Citations for
1ASB2, FLNA
Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development
Métais A, Lamsoul I, Melet A, Uttenweiler-Joseph S, Poincloux R, Stefanovic S, Valière A, Gonzalez de Peredo A, Stella A, Burlet-Schiltz O, Zaffran S, Lutz PG, Moog-Lutz C.
Circ Res. Mar 16;122(6):e34-e48. doi: 10.1161/CIRCRESAHA.117.312015. Epub 2018 Jan 26 2018
2FLNA, ITGA2B, ITGB3
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M.
Arterioscler Thromb Vasc Biol 37(6):1087-1097. doi: 10.1161/ATVBAHA.117.309337. Epub 2017 Apr 20. 2017
3FLNA, FLNB
Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading. 2017 Apr 1;26(7):1294-1304. doi: 10.1093/hmg/ddx047. PMID:
Hu J, Lu J, Goyal A, Wong T, Lian G, Zhang J, Hecht JL, Feng Y, Sheen VL.
Hum Mol Genet. Apr 1;26(7):1294-1304. doi: 10.1093/hmg/ddx047 2017
4FLNA, PACSIN2
FlnA binding to PACSIN2 F-BAR domain regulates membrane tubulation in megakaryocytes and platelets.
Begonja AJ, Pluthero FG, Suphamungmee W, Giannini S, Christensen H, Leung R, Lo RW, Nakamura F, Lehman W, Plomann M, Hoffmeister KM, Kahr WH, Hartwig JH, Falet H.
Blood 126(1):80-8. doi: 10.1182/blood-2014-07-587600. Epub 2015 Apr 2. 2015
5ASB2, FLNA, FLNB
Substrates of the ASB2α E3 ubiquitin ligase in dendritic cells
Spinner CA, Uttenweiler-Joseph S, Metais A, Stella A, Burlet-Schiltz O, Moog-Lutz C, Lamsoul I, Lutz PG.
Sci Rep. Nov 5;5:16269. doi: 10.1038/srep16269. 2015
6FLNA, RNASEL
RNase L interacts with Filamin A to regulate actin dynamics and barrier function for viral entry.
Malathi K, Siddiqui MA, Dayal S, Naji M, Ezelle HJ, Zeng C, Zhou A, Hassel BA.
MBio 5(6):e02012. doi: 10.1128/mBio.02012-14. 2014
7FLNA
Complex roles of filamin-A mediated cytoskeleton network in cancer progression.
Yue J, Huhn S, Shen Z.
Cell Biosci 3(1):7. doi: 10.1186/2045-3701-3-7. 2013
8BPNH, FLNA
Heterogeneity of platelet functional alterations in patients with filamin A mutations.
Berrou E, Adam F, Lebret M, Fergelot P, Kauskot A, Coupry I, Jandrot-Perrus M, Nurden A, Favier R, Rosa JP, Goizet C, Nurden P, Bryckaert M.
Arterioscler Thromb Vasc Biol 33(1):e11-8. doi: 10.1161/ATVBAHA.112.300603. Epub 2012 Nov 1. 2013
9ARFGEF2, FLNA
Filamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.
Zhang J, Neal J, Lian G, Hu J, Lu J, Sheen V.
J Neurosci 33(40):15735-46. doi: 10.1523/JNEUROSCI.1939-13.2013. 2013
10FLNA, SCNN1A
Filamin interacts with epithelial sodium channel and inhibits its channel function.
Wang Q, Dai XQ, Li Q, Tuli J, Liang G, Li SS, Chen XZ.
J Biol Chem 288(1):264-73. doi: 10.1074/jbc.M112.396408. Epub 2012 Nov 16. 2013
11ASB2, FLNA
ASB2α, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain
Razinia Z, Baldassarre M, Cantelli G, Calderwood DA
J Biol Chem. Nov 1;288(44):32093-105. doi: 10.1074/jbc.M113.496604. Epub 2013 Sep 19. 2013
12BPNH, FLNA
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C.
Hum Mol Genet 21(5):1004-17. Epub 2011 Nov 10. 2012
13FLNA
Macrophage mesenchymal migration requires podosome stabilization by filamin A.
Guiet R, Vérollet C, Lamsoul I, Cougoule C, Poincloux R, Labrousse A, Calderwood DA, Glogauer M, Lutz PG, Maridonneau-Parini I.
J Biol Chem 287(16):13051-62. doi: 10.1074/jbc.M111.307124. Epub 2012 Feb 9. 2012
14FLNA, TMEM67
A meckelin-filamin A interaction mediates ciliogenesis.
Adams M, Simms RJ, Abdelhamed Z, Dawe HR, Szymanska K, Logan CV, Wheway G, Pitt E, Gull K, Knowles MA, Blair E, Cross SH, Sayer JA, Johnson CA.
Hum Mol Genet 21(6):1272-86. doi: 10.1093/hmg/ddr557. Epub 2011 Nov 25. 2012
15CIPO2, FLNA
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O'Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM.
Genet Med enet Med. 2012 Oct 4. doi: 10.1038/gim.2012.123. [Epub ahead of print] 2012
16FLNA
Cytoskeletal protein filamin A is a nucleolar protein that suppresses ribosomal RNA gene transcription.
Deng W, Lopez-Camacho C, Tang JY, Mendoza-Villanueva D, Maya-Mendoza A, Jackson DA, Shore P.
Proc Natl Acad Sci U S A 109(5):1524-9. doi: 10.1073/pnas.1107879109. Epub 2012 Jan 17. 2012
17ARFGEF2, FLNA
Brefeldin A-inhibited guanine exchange factor 2 regulates filamin A phosphorylation and neuronal migration.
Zhang J, Neal J, Lian G, Shi B, Ferland RJ, Sheen V.
J Neurosci 32(36):12619-29. doi: 10.1523/JNEUROSCI.1063-12.2012. 2012
18FLNA, FLNB, FLNC, PKD2
Structural interaction and functional regulation of polycystin-2 by filamin
Wang Q, Dai XQ, Li Q, Wang Z, Cantero Mdel R, Li S, Shen J, Tu JC, Cantiello H, Chen XZ.
PLoS One. 7(7):e40448. doi: 10.1371/journal.pone.0040448. Epub 2012 Jul 10. 2012
19ASB2, FLNA, FLNB
Filamins but not Janus kinases are substrates of the ASB2α cullin-ring E3 ubiquitin ligase in hematopoietic cells
Lamsoul I, Erard M, van der Ven PF, Lutz PG.
PLoS One. ;7(8):e43798. doi: 10.1371/journal.pone.0043798. Epub 2012 Aug 20 2012
20FLNA
Filamin A stimulates cdc25C function and promotes entry into mitosis.
Telles E, Gurjar M, Ganti K, Gupta D, Dalal SN.
Cell Cycle 10(5):776-82. Epub 2011 Mar 1. 2011
21FLNA, INPPL1, NPHS, NPHS1, RAPH1
Nephrin regulates lamellipodia formation by assembling a protein complex that includes Ship2, filamin and lamellipodin.
Venkatareddy M, Cook L, Abuarquob K, Verma R, Garg P.
PLoS One 6(12):e28710. doi: 10.1371/journal.pone.0028710. Epub 2011 Dec 14. 2011
22FLNA, RRAS
R-Ras interacts with filamin a to maintain endothelial barrier function.
Griffiths GS, Grundl M, Allen JS 3rd, Matter ML.
J Cell Physiol 226(9):2287-96. doi: 10.1002/jcp.22565. 2011
23FLNA, PVNH4
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C.
Blood 118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29. 2011
24FLNA
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
Page RC, Clark JG, Misra S.
Acta Crystallogr Sect F Struct Biol Cryst Commun 67(Pt 8):871-6. doi: 10.1107/S1744309111024249. Epub 2011 Jul 26. 2011
25FLNA
Phosphorylated filamin A regulates actin-linked caveolae dynamics.
Muriel O, Echarri A, Hellriegel C, Pavón DM, Beccari L, Del Pozo MA.
J Cell Sci 124(Pt 16):2763-76. doi: 10.1242/jcs.080804. 2011
26FLNA
The filamins: organizers of cell structure and function.
Nakamura F, Stossel TP, Hartwig JH.
Cell Adh Migr 5(2):160-9. Epub 2011 Mar 1. Review. 2011
27FLNA
Filamin A mediates interactions between cytoskeletal proteins that control cell adhesion.
Kim H, McCulloch CA.
FEBS Lett 585(1):18-22. doi: 10.1016/j.febslet.2010.11.033. Epub 2010 Nov 21. Review. 2011
28ARHGAP24, FLNA
Mechanical strain in actin networks regulates FilGAP and integrin binding to filamin A.
Ehrlicher AJ, Nakamura F, Hartwig JH, Weitz DA, Stossel TP.
Nature 478(7368):260-3. doi: 10.1038/nature10430. 2011
29FBLIM1, FLNA
Migfilin and filamin as regulators of integrin activation in endothelial cells and neutrophils.
Das M, Ithychanda SS, Qin J, Plow EF.
PLoS One 6(10):e26355. doi: 10.1371/journal.pone.0026355. Epub 2011 Oct 17. 2011
30FLNA, MAP2K4, MAP2K7
Filamin associates with stress signalling kinases MKK7 and MKK4 and regulates JNK activation.
Nakagawa K, Sugahara M, Yamasaki T, Kajiho H, Takahashi S, Hirayama J, Minami Y, Ohta Y, Watanabe T, Hata Y, Katada T, Nishina H.
Biochem J 427(2):237-45.PMID: 20156194 2010
31CFTR, FLNA
Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.
Playford MP, Nurminen E, Pentikäinen OT, Milgram SL, Hartwig JH, Stossel TP, Nakamura F.
J Biol Chem 285(22):17156-65. Epub 2010 Mar 29. 2010
32FLNA, MLNS
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ.
Am J Med Genet A 152A(3):726-31.PMID: 20186808 2010
33FLNA, FLNB, KDR, RAC1, VAV2
Filamin B plays a key role in vascular endothelial growth factor-induced endothelial cell motility through its interaction with Rac-1 and Vav-2.
Del Valle-Pérez B, Martínez VG, Lacasa-Salavert C, Figueras A, Shapiro SS, Takafuta T, Casanovas O, Capellà G, Ventura F, Viñals F.
J Biol Chem 285(14):10748-60. Epub 2010 Jan 28. 2010
34FLNA, ODPF
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH.
Am J Hum Genet 87(1):146-53.PMID: 20598277 2010
35BPNH, FLNA
FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia.
Kunishima S, Ito-Yamamura Y, Hayakawa A, Yamamoto T, Saito H.
J Hum Genet 55(12):844-6. Epub 2010 Sep 16. 2010
36FLNA, IGFBP5
Insulin-like growth factor-binding protein-5-induced laminin gamma1 transcription requires filamin A.
Abrass CK, Hansen KM.
J Biol Chem 285(17):12925-34. Epub 2010 Feb 18. 2010
37FLNA, RRAS
R-Ras regulates migration through an interaction with filamin A in melanoma cells.
Gawecka JE, Griffiths GS, Ek-Rylander B, Ramos JW, Matter ML.
PLoS One 5(6):e11269. doi: 10.1371/journal.pone.0011269. 2010
38FLNA
Structure of the human filamin A actin-binding domain.
Ruskamo S, Ylänne J.
Acta Crystallogr D Biol Crystallogr 65(Pt 11):1217-21. Epub 2009 Oct 22.PMID: 19923718 2009
39BPNH, FLNA
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Solé G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Faivre L, Landré E, Debruxelles S, Dieux-Coeslier A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.
J Neurol Neurosurg Psychiatry 80(12):1394-8.PMID: 19917821 2009
40FLNA
The cytoskeleton protein filamin-A is required for an efficient recombinational DNA double strand break repair.
Yue J, Wang Q, Lu H, Brenneman M, Fan F, Shen Z.
Cancer Res 69(20):7978-85. Epub 2009 Oct 6.PMID: 19808958 2009
41FLNA, OPD2
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ.
Hum Mol Genet 18(24):4791-800. Epub 2009 Sep 22.PMID: 19773341 2009
42FLNA
Crystal structure of the dimerization domain of human filamin A.
Seo MD, Seok SH, Im H, Kwon AR, Lee SJ, Kim HR, Cho Y, Park D, Lee BJ.
Proteins 75(1):258-63. No abstract available. PMID: 19137608 2009
43FLNA, FLNB
Filamins regulate cell spreading and initiation of cell migration.
Baldassarre M, Razinia Z, Burande CF, Lamsoul I, Lutz PG, Calderwood DA.
PLoS One 4(11):e7830.PMID: 19915675 2009
44ARHGAP24, FLNA
Molecular basis of filamin A-FilGAP interaction and its impairment in congenital disorders associated with filamin A mutations.
Nakamura F, Heikkinen O, Pentikäinen OT, Osborn TM, Kasza KE, Weitz DA, Kupiainen O, Permi P, Kilpeläinen I, Ylänne J, Hartwig JH, Stossel TP.
PLoS One 4(3):e4928. doi: 10.1371/journal.pone.0004928. Epub 2009 Mar 18. 2009
45ARHGAP24, FLNA
The role of FilGAP-filamin A interactions in mechanoprotection.
Shifrin Y, Arora PD, Ohta Y, Calderwood DA, McCulloch CA.
Mol Biol Cell 20(5):1269-79. doi: 10.1091/mbc.E08-08-0872. Epub 2009 Jan 14. 2009
46ASB2, FLNA, FLNB
ASB2 targets filamins A and B to proteasomal degradation.
Heuzé ML, Lamsoul I, Baldassarre M, Lad Y, Lévêque S, Razinia Z, Moog-Lutz C, Calderwood DA, Lutz PG.
Blood 112(13):5130-40. Epub 2008 Sep 17.PMID: 18799729 2008
47CAV1, FLNA
Filamin A is a novel caveolin-1-dependent target in IGF-I-stimulated cancer cell migration.
Ravid D, Chuderland D, Landsman L, Lavie Y, Reich R, Liscovitch M.
Exp Cell Res 314(15):2762-73. Epub 2008 Jun 12. 2008
48FLNA, OPD1, OPD2, MLNS, FMTD
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP.
Eur J Hum Genet 15(1):3-9. Epub 2006 Aug 23. 2007
49FLNA, CIPO2
Filamin a is mutated in x-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A.
Am J Hum Genet 80(4):751-8. Epub 2007 Feb 26. 2007
50FLNA,OPD2
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Marino-Enriquez A, Lapunzina P, Robertson SP, Rodriguez JI.
Am J Med Genet A 143(10):1120-5. 2007
51FLNA, FGS2
Filamin A mutation is one cause of FG syndrome.
Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ.
Am J Med Genet A 143(16):1876-9. 2007
52FLNA, OPD1, MLNS
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S.
Eur J Hum Genet 14(5):549-54. 2006
53FLNA, FMTD
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
Zenker M, Nahrlich L, Sticht H, Reis A, Horn D.
Am J Med Genet A 140(10):1069-73. 2006
54FLNA, BPNH
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.
J Med Genet 43(6):541-4. Epub 2005 Nov 18. 2006
55FLNA, FMTD
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Macini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D.
Am J Med Genet A 140(16):1726-36. 2006
56FLNA
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.
Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA.
Proc Natl Acad Sci U S A 103(52):19836-41. Epub 2006 Dec 15. 2006
57MAPK14, FLNA, SP1
Role of p38 in stress activation of Sp1.
D'Addario M, Arora PD, McCulloch CA.
Gene 379:51-61. Epub 2006 May 4. 2006
58FLNA
Silencing of filamin A gene expression inhibits Ca2+ -sensing receptor signaling.
Huang C, Wu Z, Hujer KM, Miller RT.
FEBS Lett 580(7):1795-800. Epub 2006 Feb 24. 2006
59FLNA, PRKCQ
Filamin A is required for T cell activation mediated by protein kinase C-theta.
Hayashi K, Altman A.
J Immunol 177(3):1721-8. 2006
60FLNA, MAP3K4
MEKK4 signaling regulates filamin expression and neuronal migration.
Sarkisian MR, Bartley CM, Chi H, Nakamura F, Hashimoto-Torii K, Torii M, Flavell RA, Rakic P.
Neuron 52(5):789-801. 2006
61FLNA, PVNH4
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
Gómez-Garre P, Seijo M, Gutiérrez-Delicado E, Castro del Río M, de la Torre C, Gómez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM.
J Med Genet 43(3):232-7. Epub 2005 Jul 1. 2006
62CBFB, FLNA
Filamin A-bound PEBP2beta/CBFbeta is retained in the cytoplasm and prevented from functioning as a partner of the Runx1 transcription factor.
Yoshida N, Ogata T, Tanabe K, Li S, Nakazato M, Kohu K, Takafuta T, Shapiro S, Ohta Y, Satake M, Watanabe T.
Mol Cell Biol 25(3):1003-12. 2005
63FLNA, OPD2
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
Stefanova M, Meinecke P, Gal A, Bolz H.
Am J Med Genet A 132(4):386-90. 2005
64FLNA, OPD1
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.
Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.
Am J Med Genet A 136(2):190-3. 2005
65PVNH4, FLNA
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA.
Neurology 64(2):254-62. 2005
66PVNH4, FLNA
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
Gomez-Garre P, Serratosa JM.
Hum Genet 118(3-4):545. No abstract available. 2005
67GP1BA, FLNA
Identification of a unique filamin A binding region within the cytoplasmic domain of glycoprotein Ibalpha.
Cranmer SL, Pikovski I, Mangin P, Thompson PE, Domagala T, Frazzetto M, Salem HH, Jackson SP.
Biochem J 387(Pt 3):849-58. 2005
68FLNA, FMTD, BPNH
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A.
Am J Hum Genet 74(4):731-7. Epub 2004 Feb 25. 2004
69BPNH, FLNA
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Kramer G, Moro F, Dobyns WB, Parrini E.
Neurology 63(1):51-6. 2004
70BPNH, FLNA, FMTD, MLNS , OPD1, OPD2
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group.
Nat Genet 33(4):487-91. 2003
71FLNA, FLNB
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA.
Hum Mol Genet 11(23):2845-54. 2002
72DCN, FLNA
Leucine-rich repeat region of decorin binds to filamin-A.
Yoshida K, Suzuki Y, Honda E, Amemiya K, Nakatani T, Ebina M, Narumi K, Satoh K, Munakata H.
Biochimie 84(4):303-8. 2002
73BPNH, FLNA
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA.
Hum Mol Genet 10(17):1775-83. 2001
74FLNA
Structural and functional aspects of filamins.
van der Flier A, Sonnenberg A.
Biochim Biophys Acta 1538(2-3):99-117. Review.PMID: 11336782 2001
75FLNA, SH2B3
Identification of actin binding protein, ABP-280, as a binding partner of human Lnk adaptor protein.
He X, Li Y, Schembri-King J, Jakes S, Hayashi J.
Mol Immunol 37(10):603-12. 2000
76FLNA, BPNH
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
Fox JW, et al.
Am J Hum Genet 65(1):19-24. Review. No abstract available 1999
77FLNA, BPNH
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Fox JW, et al.
Neuron 21(6):1315-25. 1998
78F8, F8D, FLNA
A compositional map of human chromosome band Xq28.
De Sario A, et al.
Proc Natl Acad Sci U S A 93 : 1298-1302. 1996
79CVG@, FLNA, G6PD, GDI1, PLXNA3, RGCP@
Long-range sequence analysis in Xq28 : thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
Chen EY, et al.
Hum Mol Genet 5 : 659-668. 1996
80FLNA
The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.
Patrosso MC, et al.
Genomics 21 : 71-76. 1994
81FLNA, FLNC
Comparative mapping of the actin-binding protein 280 genes in human and mouse.
Gariboldi M, et al.
Genomics 21 : 428-430. 1994
82ATP6AP1, DNASE1L1, DXS253E, DXS254E, EMD, FLNA, G6PD, GDI1, RGCP@, RPL10, UBL4A
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
Bione S, et al.
Proc Natl Acad Sci U S A 90 : 10977-10981. 1993
83FLNA, FLNC
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.
Maestrini E, et al.
Hum Mol Genet 2 : 761-766. 1993
84FLNA
Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.
Gorlin JB, et al.
Genomics 17 : 496-498. 1993
85FLNA
The dystrophin-like actin binding protein 280 gene maps between DXS52 and G6PD overlapping the Emery-Dreyfuss muscular dystrophy locus.
Kunst CB, et al.
Am J Hum Genet 51 : A21. 1992
86FLNA, FMTD
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue.
Danks DM, Mayne V, Hall RK, McKinnon MC.
Am J Dis Child 123(3):254-8. No abstract available. 1972