| 1 | COCH, DFNA9
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| Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)
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| Honda T, Kawasaki N, Yanagihara R, Tamura R, Murakami K, Ichimiya T, Matsumoto N, Nishihara S, Yamamoto K.
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| PLoS One. Jul 28;17(7):e0268485. doi: 10.1371/journal.pone.0268485. 2022
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| 2 | COCH
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| Cochlin Deficiency Protects Against Noise-Induced Hearing Loss
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| Seist R, Landegger LD, Robertson NG, Vasilijic S, Morton CC, Stankovic KM.
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| Front Mol Neurosci. May 24;14:670013. doi: 10.3389/fnmol.2021.670013. 2021
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| 3 | COCH
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| Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor.
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| Leventea E, Zhu Z, Fang X, Nikolaeva Y, Markham E, Hirst RA, van Eeden FJM, Malicki JJ.
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| Proc Natl Acad Sci U S A. Jul 13;118(28):e2102562118. doi: 10.1073/pnas.2102562118. 2021
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| 4 | COCH, DFNA9, DFNB110
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| Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.
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| Conte G, Lo Russo F, Caschera L, Zanetti D, Castorina P, Sina C, Triulzi F, Di Berardino F.
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| Audiol Neurootol. 24(4):166-173. doi: 10.1159/000501292. Epub 2019 Aug 7 2019
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| 5 | COCH, PDE2A
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| A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
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| Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H.
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| Mov Disord ov Disord. 2018 Feb 2. doi: 10.1002/mds.27286. [Epub ahead of print]
2018
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| 6 | COCH, DFNB110
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| Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
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| JanssensdeVarebeke SPF, Van Camp G, Peeters N, Elinck E, Widdershoven J, Cox T, Deben K, Ketelslagers K, Crins T, Wuyts W.
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| Eur J Hum Genet. Apr;26(4):587-591. doi: 10.1038/s41431-017-0066-2. Epub 2018 Feb 15. 2018
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| 7 | COCH, DFNA9
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| Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
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| Gao J, Xue J, Chen L, Ke X, Qi Y, Liu Y.
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| Clin Genet 83(5):477-81. doi: 10.1111/cge.12006. Epub 2012 Oct 4.
2013
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| 8 | COCH, DFNA9
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| Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
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| Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ.
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| Am J Med Genet A 149A(2):280-5. No abstract available.
2009
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| 9 | DFNA9, COCH
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| Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
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| Yuan HJ, Han DY, Sun Q, Yan D, Sun HJ, Tao R, Cheng J, Qin W, Angeli S, Ouyang XM, Yang SZ, Feng L, Cao JY, Feng GY, Wang YF, Dai P, Zhai SQ, Yang WY, He L, Liu XZ.
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| Clin Genet 73(4):391-4. Epub 2008 Feb 27. No abstract available. 2008
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| 10 | COCH, DFNA9
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| The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens.
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| Nagy I, Trexler M, Patthy L.
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| FEBS Lett 582(29):4003-7. Epub 2008 Nov 12.
2008
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| 11 | COCH, DFNA9
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| Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
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| Pauw RJ, Collin RW, Huygen PL, Hoefsloot LH, Kremer H, Cremers CW.
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| Audiol Neurootol 12(2):77-84. Epub 2006 Dec 6. 2007
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| 12 | COCH, DFNA9
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| Phenotype description of a novel DFNA9/COCH mutation, I109T.
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| Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW.
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| Ann Otol Rhinol Laryngol 116(5):349-57.
2007
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| 13 | COCH, DFNA9
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| Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
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| Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB Jr, Sarracino DA, Verhagen WI, Morton CC.
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| Hum Mol Genet 15(7):1071-85. Epub 2006 Feb 15. 2006
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| 14 | COCH, DFNA9
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| Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).
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| Collin RW, Pauw RJ, Schoots J, Huygen PL, Hoefsloot LH, Cremers CW, Kremer H.
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| Am J Med Genet A 140(16):1791-4. No abstract available. 2006
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| 15 | COCH, DFNA9
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| A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
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| Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO.
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| Am J Med Genet A 139(2):86-95. 2005
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| 16 | LIF, COCH
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| Cochlin, a secreted von Willebrand factor type a domain-containing factor, is regulated by leukemia inhibitory factor in the uterus at the time of embryo implantation.
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| Rodriguez CI, Cheng JG, Liu L, Stewart CL.
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| Endocrinology 145(3):1410-8. Epub 2003 Dec 4. 2004
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| 17 | COCH, DFNA9
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| Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
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| Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC.
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| J Med Genet 40(7):479-86. 2003
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| 18 | COCH, DFNA9
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| Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
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| Usami S, Takahashi K, Yuge I, Ohtsuka A, Namba A, Abe S, Fransen E, Patthy L, Otting G, Van Camp G.
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| Eur J Hum Genet 11(10):744-8. 2003
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| 19 | COCH, DFNA9
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| Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
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| : Grabski R, Szul T, Sasaki T, Timpl R, Mayne R, Hicks B, Sztul E.
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| Hum Genet 113(5):406-16. Epub 2003 Aug 20. 2003
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| 20 | COCH, DFNA9
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| A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and the Netherlands bearing the P51S mutation.
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| Fransen E, Verstreken M, Bom SJH, Lemaire F, Kemperman MH, De Kok YJM, Wuyts FL, Verhagen WJM, Huygen PLM, McGuir WT, Smith RJH, van Maldergem L, Declau F, Cremers CWRJ, van de Heyning PH, Cremers FPM, van Camp G.
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| J Med Genet 38 : 61-64. 2001
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| 21 | COCH, DFNA9
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| Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
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| Robertson NG, Resendes BL, Lin JS, Lee C, Aster JC, Adams JC, Morton CC.
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| Hum Mol Genet 10(22):2493-500. 2001
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| 22 | COCH, DFNA9
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| NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.
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| Liepinsh E, Trexler M, Kaikkonen A, Weigelt J, Banyai L, Patthy L, Otting G.
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| EMBO J 20(19):5347-53. 2001
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| 23 | COCH, DFNA9
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| Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).
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| Verhagen WI, Bom SJ, Huygen PL, Fransen E, Van Camp G, Cremers CW.
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| Arch Neurol 57(7):1045-7. 2000
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| 24 | COCH, DFNA9
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| A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
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| De Kok YJ, et al.
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| Hum Mol Genet 8 : 361-366. 1999
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| 25 | COCH, DFNA9
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| High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.
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| Fransen E, et al.
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| Hum Mol Genet 8(8):1425-9. 1999
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| 26 | COCH, DFNA9
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| Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
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| Robertson NG, et al.
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| Nat Genet 20 : 299-303. 1998
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| 27 | COCH, DFNA9
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| Mapping and characterization of a novel cochlear gene in human and in mouse : a positional candidate gene for a deafness disorder, DFNA9.
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| Robertson NG, Skvorak AB, Yin Y, Weremowicz S, Johnson KR, Kovatch KA, Battey JF, Bieber FR, Morton CC.
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| Genomics 46(3):345-54. 1997
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| 28 | COCH, KATNAL1
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| Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
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| Robertson NG, et al.
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| Genomics 23 : 42-50. 1994
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