effect of the fixatives used, PCR products were obtained in 100%, 91.5%, 90.5%, and 0% of tumors fixed with AFA, buffered formalin, Holland Bouin, and conventional Bouin's fluid, respectively [18].
  • Haloperidol (HAL) (1.0 mg/kg s.c.)+/-amfonelic acid (AFA) (5 mg/kg i.p.) increased striatal DOPA accumulation, increased striatal DA efflux, lowered striatal tissue tyrosine levels, but did not affect microdialysate tyrosine levels [19].
  • A dose of thimerosal close to the threshold dose for induction of AFA (2mg/L drinking water-internal dose 118mugHg/kgbw per day), caused a renal Hg(2+) concentration of 1.8mug/g. The autoimmunogen effect of EtHg might therefore be entirely due to Hg(2+) formed from EtHg in the body [4].
  • The organic mercury species methylmercury (MeHg) and ethylmercury (EtHg-in the form of thimerosal) induce AFA, while the other manifestations of HgIA seen after treatment with HgCl(2) are present to varying extent [4].
  • On the contrary, the increase of AFA revealed a recovery of fat-metabolism (corresponding to RQ decrease) and lipid/carbohydrates oxidation improvement, only in the presence, at the same time, of O2 consumption increase [20].

Other interactions of AFA


Analytical, diagnostic and therapeutic context of AFA

  • METHODS: In this prospective, randomized study, 160 nulliparous women with AFA were randomly assigned to one of two groups: AEA with ambulation and AEA without ambulation [25].
  • Preoperative and postoperative measurements were made following both PRK and LASIK performed with conventional software, modified Aberration-free Profile (AFA) software, and specially designed WASCA software [26].
  • The probe was further tested for specificity with in situ hybridizations on AFA-fixed, paraffin-embedded tissue sections [27].
  • Serum antifilaggrin autoantibodies were detected by immunoblotting (AFA) and by indirect immunofluorescence ("AKA") [28].
  • Western blot analysis indicate that a larger 120-kDa variant of AFAP-110 can be detected in brain and is not detectable in any other tissues examined [29].


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  2. Ankyloblepharon filiforme adnatum. Akkermans, C.H., Stern, L.M. The British journal of ophthalmology. (1979) [Pubmed]
  3. AFA and F17 adhesins produced by pathogenic Escherichia coli strains in domestic animals. Le Bouguénec, C., Bertin, Y. Vet. Res. (1999) [Pubmed]
  4. Dose and Hg species determine the T-helper cell activation in murine autoimmunity. Havarinasab, S., Bj??rn, E., Ekstrand, J., Hultman, P. Toxicology (2007) [Pubmed]
  5. Plasma superoxide dismutase activity and malondialdehyde level correlate with the extent of acute appendicitis. Koltuksuz, U., Uz, E., Ozen, S., Aydinç, M., Karaman, A., Akyol, O. Pediatr. Surg. Int. (2000) [Pubmed]
  6. Protein kinase Calpha activates c-Src and induces podosome formation via AFAP-110. Gatesman, A., Walker, V.G., Baisden, J.M., Weed, S.A., Flynn, D.C. Mol. Cell. Biol. (2004) [Pubmed]
  7. Identification and sequence analysis of cDNAs encoding a 110-kilodalton actin filament-associated pp60src substrate. Flynn, D.C., Leu, T.H., Reynolds, A.B., Parsons, J.T. Mol. Cell. Biol. (1993) [Pubmed]
  8. PC phosphorylation increases the ability of AFAP-110 to cross-link actin filaments. Qian, Y., Baisden, J.M., Cherezova, L., Summy, J.M., Guappone-Koay, A., Shi, X., Mast, T., Pustula, J., Zot, H.G., Mazloum, N., Lee, M.Y., Flynn, D.C. Mol. Biol. Cell (2002) [Pubmed]
  9. Ankyloblepharon filiforme adnatum. Weiss, A.H., Riscile, G., Kousseff, B.G. Am. J. Med. Genet. (1992) [Pubmed]
  10. A new RNA-friendly fixative for the preservation of penaeid shrimp samples for virological detection using cDNA genomic probes. Hasson, K.W., Hasson, J., Aubert, H., Redman, R.M., Lightner, D.V. J. Virol. Methods (1997) [Pubmed]
  11. Ankyloblepharon filiforme adnatum (AFA) associated with trisomy 18. Tüysüz, B., Ilikkan, B., Vural, M., Perk, Y. Turk. J. Pediatr. (2002) [Pubmed]
  12. Presence of pap-, sfa-, and afa-related sequences in necrotoxigenic Escherichia coli isolates from cattle: evidence for new variants of the AFA family. Mainil, J.G., Jacquemin, E., Hérault, F., Oswald, E. Can. J. Vet. Res. (1997) [Pubmed]
  13. Immunologic associations of keloids. Placik, O.J., Lewis, V.L. Surgery, gynecology & obstetrics. (1992) [Pubmed]
  14. Adult BMI and fat distribution but not height amplify the effect of low birthweight on insulin resistance and increased blood pressure in 20-year-old South Africans. Levitt, N.S., Lambert, E.V., Woods, D., Seckl, J.R., Hales, C.N. Diabetologia (2005) [Pubmed]
  15. The presence of a type IV collagen skeleton associated with periductal elastosis in breast cancer. Verhoeven, D., Bourgeois, N., Noël, A., Foidart, J.M., Buyssens, N. J. Histochem. Cytochem. (1990) [Pubmed]
  16. Functional decline and nutritional status in a hospitalized geriatric population: sequential study. Morales-Rodriguez, P., González-Reimers, E., Santolaria-Fernández, F., Batista-López, N., González-Reyes, A. Nutrition (Burbank, Los Angeles County, Calif.) (1990) [Pubmed]
  17. Influence of the canal contents on the electrical assisted determination of the length of root canals. Pommer, O., Stamm, O., Attin, T. Journal of endodontics. (2002) [Pubmed]
  18. Detection of the synovial sarcoma translocation t(X;18) (SYT;SSX) in paraffin-embedded tissues using reverse transcriptase-polymerase chain reaction: a reliable and powerful diagnostic tool for pathologists. A molecular analysis of 221 mesenchymal tumors fixed in different fixatives. Guillou, L., Coindre, J., Gallagher, G., Terrier, P., Gebhard, S., de Saint Aubain Somerhausen, N., Michels, J., Jundt, G., Vince, D.R., Collin, F., Trassard, M., Le Doussal, V., Benhattar, J. Hum. Pathol. (2001) [Pubmed]
  19. Increased striatal dopamine synthesis is associated with decreased tissue levels of tyrosine. Bongiovanni, R., Young, D., Newbould, E., Jaskiw, G.E. Brain Res. (2006) [Pubmed]
  20. Dynamic monitoring of restricted eating disorders by indirect calorimetry: a useful cognitive approach. Dragani, B., Malatesta, G., Di Ilio, C., De Cristofaro, P. Eating and weight disorders : EWD. (2006) [Pubmed]
  21. Suppression of KATP currents by gene transfer of a dominant negative Kir6.2 construct. Lalli, M.J., Johns, D.C., Janecki, M., Liu, Y., O'Rourke, B., Marban, E. Pflugers Arch. (1998) [Pubmed]
  22. Autoantibodies to filaggrin/deiminated fibrin (AFA) are useful for the diagnosis and prognosis of rheumatoid arthritis, and are probably involved in the pathophysiology of the disease. Serre, G. Joint, bone, spine : revue du rhumatisme. (2001) [Pubmed]
  23. Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. Kousseff, B.G., Papenhausen, P., Essig, Y.P., Torres, M.P. J. Med. Genet. (1993) [Pubmed]
  24. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Greene, S.L., Michels, V.V., Doyle, J.A. Am. J. Med. Genet. (1987) [Pubmed]
  25. Effect of epidural analgesia with ambulation on labor duration. Vallejo, M.C., Firestone, L.L., Mandell, G.L., Jaime, F., Makishima, S., Ramanathan, S. Anesthesiology (2001) [Pubmed]
  26. Wavefront customized ablations with the WASCA Asclepion workstation. Panagopoulou, S.I., Pallikaris, I.G. Journal of refractive surgery (Thorofare, N.J. : 1995) (2001) [Pubmed]
  27. A sensitive and specific DNA probe for the oyster pathogen Haplosporidium nelsoni. Stokes, N.A., Burreson, E.M. J. Eukaryot. Microbiol. (1995) [Pubmed]
  28. Antifilaggrin antibodies in early rheumatoid arthritis may predict radiological progression. Forslin, K., Vincent, C., Serre, G., Svensson, B. Scand. J. Rheumatol. (2001) [Pubmed]
  29. AFAP-120. A variant form of the Src SH2/SH3-binding partner AFAP-110 is detected in brain and contains a novel internal sequence which binds to a 67-kDa protein. Flynn, D.C., Koay, T.C., Humphries, C.G., Guappone, A.C. J. Biol. Chem. (1995) [Pubmed]
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