| 1 | ACTG1, DFNA20
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| Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
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| Park G, Gim J, Kim AR, Han KH, Kim HS, Oh SH, Park T, Park WY, Choi B.
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| BMC Genomics 14:191. doi: 10.1186/1471-2164-14-191.
2013
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| 2 | ACTG1, DFNA20
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| Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
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| de Heer AM, Huygen PL, Collin RW, Oostrik J, Kremer H, Cremers CW.
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| Ann Otol Rhinol Laryngol 118(5):382-90.
2009
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| 3 | ACTG1, DFNA20
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| Allele-specific Effects of Human Deafness {gamma}-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction.
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| Bryan KE, Rubenstein PA.
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| J Biol Chem 284(27):18260-9. Epub 2009 May 6.
2009
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| 4 | ACTG1, DFNA20
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| In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
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| Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA.
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| Hum Mol Genet 18(16):3075-89. Epub 2009 May 28.
2009
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| 5 | ACTG1, DFNA20
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| Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
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| Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu J, Wang Q, Liu M.
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| J Genet Genomics 35(9):553-8.
2008
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| 6 | ACTG1, DFNA20
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| Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function.
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| Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA.
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| J Biol Chem 281(29):20129-39. Epub 2006 May 10. 2006
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| 7 | ACTG1, DFNA20
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| A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
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| Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L.
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| Eur J Hum Genet 14(10):1097-105. Epub 2006 Jun 14. 2006
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| 8 | ACTG1, DFNA20
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| A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
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| van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H.
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| J Med Genet 40(12):879-84. 2003
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| 9 | ACTG1, DFNA20
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| Mutations in the gamma-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26).
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| Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH.
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| Am J Hum Genet 73(6):1082-91. Epub 2003 Sep 16. 2003
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| 10 | DFNA20
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| A New Locus for Late-Onset, Progressive, Hereditary Hearing Loss DFNA20 Maps to 17q25.
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| Morell RJ, Friderici KH, Wei S, Elfenbein JL, Friedman TB, Fisher RA.
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| Genomics 63(1):1-6. 2000
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| 11 | DFNA20
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| A new locus for late-onset, progressive, hereditary hearing loss (DFNA20) maps to 17q25.(abstract)
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| Friderici RJ, et Al.
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| Am J Hum Genet 65(supl) : A295. 1999
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