1 | DAAM2, INF2, SRN9
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| DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
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| Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F.
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| Am J Hum Genet. Dec 3;107(6):1113-1128. doi: 10.1016/j.ajhg.2020.11.008. Epub 2020 Nov 23 2020
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2 | INF2, SPOP
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| Dysregulation of INF2-mediated mitochondrial fission in SPOP-mutated prostate cancer.
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| Jin X, Wang J, Gao K, Zhang P, Yao L, Tang Y, Tang L, Ma J, Xiao J, Zhang E, Zhu J, Zhang B, Zhao SM, Li Y, Ren S, Huang H, Yu L, Wang C.
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| PLoS Genet 13(4):e1006748. doi: 10.1371/journal.pgen.1006748. [Epub ahead of print]
2017
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3 | FSGS5, INF2
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| Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
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| Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D.
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| J Am Soc Nephrol Am Soc Nephrol. 2016 Dec 14. pii: ASN.2015101189. [Epub ahead of print]
2016
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4 | INF2
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| Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
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| Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KM, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR.
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| Kidney Int 90(2):363-72. doi: 10.1016/j.kint.2016.04.020.
2016
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5 | FSGS5, INF2
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| Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
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| Rood IM, Bongers EM, Lugtenberg D, Klein IH, Steenbergen EJ, Wetzels JF, Deegens JK.
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| Neth J Med 74(2):82-5.
2016
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6 | FHOD1, INF2
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| The formins FHOD1 and INF2 regulate inter- and intra-structural contractility of podosomes.
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| Panzer L, Trübe L, Klose M, Joosten B, Slotman J, Cambi A, Linder S.
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| J Cell Sci 129(2):298-313. doi: 10.1242/jcs.177691.
2016
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7 | FSGS5, INF2
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| Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
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| Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F.
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| Nephrology (Carlton) 21(6):467-75. doi: 10.1111/nep.12627.
2016
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8 | INF2, SPIRE1
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| A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division.
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| Manor U, Bartholomew S, Golani G, Christenson E, Kozlov M, Higgs H, Spudich J, Lippincott-Schwartz J.
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| Elife 4. doi: 10.7554/eLife.08828.
2015
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9 | INF2
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| Assembly and turnover of short actin filaments by the formin INF2 and profilin.
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| Gurel PS, A M, Guo B, Shu R, Mierke DF, Higgs HN.
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| J Biol Chem 290(37):22494-506. doi: 10.1074/jbc.M115.670166.
2015
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10 | INF2
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| Inverted formin 2 in focal adhesions promotes dorsal stress fiber and fibrillar adhesion formation to drive extracellular matrix assembly.
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| Skau CT, Plotnikov SV, Doyle AD, Waterman CM.
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| Proc Natl Acad Sci U S A 112(19):E2447-56. doi: 10.1073/pnas.1505035112.
2015
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11 | CMTDIE, INF2
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| Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
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| Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J.
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| J Peripher Nerv Syst 20(1):52-9. doi: 10.1111/jns.12106.
2015
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12 | CMTDIE, INF2
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| Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.
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| Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM.
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| J Neuropathol Exp Neurol 73(3):223-33. doi: 10.1097/NEN.0000000000000047.
2014
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13 | DIAPH1, FMNL1, INF2
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| Centrosome polarization in T cells: a task for formins.
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| Andrés-Delgado L, Antón OM, Alonso MA.
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| Front Immunol 4:191. doi: 10.3389/fimmu.2013.00191. eCollection 2013.
2013
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14 | INF2
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| Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction.
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| Ramabhadran V, Hatch AL, Higgs HN.
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| J Biol Chem 288(37):26847-55. doi: 10.1074/jbc.M113.472415.
2013
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15 | INF2
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| An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2.
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| Korobova F, Ramabhadran V, Higgs HN.
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| Science 339(6118):464-7. doi: 10.1126/science.1228360.
2013
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16 | CMTDIE, FSGS5, INF2
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| Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing.
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| Ramabhadran V, Gurel PS, Higgs HN.
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| J Biol Chem 287(41):34234-45. doi: 10.1074/jbc.M112.365122. Epub 2012 Aug 9.
2012
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17 | DIAPH1, FMNL02, FMNL3, INF2, SPIRE1
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| The C terminus of formin FMNL3 accelerates actin polymerization and contains a WH2 domain-like sequence that binds both monomers and filament barbed ends.
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| Heimsath EG Jr, Higgs HN.
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| J Biol Chem 287(5):3087-98. doi: 10.1074/jbc.M111.312207. Epub 2011 Nov 17.
2012
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18 | DIAPH1, FMNL1, INF2
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| INF2 promotes the formation of detyrosinated microtubules necessary for centrosome reorientation in T cells.
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| Andrés-Delgado L, Antón OM, Bartolini F, Ruiz-Sáenz A, Correas I, Gundersen GG, Alonso MA.
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| J Cell Biol 198(6):1025-37. doi: 10.1083/jcb.201202137.
2012
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19 | CMTDIE, INF2
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| INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
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| Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
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| N Engl J Med 365(25):2377-88. doi: 10.1056/NEJMoa1109122.
2011
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20 | FSGS5, INF2
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| Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
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| Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.
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| Nat Genet 42(1):72-6. Epub 2009 Dec 20. 2010
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21 | INF2
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| INF2 is an endoplasmic reticulum-associated formin protein.
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| Chhabra ES, Ramabhadran V, Gerber SA, Higgs HN.
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| J Cell Sci 122(Pt 9):1430-40. Epub 2009 Apr 14.PMID: 19366733 2009
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22 | INF2
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| INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.
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| Chhabra ES, Higgs HN.
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| J Biol Chem 281(36):26754-67. Epub 2006 Jul 3.
2006
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23 | INF2
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| Phylogenetic analysis of the formin homology 2 domain.
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| Higgs HN, Peterson KJ.
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| Mol Biol Cell 16(1):1-13. Epub 2004 Oct 27.
2005
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24 | INF2
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| Formin' new ideas about actin filament generation.
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| Bindschadler M, McGrath JL.
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| Proc Natl Acad Sci U S A 101(41):14685-6. Epub 2004 Oct 4. No abstract available.
2004
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