1 | DYSF, EHBP1, EHD1, EHD2, FER1L5, MYOF, OTOF
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| Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.
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| Posey AD Jr, Pytel P, Gardikiotes K, Demonbreun AR, Rainey M, George M, Band H, McNally EM.
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| J Biol Chem 286(9):7379-88. Epub 2010 Dec 22.
2011
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2 | CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
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| Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
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| Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
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| Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663.
2011
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3 | OTOF
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| Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells.
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| Pangrsic T, Lasarow L, Reuter K, Takago H, Schwander M, Riedel D, Frank T, Tarantino LM, Bailey JS, Strenzke N, Brose N, Müller U, Reisinger E, Moser T.
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| Nat Neurosci 13(7):869-76. Epub 2010 Jun 20.PMID: 20562868 2010
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4 | DFNB9, OTOF
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| Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
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| Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.
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| Clin Genet 75(3):237-43.
2009
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5 | OTOF
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| Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
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| Ramakrishnan NA, Drescher MJ, Drescher DG.
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| J Biol Chem 284(3):1364-72. Epub 2008 Nov 12.
2009
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6 | NSRAN, OTOF
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| Novel OTOF mutations in Brazilian patients with auditory neuropathy.
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| Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.
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| J Hum Genet 54(7):382-5. Epub 2009 May 22.
2009
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7 | MYO6, OTOF
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| Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
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| Heidrych P, Zimmermann U, Kuhn S, Franz C, Engel J, Duncker SV, Hirt B, Pusch CM, Ruth P, Pfister M, Marcotti W, Blin N, Knipper M.
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| Hum Mol Genet 18(15):2779-90. Epub 2009 May 5.
2009
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8 | OTOF, NSRAN
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| A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
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| Rodr’guez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Med‡ C, Curet C, Všlter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Ted’n S, Smith J, Cruz Tapia M, CavallŽ L, Gelvez N, Primignani P, G—mez-Rosas E, Mart’n M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.
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| Hum Mutat 29(6):823-31. 2008
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9 | DFNB9, OTOF, RAB8B
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| Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.
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| Heidrych P, Zimmermann U, Bress A, Pusch CM, Ruth P, Pfister M, Knipper M, Blin N.
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| Hum Mol Genet 17(23):3814-21. Epub 2008 Sep 4.
2008
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10 | OTOF, DFNB9
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| OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
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| Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.
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| J Med Genet 43(7):576-81. Epub 2005 Dec 21. 2006
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11 | OTOF
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| Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
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| Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C.
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| Cell 127(2):277-89. 2006
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12 | OTOF, NSRAN
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| A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
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| Tekin M, Akcayoz D, Incesulu A.
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| Am J Med Genet A 138(1):6-10. 2005
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13 | NSRAN, OTOF
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| Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
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| Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ.
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| J Med Genet 40(1):45-50. No abstract available. 2003
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14 | OTOF
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| Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
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| Rodriguez-Ballesteros M, del Castillo FJ, Martin Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Teran J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I.
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| Hum Mutat 22(6):451-6. 2003
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15 | DFNB9, OTOF
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| Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
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| Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F, Del Castillo I.
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| J Med Genet 39(7):502-6. No abstract available. 2002
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16 | DFNB9, OTOF
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| Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
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| Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N.
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| Neurobiol Dis 10(2):157-64. 2002
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17 | DFNB1, DFNB4, DFNB9, GJB2, OTOF, SLC26A4
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| Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
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| Adato A, Raskin L, Petit C, Bonne-Tamir B.
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| Eur J Hum Genet 8(6):437-42. 2000
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18 | OTOF
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| Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.
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| Yasunaga S, Petit C.
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| Genomics 66(1):110-2. 2000
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19 | DYSF, MYOF, OTOF
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| The third human FER-1-like protein is highly similar to dysferlin.
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| Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R.
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| Genomics 68(3):313-21. 2000
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20 | DFNB9, OTOF
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| OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
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| Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C.
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| Am J Hum Genet 67(3):591-600. 2000
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21 | CENPA, DFNB9, OTOF
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| A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
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| Yasunaga S, et al.
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| Nat Genet 21(4):363-9. 1999
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