Citations for
1DYSF, EHBP1, EHD1, EHD2, FER1L5, MYOF, OTOF
Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.
Posey AD Jr, Pytel P, Gardikiotes K, Demonbreun AR, Rainey M, George M, Band H, McNally EM.
J Biol Chem 286(9):7379-88. Epub 2010 Dec 22. 2011
2CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
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
3OTOF
Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells.
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.
Nat Neurosci 13(7):869-76. Epub 2010 Jun 20.PMID: 20562868 2010
4DFNB9, OTOF
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.
Clin Genet 75(3):237-43. 2009
5OTOF
Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
Ramakrishnan NA, Drescher MJ, Drescher DG.
J Biol Chem 284(3):1364-72. Epub 2008 Nov 12. 2009
6NSRAN, OTOF
Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.
J Hum Genet 54(7):382-5. Epub 2009 May 22. 2009
7MYO6, OTOF
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
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.
Hum Mol Genet 18(15):2779-90. Epub 2009 May 5. 2009
8OTOF, NSRAN
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
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.
Hum Mutat 29(6):823-31. 2008
9DFNB9, OTOF, RAB8B
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.
Heidrych P, Zimmermann U, Bress A, Pusch CM, Ruth P, Pfister M, Knipper M, Blin N.
Hum Mol Genet 17(23):3814-21. Epub 2008 Sep 4. 2008
10OTOF, DFNB9
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.
J Med Genet 43(7):576-81. Epub 2005 Dec 21. 2006
11OTOF
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
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.
Cell 127(2):277-89. 2006
12OTOF, NSRAN
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
Tekin M, Akcayoz D, Incesulu A.
Am J Med Genet A 138(1):6-10. 2005
13NSRAN, OTOF
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ.
J Med Genet 40(1):45-50. No abstract available. 2003
14OTOF
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
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.
Hum Mutat 22(6):451-6. 2003
15DFNB9, OTOF
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F, Del Castillo I.
J Med Genet 39(7):502-6. No abstract available. 2002
16DFNB9, OTOF
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N.
Neurobiol Dis 10(2):157-64. 2002
17DFNB1, DFNB4, DFNB9, GJB2, OTOF, SLC26A4
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.
Adato A, Raskin L, Petit C, Bonne-Tamir B.
Eur J Hum Genet 8(6):437-42. 2000
18OTOF
Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.
Yasunaga S, Petit C.
Genomics 66(1):110-2. 2000
19DYSF, MYOF, OTOF
The third human FER-1-like protein is highly similar to dysferlin.
Britton S, Freeman T, Vafiadaki E, Keers S, Harrison R, Bushby K, Bashir R.
Genomics 68(3):313-21. 2000
20DFNB9, OTOF
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C.
Am J Hum Genet 67(3):591-600. 2000
21CENPA, DFNB9, OTOF
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Yasunaga S, et al.
Nat Genet 21(4):363-9. 1999