-
1
-
-
0036363375
-
The Colorado newborn hearing screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening
-
Mehl AL, Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002; 109: E7.
-
(2002)
Pediatrics
, vol.109
, pp. E7
-
-
Mehl, A.L.1
Thomson, V.2
-
2
-
-
0027180952
-
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
-
Marazita ML, Ploughman LM, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993; 46: 486-491.
-
(1993)
Am J Med Genet
, vol.46
, pp. 486-491
-
-
Marazita, M.L.1
Ploughman, L.M.2
Rawlings, B.3
-
3
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991; 630: 16-31.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
4
-
-
0029364852
-
Risk factors for hearing disorders: Epidemiologic evidence of change over time in the UK
-
Davis A, Wood S, Healy R, et al. Risk factors for hearing disorders: epidemiologic evidence of change over time in the UK. J Am Acad Audiol 1995; 6: 365-370.
-
(1995)
J Am Acad Audiol
, vol.6
, pp. 365-370
-
-
Davis, A.1
Wood, S.2
Healy, R.3
-
5
-
-
0026695288
-
The gene for an inherited form of deafness maps to chromosome 5q31
-
Leon PE, Raventos H, Lynch E, et al. The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA 1992; 89: 5181-5184.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 5181-5184
-
-
Leon, P.E.1
Raventos, H.2
Lynch, E.3
-
6
-
-
85056539981
-
-
Hereditary Hearing Loss Homepage, http://webhost.ua.ac.be/hhh.
-
-
-
-
7
-
-
0032790899
-
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families
-
Maestrini E, Korge BP, Ocana-Sierra J, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet 1999; 8: 1237-1243.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1237-1243
-
-
Maestrini, E.1
Korge, B.P.2
Ocana-Sierra, J.3
-
8
-
-
0038701033
-
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitisichthyosis- deafness (KID) syndrome
-
Alvarez A, del Castillo I, Pera A, et al. De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitisichthyosis- deafness (KID) syndrome. Am J Med Genet 2003; 117A: 89-91.
-
(2003)
Am J Med Genet
, vol.117A
, pp. 89-91
-
-
Alvarez, A.1
del Castillo, I.2
Pera, A.3
-
9
-
-
0034099846
-
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
-
Heathcote K, Syrris P, Carter ND, et al. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 2000; 37: 50-51.
-
(2000)
J Med Genet
, vol.37
, pp. 50-51
-
-
Heathcote, K.1
Syrris, P.2
Carter, N.D.3
-
10
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
-
Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001; 10: 2501-2508.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.N.1
Van Camp, G.2
Bom, S.J.3
-
11
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17: 411-422.
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
-
12
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
Inoue H, Tanizawa Y, Wasson J, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998; 20: 143-148.
-
(1998)
Nat Genet
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
-
13
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998; 18: 215-217.
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
-
14
-
-
0036626684
-
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
-
Ahmed ZM, Smith TN, Riazuddin S, et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 2002; 110: 527-531.
-
(2002)
Hum Genet
, vol.110
, pp. 527-531
-
-
Ahmed, Z.M.1
Smith, T.N.2
Riazuddin, S.3
-
15
-
-
0033822063
-
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
-
Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26: 56-60.
-
(2000)
Nat Genet
, vol.26
, pp. 56-60
-
-
Bitner-Glindzicz, M.1
Lindley, K.J.2
Rutland, P.3
-
16
-
-
0030805901
-
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1
-
Liu XZ, Newton VE, Steel KP, et al. Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum Mutat 1997; 10: 168-170.
-
(1997)
Hum Mutat
, vol.10
, pp. 168-170
-
-
Liu, X.Z.1
Newton, V.E.2
Steel, K.P.3
-
17
-
-
0033816925
-
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
-
Verpy E, Leibovici M, Zwaenepoel I, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26: 51-55.
-
(2000)
Nat Genet
, vol.26
, pp. 51-55
-
-
Verpy, E.1
Leibovici, M.2
Zwaenepoel, I.3
-
18
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374: 60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
-
19
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
Weil D, Kussel P, Blanchard S, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16: 191-193.
-
(1997)
Nat Genet
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
-
20
-
-
0033610019
-
The benefits of recycling
-
Steel K. The benefits of recycling. Science 1999; 285: 1363-1364.
-
(1999)
Science
, vol.285
, pp. 1363-1364
-
-
Steel, K.1
-
21
-
-
0028818611
-
Comparison of ion transport mechanisms between vestibular dark cells and strial marginal cells
-
Wangemann P. Comparison of ion transport mechanisms between vestibular dark cells and strial marginal cells. Hear Res 1995; 90: 149-157.
-
(1995)
Hear Res
, vol.90
, pp. 149-157
-
-
Wangemann, P.1
-
22
-
-
0034469456
-
Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness
-
Kikuchi T, Adams JC, Miyabe Y, et al. Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Med Electron Microsc 2000; 33: 51-56.
-
(2000)
Med Electron Microsc
, vol.33
, pp. 51-56
-
-
Kikuchi, T.1
Adams, J.C.2
Miyabe, Y.3
-
23
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Kikuchi T, Kimura RS, Paul DL, et al. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 1995; 191: 101-118.
-
(1995)
Anat Embryol (Berl)
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
-
24
-
-
0031795109
-
Expression of the gap-junction connexins 26 and 30 in the rat cochlea
-
Lautermann J, ten Cate WJ, Altenhoff P, et al. Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 1998; 294: 415-420.
-
(1998)
Cell Tissue Res
, vol.294
, pp. 415-420
-
-
Lautermann, J.1
ten Cate, W.J.2
Altenhoff, P.3
-
25
-
-
12344304163
-
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness
-
Beltramello M, Piazza V, Bukauskas FF, et al. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 2005; 7: 63-69.
-
(2005)
Nat Cell Biol
, vol.7
, pp. 63-69
-
-
Beltramello, M.1
Piazza, V.2
Bukauskas, F.F.3
-
26
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-1609.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
-
27
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
-
28
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
Green GE, Scott DA, McDonald JM, et al. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999; 281: 2211-2216.
-
(1999)
JAMA
, vol.281
, pp. 2211-2216
-
-
Green, G.E.1
Scott, D.A.2
McDonald, J.M.3
-
29
-
-
0038237455
-
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
-
Ohtsuka A, Yuge I, Kimura S, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003; 112: 329-333.
-
(2003)
Hum Genet
, vol.112
, pp. 329-333
-
-
Ohtsuka, A.1
Yuge, I.2
Kimura, S.3
-
30
-
-
0028555358
-
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
-
Chaib H, Lina-Granade G, Guilford P, et al. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 1994; 3: 2219-2222.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2219-2222
-
-
Chaib, H.1
Lina-Granade, G.2
Guilford, P.3
-
31
-
-
0034198467
-
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
-
Kelsell DP, Wilgoss AL, Richard G, et al. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 469-472.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 469-472
-
-
Kelsell, D.P.1
Wilgoss, A.L.2
Richard, G.3
-
32
-
-
0034961003
-
Trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation
-
Rouan F, White TW, Brown N, et al. Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci 2001; 114: 2105-2113.
-
(2001)
J Cell Sci
, vol.114
, pp. 2105-2113
-
-
Rouan, F.1
White, T.W.2
Brown, N.3
-
33
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Van Laer L, Coucke P, Mueller RF, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001; 38: 515-518.
-
(2001)
J Med Genet
, vol.38
, pp. 515-518
-
-
Van Laer, L.1
Coucke, P.2
Mueller, R.F.3
-
34
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-2177.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
-
35
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-799.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 792-799
-
-
Kelley, P.M.1
Harris, D.J.2
Comer, B.C.3
-
36
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000; 37: 41-43.
-
(2000)
J Med Genet
, vol.37
, pp. 41-43
-
-
Abe, S.1
Usami, S.2
Shinkawa, H.3
-
37
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, et al. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000; 110: 1535-1538.
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
-
38
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 2000; 90: 141-145.
-
(2000)
Am J Med Genet
, vol.90
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
-
39
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998; 339: 1500-1505.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
-
40
-
-
0033615567
-
High frequency of the deafnessassociated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
-
Sobe T, Erlich P, Berry A, et al. High frequency of the deafnessassociated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 1999; 86: 499-500.
-
(1999)
Am J Med Genet
, vol.86
, pp. 499-500
-
-
Sobe, T.1
Erlich, P.2
Berry, A.3
-
41
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
-
Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998; 338: 548-550.
-
(1998)
N Engl J Med
, vol.338
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
42
-
-
0032559798
-
Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
-
Gabriel HD, Jung D, Butzler C, et al. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 1998; 140: 1453-1461.
-
(1998)
J Cell Biol
, vol.140
, pp. 1453-1461
-
-
Gabriel, H.D.1
Jung, D.2
Butzler, C.3
-
43
-
-
0037046804
-
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
-
Cohen-Salmon M, Ott T, Michel V, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 2002; 12: 1106-1111.
-
(2002)
Curr Biol
, vol.12
, pp. 1106-1111
-
-
Cohen-Salmon, M.1
Ott, T.2
Michel, V.3
-
44
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
del Castillo I, Villamar M, Moreno-Pelayo MA, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002; 346: 243-249.
-
(2002)
N Engl J Med
, vol.346
, pp. 243-249
-
-
del Castillo, I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
-
45
-
-
22244489070
-
Related articles, Links a novel deletion involving the connexin-30 gene, del (GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
-
del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, et al. Related articles, Links a novel deletion involving the connexin-30 gene, del (GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005; 42(7): 588-594.
-
(2005)
J Med Genet
, vol.42
, Issue.7
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Alvarez, A.3
-
46
-
-
0038351949
-
Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice
-
Ahmad S, Chen S, Sun J, et al. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun 2003; 307: 362-368.
-
(2003)
Biochem Biophys Res Commun
, vol.307
, pp. 362-368
-
-
Ahmad, S.1
Chen, S.2
Sun, J.3
-
47
-
-
12144287717
-
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
-
Cryns K, Orzan E, Murgia A, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 2004; 41: 147-154.
-
(2004)
J Med Genet
, vol.41
, pp. 147-154
-
-
Cryns, K.1
Orzan, E.2
Murgia, A.3
-
48
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A, Wagner CA, D’Ambrosio L, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999; 23: 16-18.
-
(1999)
Nat Genet
, vol.23
, pp. 16-18
-
-
Grifa, A.1
Wagner, C.A.2
D’Ambrosio, L.3
-
49
-
-
0342572603
-
Mutations in GJB6 cause hidrotic ectodermal dysplasia
-
Lamartine J, Munhoz Essenfelder G, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26: 142-144.
-
(2000)
Nat Genet
, vol.26
, pp. 142-144
-
-
Lamartine, J.1
Munhoz Essenfelder, G.2
Kibar, Z.3
-
50
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998; 20: 370-373.
-
(1998)
Nat Genet
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
-
51
-
-
0034018259
-
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
-
Liu XZ, Xia XJ, Xu LR, et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000; 9: 63-67.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 63-67
-
-
Liu, X.Z.1
Xia, X.J.2
Xu, L.R.3
-
52
-
-
0031722150
-
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
-
Richard G, White TW, Smith LE, et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103: 393-399.
-
(1998)
Hum Genet
, vol.103
, pp. 393-399
-
-
Richard, G.1
White, T.W.2
Smith, L.E.3
-
53
-
-
0035871208
-
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
-
Lopez-Bigas N, Olive M, Rabionet R, et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 2001; 10: 947-952.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 947-952
-
-
Lopez-Bigas, N.1
Olive, M.2
Rabionet, R.3
-
54
-
-
0034744106
-
Mutation analysis in Chariot-Marie Tooth disease type 1: Point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity
-
Young P, Grote K, Kuhlenbaumer G, et al. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. J Neurol 2001; 248: 410-415.
-
(2001)
J Neurol
, vol.248
, pp. 410-415
-
-
Young, P.1
Grote, K.2
Kuhlenbaumer, G.3
-
55
-
-
0035869426
-
Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation
-
Plum A, Winterhager E, Pesch J, et al. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. Dev Biol 2001; 231: 334-347.
-
(2001)
Dev Biol
, vol.231
, pp. 334-347
-
-
Plum, A.1
Winterhager, E.2
Pesch, J.3
-
56
-
-
0031943571
-
Regulation of the movement of solutes across tight junctions
-
Madara JL. Regulation of the movement of solutes across tight junctions. Annu Rev Physiol 1998; 60: 143-159.
-
(1998)
Annu Rev Physiol
, vol.60
, pp. 143-159
-
-
Madara, J.L.1
-
57
-
-
0027744129
-
Occludin: A novel integral membrane protein localizing at tight junctions
-
Furuse M, Hirase T, Itoh M, et al. Occludin: a novel integral membrane protein localizing at tight junctions. J Cell Biol 1993; 123: 1777-1788.
-
(1993)
J Cell Biol
, vol.123
, pp. 1777-1788
-
-
Furuse, M.1
Hirase, T.2
Itoh, M.3
-
58
-
-
0034524084
-
The structure and function of claudins, cell adhesion molecules at tight junctions
-
Tsukita S, Furuse M. The structure and function of claudins, cell adhesion molecules at tight junctions. Ann N Y Acad Sci 2000; 915: 129-135.
-
(2000)
Ann N Y Acad Sci
, vol.915
, pp. 129-135
-
-
Tsukita, S.1
Furuse, M.2
-
59
-
-
2642614521
-
Junctional adhesion molecule, a novel member of the immunoglobulin superfamily that distributes at intercellular junctions and modulates monocyte transmigration
-
Martin-Padura I, Lostaglio S, Schneemann M, et al. Junctional adhesion molecule, a novel member of the immunoglobulin superfamily that distributes at intercellular junctions and modulates monocyte transmigration. J Cell Biol 1998; 142: 117-127.
-
(1998)
J Cell Biol
, vol.142
, pp. 117-127
-
-
Martin-Padura, I.1
Lostaglio, S.2
Schneemann, M.3
-
60
-
-
17744380785
-
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
-
Wilcox ER, Burton QL, Naz S, et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001; 104: 165-172.
-
(2001)
Cell
, vol.104
, pp. 165-172
-
-
Wilcox, E.R.1
Burton, Q.L.2
Naz, S.3
-
61
-
-
10744222330
-
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
-
Ben-Yosef T, Belyantseva IA, Saunders TL, et al. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 2003; 12: 2049-2061.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2049-2061
-
-
Ben-Yosef, T.1
Belyantseva, I.A.2
Saunders, T.L.3
-
62
-
-
0034636056
-
KCNQ4, a K_ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
-
Kharkovets T, Hardelin JP, Safieddine S, et al. KCNQ4, a K_ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc Natl Acad Sci USA 2000; 97: 4333-4338.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 4333-4338
-
-
Kharkovets, T.1
Hardelin, J.P.2
Safieddine, S.3
-
63
-
-
0034693298
-
Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2
-
Beisel KW, Nelson NC, Delimont DC, et al. Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2. Brain Res Mol Brain Res 2000; 82: 137-149.
-
(2000)
Brain Res Mol Brain Res
, vol.82
, pp. 137-149
-
-
Beisel, K.W.1
Nelson, N.C.2
Delimont, D.C.3
-
64
-
-
0031894359
-
Radiological malformations of the ear in Pendred syndrome
-
Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998; 53: 268-273.
-
(1998)
Clin Radiol
, vol.53
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
-
65
-
-
0033578352
-
Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear
-
Everett LA, Morsli H, Wu DK, et al. Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 1999; 96: 9727-9732.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 9727-9732
-
-
Everett, L.A.1
Morsli, H.2
Wu, D.K.3
-
66
-
-
1242314860
-
Enlarged endolymphatic duct and sac syndrome: Relationship between MR findings and genotype of mutation in Pendred syndrome gene
-
Naganawa S, Koshikawa T, Fukatsu H, et al. Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. Magn Reson Imaging 2004; 22: 25-30.
-
(2004)
Magn Reson Imaging
, vol.22
, pp. 25-30
-
-
Naganawa, S.1
Koshikawa, T.2
Fukatsu, H.3
-
67
-
-
3042807902
-
Genetic insights into the morphogenesis of inner ear hair cells
-
Frolenkov GI, Belyantseva IA, Friedman TB, et al. Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet 2004; 5: 489-498.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 489-498
-
-
Frolenkov, G.I.1
Belyantseva, I.A.2
Friedman, T.B.3
-
68
-
-
2342421512
-
Cadherin 23 is a component of the tip link in hair-cell stereocilia
-
Siemens J, Lillo C, Dumont RA, et al. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature 2004; 428: 950-955.
-
(2004)
Nature
, vol.428
, pp. 950-955
-
-
Siemens, J.1
Lillo, C.2
Dumont, R.A.3
-
69
-
-
84905556082
-
Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells
-
Sollner C, Rauch GJ, Siemens J, et al. Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells. Nature 2004; 428: 955-959.
-
(2004)
Nature
, vol.428
, pp. 955-959
-
-
Sollner, C.1
Rauch, G.J.2
Siemens, J.3
-
70
-
-
0035168168
-
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
-
Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 2001; 68: 26-37.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 26-37
-
-
Bork, J.M.1
Peters, L.M.2
Riazuddin, S.3
-
71
-
-
0035168151
-
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
-
Di Palma F, Holme RH, Bryda EC, et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet 2001; 27: 103-107.
-
(2001)
Nat Genet
, vol.27
, pp. 103-107
-
-
Di Palma, F.1
Holme, R.H.2
Bryda, E.C.3
-
72
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
Bolz H, von Brederlow B, Ramirez A, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001; 27: 108-112.
-
(2001)
Nat Genet
, vol.27
, pp. 108-112
-
-
Bolz, H.1
von Brederlow, B.2
Ramirez, A.3
-
73
-
-
0348013128
-
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
-
Ahmed ZM, Riazuddin S, Ahmad J, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 2003; 12: 3215-3223.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3215-3223
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Ahmad, J.3
-
74
-
-
0035421436
-
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
-
Alagramam KN, Yuan H, Kuehn MH, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001; 10: 1709-1718.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1709-1718
-
-
Alagramam, K.N.1
Yuan, H.2
Kuehn, M.H.3
-
75
-
-
0034968358
-
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
-
Ahmed ZM, Riazuddin S, Bernstein SL, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001; 69: 25-34.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 25-34
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Bernstein, S.L.3
-
76
-
-
0034307667
-
Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer
-
Alagramam KN, Zahorsky-Reeves J, Wright CG, et al. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear Res 2000; 148: 181-191.
-
(2000)
Hear Res
, vol.148
, pp. 181-191
-
-
Alagramam, K.N.1
Zahorsky-Reeves, J.2
Wright, C.G.3
-
77
-
-
0038361003
-
A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15
-
Hampton LL, Wright CG, Alagramam KN, et al. A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hear Res 2003; 180: 67-75.
-
(2003)
Hear Res
, vol.180
, pp. 67-75
-
-
Hampton, L.L.1
Wright, C.G.2
Alagramam, K.N.3
-
78
-
-
0242509950
-
Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration
-
Libby RT, Kitamoto J, Holme RH, et al. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res 2003; 77: 731-739.
-
(2003)
Exp Eye Res
, vol.77
, pp. 731-739
-
-
Libby, R.T.1
Kitamoto, J.2
Holme, R.H.3
-
79
-
-
12244277402
-
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
-
Boeda B, El-Amraoui A, Bahloul A, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. Embo J 2002; 21: 6689-6699.
-
(2002)
Embo J
, vol.21
, pp. 6689-6699
-
-
Boeda, B.1
El-Amraoui, A.2
Bahloul, A.3
-
80
-
-
0037069346
-
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
-
Siemens J, Kazmierczak P, Reynolds A, et al. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci USA 2002; 99: 14946-14951.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 14946-14951
-
-
Siemens, J.1
Kazmierczak, P.2
Reynolds, A.3
-
81
-
-
0037341463
-
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
-
Weil D, El-Amraoui A, Masmoudi S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003; 12: 463-471.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 463-471
-
-
Weil, D.1
El-Amraoui, A.2
Masmoudi, S.3
-
82
-
-
0043168114
-
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
-
Mburu P, Mustapha M, Varela A, et al. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 2003; 34: 421-428.
-
(2003)
Nat Genet
, vol.34
, pp. 421-428
-
-
Mburu, P.1
Mustapha, M.2
Varela, A.3
-
85
-
-
0034887805
-
MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
-
Melchionda S, Ahituv N, Bisceglia L, et al. MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 2001; 69: 635-640.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 635-640
-
-
Melchionda, S.1
Ahituv, N.2
Bisceglia, L.3
-
86
-
-
0037730096
-
Mutations of MYO6 are associated with recessive deafness, DFNB37
-
Ahmed ZM, Morell RJ, Riazuddin S, et al. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 2003; 72: 1315-1322.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1315-1322
-
-
Ahmed, Z.M.1
Morell, R.J.2
Riazuddin, S.3
-
87
-
-
0032577293
-
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
-
Wang A, Liang Y, Fridell RA, et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1447-1451.
-
(1998)
Science
, vol.280
, pp. 1447-1451
-
-
Wang, A.1
Liang, Y.2
Fridell, R.A.3
-
88
-
-
0030751937
-
Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice
-
Avraham KB, Hasson T, Sobe T, et al. Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell’s waltzer mice. Hum Mol Genet 1997; 6: 1225-1231.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1225-1231
-
-
Avraham, K.B.1
Hasson, T.2
Sobe, T.3
-
89
-
-
0028803112
-
The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
-
Avraham KB, Hasson T, Steel KP, et al. The mouse Snell’s waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. Nat Genet 1995; 11: 369-375.
-
(1995)
Nat Genet
, vol.11
, pp. 369-375
-
-
Avraham, K.B.1
Hasson, T.2
Steel, K.P.3
-
90
-
-
0033569707
-
Role of myosin VI in the differentiation of cochlear hair cells
-
Self T, Sobe T, Copeland NG, et al. Role of myosin VI in the differentiation of cochlear hair cells. Dev Biol 1999; 214: 331-341.
-
(1999)
Dev Biol
, vol.214
, pp. 331-341
-
-
Self, T.1
Sobe, T.2
Copeland, N.G.3
-
91
-
-
1542299042
-
The mechanism of myosin VI translocation and its load-induced anchoring
-
Altman D, Sweeney HL, Spudich JA. The mechanism of myosin VI translocation and its load-induced anchoring. Cell 2004; 116: 737-749.
-
(2004)
Cell
, vol.116
, pp. 737-749
-
-
Altman, D.1
Sweeney, H.L.2
Spudich, J.A.3
-
92
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
Gibson F, Walsh J, Mburu P, et al. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature 1995; 374: 62-64.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
-
93
-
-
0031884319
-
Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
-
Self T, Mahony M, Fleming J, et al. Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells. Development 1998; 125: 557-566.
-
(1998)
Development
, vol.125
, pp. 557-566
-
-
Self, T.1
Mahony, M.2
Fleming, J.3
-
94
-
-
0345133276
-
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle
-
Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci USA 2003; 100: 13958-13963.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 13958-13963
-
-
Belyantseva, I.A.1
Boger, E.T.2
Friedman, T.B.3
-
95
-
-
0033764817
-
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
-
Lalwani AK, Goldstein JA, Kelley MJ, et al. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000; 67: 1121-1128.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1121-1128
-
-
Lalwani, A.K.1
Goldstein, J.A.2
Kelley, M.J.3
-
96
-
-
12144286156
-
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
-
Donaudy F, Snoeckx R, Pfister M, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet 2004; 74: 770-776.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 770-776
-
-
Donaudy, F.1
Snoeckx, R.2
Pfister, M.3
-
97
-
-
0034669943
-
Autosomaldominant giant platelet syndromes: A hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13
-
Toren A, Rozenfeld-Granot G, Rocca B, et al. Autosomaldominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood 2000; 96: 3447-3451.
-
(2000)
Blood
, vol.96
, pp. 3447-3451
-
-
Toren, A.1
Rozenfeld-Granot, G.2
Rocca, B.3
-
98
-
-
0037677643
-
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss
-
Donaudy F, Ferrara A, Esposito L, et al. Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003; 72: 1571-1577.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1571-1577
-
-
Donaudy, F.1
Ferrara, A.2
Esposito, L.3
-
99
-
-
0037188476
-
From flies’ eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
-
Walsh T, Walsh V, Vreugde S, et al. From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci USA 2002; 99: 7518-7523.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 7518-7523
-
-
Walsh, T.1
Walsh, V.2
Vreugde, S.3
-
100
-
-
0035071665
-
Functional specificity of actin isoforms
-
Khaitlina SY. Functional specificity of actin isoforms. Int Rev Cytol 2001; 202: 35-98.
-
(2001)
Int Rev Cytol
, vol.202
, pp. 35-98
-
-
Khaitlina, S.Y.1
-
101
-
-
0343307091
-
Sorting of actin isoforms in chicken auditory hair cells
-
Hofer D, Ness W, Drenckhahn D. Sorting of actin isoforms in chicken auditory hair cells. J Cell Sci 1997;110(Pt 6): 765-770.
-
(1997)
J Cell Sci
, vol.110
, pp. 765-770
-
-
Hofer, D.1
Ness, W.2
Drenckhahn, D.3
-
102
-
-
0242607215
-
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)
-
Zhu M, Yang T, Wei S, et al. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet 2003; 73: 1082-1091.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1082-1091
-
-
Zhu, M.1
Yang, T.2
Wei, S.3
-
103
-
-
1642361261
-
Actin polymerizationdriven molecular movement of mDia1 in living cells
-
Higashida C, Miyoshi T, Fujita A, et al. Actin polymerizationdriven molecular movement of mDia1 in living cells. Science 2004; 303: 2007-2010.
-
(2004)
Science
, vol.303
, pp. 2007-2010
-
-
Higashida, C.1
Miyoshi, T.2
Fujita, A.3
-
104
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
-
Lynch ED, Lee MK, Morrow JE, et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315-1318.
-
(1997)
Science
, vol.278
, pp. 1315-1318
-
-
Lynch, E.D.1
Lee, M.K.2
Morrow, J.E.3
-
105
-
-
0034604349
-
The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins
-
Zheng L, Sekerkova G, Vranich K, et al. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 2000; 102: 377-385.
-
(2000)
Cell
, vol.102
, pp. 377-385
-
-
Zheng, L.1
Sekerkova, G.2
Vranich, K.3
-
106
-
-
0346849715
-
Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo
-
Loomis PA, Zheng L, Sekerkova G, et al. Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo. J Cell Biol 2003; 163: 1045-1055.
-
(2003)
J Cell Biol
, vol.163
, pp. 1045-1055
-
-
Loomis, P.A.1
Zheng, L.2
Sekerkova, G.3
-
107
-
-
2942593267
-
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
-
Naz S, Griffith AJ, Riazuddin S, et al. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet 2004; 41: 591-595.
-
(2004)
J Med Genet
, vol.41
, pp. 591-595
-
-
Naz, S.1
Griffith, A.J.2
Riazuddin, S.3
-
108
-
-
0021915137
-
Evoked mechanical responses of isolated cochlear outer hair cells
-
Brownell WE, Bader CR, Bertrand D, et al. Evoked mechanical responses of isolated cochlear outer hair cells. Science 1985; 227: 194-196.
-
(1985)
Science
, vol.227
, pp. 194-196
-
-
Brownell, W.E.1
Bader, C.R.2
Bertrand, D.3
-
109
-
-
0036481993
-
Prestin, a new type of motor protein
-
Dallos P, Fakler B. Prestin, a new type of motor protein. Nat Rev Mol Cell Biol 2002; 3: 104-111.
-
(2002)
Nat Rev Mol Cell Biol
, vol.3
, pp. 104-111
-
-
Dallos, P.1
Fakler, B.2
-
110
-
-
12444302838
-
Prestin, a cochlear motor protein, is defective in non-sndromic hearing loss
-
Liu XZ, Ouyang XM, Zia XY, et al. Prestin, a cochlear motor protein, is defective in non-sndromic hearing loss. Hum Mol Genet 2003; 12: 1155-1162.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1155-1162
-
-
Liu, X.Z.1
Ouyang, X.M.2
Zia, X.Y.3
-
111
-
-
26444476059
-
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochler motor proein prestin, precludes its involvement in hereditary hearing loss
-
109a. Tang HY, Xia A, Oghalai JS, Pereira FA, Alford RL. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochler motor proein prestin, precludes its involvement in hereditary hearing loss. BMC Med Genet 2005; 6: 30.
-
(2005)
BMC Med Genet
, vol.6
, pp. 30
-
-
Tang, H.Y.1
Xia, A.2
Oghalai, J.S.3
Pereira, F.A.4
Alford, R.L.5
-
112
-
-
0037136582
-
Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier
-
Liberman MC, Gao J, He DZ, et al. Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature 2002; 419: 300-304.
-
(2002)
Nature
, vol.419
, pp. 300-304
-
-
Liberman, M.C.1
Gao, J.2
He, D.Z.3
-
113
-
-
0028169393
-
Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening
-
Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, et al. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics 1994; 23: 42-50.
-
(1994)
Genomics
, vol.23
, pp. 42-50
-
-
Robertson, N.G.1
Khetarpal, U.2
Gutierrez-Espeleta, G.A.3
-
114
-
-
0035953042
-
Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein
-
Ikezono T, Omori A, Ichinose S, et al. Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein. Biochim Biophys Acta 2001; 1535: 258-265.
-
(2001)
Biochim Biophys Acta
, vol.1535
, pp. 258-265
-
-
Ikezono, T.1
Omori, A.2
Ichinose, S.3
-
115
-
-
0035888616
-
Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9
-
Robertson NG, Resendes BL, Lin JS, et al. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Mol Genet 2001; 10: 2493-2500.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2493-2500
-
-
Robertson, N.G.1
Resendes, B.L.2
Lin, J.S.3
-
116
-
-
70350542120
-
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
-
Fransen E, Verstreken M, Bom SJ, et al. A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation. J Med Genet 2001; 38: 61-65.
-
(2001)
J Med Genet
, vol.38
, pp. 61-65
-
-
Fransen, E.1
Verstreken, M.2
Bom, S.J.3
-
117
-
-
0032755733
-
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
-
McGuirt WT, Prasad SD, Griffith AJ, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 1999; 23: 413-419.
-
(1999)
Nat Genet
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
-
118
-
-
0030958929
-
Otospondylo- megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
-
van Steensel MA, Buma P, De Waal Malefijt MC, et al. Otospondylo- megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 1997; 70: 315-323.
-
(1997)
Am J Med Genet
, vol.70
, pp. 315-323
-
-
van Steensel, M.A.1
Buma, P.2
De Waal Malefijt, M.C.3
-
119
-
-
2342548657
-
Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear
-
Jovine L, Park J, Wassarman PM. Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. BMC Cell Biol 2002; 3: 28.
-
(2002)
BMC Cell Biol
, vol.3
, pp. 28
-
-
Jovine, L.1
Park, J.2
Wassarman, P.M.3
-
120
-
-
20244389145
-
Mutations in a new gene encoding a protein of the hair bundle cause nonsyndromic deafness at the DFNB16 locus
-
Verpy E, Masmoudi S, Zwaenepoel I, et al. Mutations in a new gene encoding a protein of the hair bundle cause nonsyndromic deafness at the DFNB16 locus. Nat Genet 2001; 29: 345-349.
-
(2001)
Nat Genet
, vol.29
, pp. 345-349
-
-
Verpy, E.1
Masmoudi, S.2
Zwaenepoel, I.3
-
121
-
-
4244083959
-
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22
-
Zwaenepoel I, Mustapha M, Leibovici M, et al. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci USA 2002; 99: 6240-6245.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 6240-6245
-
-
Zwaenepoel, I.1
Mustapha, M.2
Leibovici, M.3
-
122
-
-
17344364928
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998; 19: 60-62.
-
(1998)
Nat Genet
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Laer, L.2
Kirschhofer, K.3
-
123
-
-
0032977996
-
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
-
Mustapha M, Weil D, Chardenoux S, et al. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 1999; 8: 409-412.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 409-412
-
-
Mustapha, M.1
Weil, D.2
Chardenoux, S.3
-
124
-
-
0033637206
-
A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback
-
Legan PK, Lukashkina VA, Goodyear RJ, et al. A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 2000; 28: 273-285.
-
(2000)
Neuron
, vol.28
, pp. 273-285
-
-
Legan, P.K.1
Lukashkina, V.A.2
Goodyear, R.J.3
-
125
-
-
0035253743
-
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
-
Wayne S, Robertson NG, DeClau F, et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 2001; 10: 195-200.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 195-200
-
-
Wayne, S.1
Robertson, N.G.2
DeClau, F.3
-
126
-
-
9844262802
-
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
-
Abdelhak S, Kalatzis V, Heilig R, et al. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 1997; 6: 2247-2255.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2247-2255
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
-
127
-
-
0027616283
-
POU-domain proteins: Structure and function of developmental regulators
-
Wegner M, Drolet DW, Rosenfeld MG. POU-domain proteins: structure and function of developmental regulators. Curr Opin Cell Biol 1993; 5: 488-498.
-
(1993)
Curr Opin Cell Biol
, vol.5
, pp. 488-498
-
-
Wegner, M.1
Drolet, D.W.2
Rosenfeld, M.G.3
-
128
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995; 267: 685-688.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
de Kok, Y.J.1
van der Maarel, S.M.2
Bitner-Glindzicz, M.3
-
129
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava O, Morell R, Lynch ED, et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 1998; 279: 1950-1954.
-
(1998)
Science
, vol.279
, pp. 1950-1954
-
-
Vahava, O.1
Morell, R.2
Lynch, E.D.3
-
130
-
-
0033610073
-
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness
-
Minowa O, Ikeda K, Sugitani Y, et al. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 1999; 285: 1408-1411.
-
(1999)
Science
, vol.285
, pp. 1408-1411
-
-
Minowa, O.1
Ikeda, K.2
Sugitani, Y.3
-
131
-
-
0031833596
-
Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule
-
Phippard D, Heydemann A, Lechner M, et al. Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule. Hear Res 1998; 120: 77-85.
-
(1998)
Hear Res
, vol.120
, pp. 77-85
-
-
Phippard, D.1
Heydemann, A.2
Lechner, M.3
-
132
-
-
0033565422
-
Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear
-
Phippard D, Lu L, Lee D, et al. Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci 1999; 19: 5980-5989.
-
(1999)
J Neurosci
, vol.19
, pp. 5980-5989
-
-
Phippard, D.1
Lu, L.2
Lee, D.3
-
133
-
-
4744376084
-
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene
-
Hertzano R, Montcouquiol M, Rashi-Elkeles S, et al. Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet 2004; 13: 2143-2153.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2143-2153
-
-
Hertzano, R.1
Montcouquiol, M.2
Rashi-Elkeles, S.3
-
134
-
-
0036849301
-
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
-
Peters LM, Anderson DW, Griffith AJ, et al. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet 2002; 11: 2877-2885.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2877-2885
-
-
Peters, L.M.1
Anderson, D.W.2
Griffith, A.J.3
-
135
-
-
0028803173
-
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15
-
van Camp G, Coucke P, Balemans W, et al. Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. Hum Mol Genet 1995; 4: 2159-2163.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2159-2163
-
-
van Camp, G.1
Coucke, P.2
Balemans, W.3
-
136
-
-
17344371515
-
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
-
Van Laer L, Huizing EH, Verstreken M, et al. Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 1998; 20: 194-197.
-
(1998)
Nat Genet
, vol.20
, pp. 194-197
-
-
Van Laer, L.1
Huizing, E.H.2
Verstreken, M.3
-
137
-
-
0141957280
-
A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family
-
Yu C, Meng X, Zhang S, et al. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics 2003; 82: 575-579.
-
(2003)
Genomics
, vol.82
, pp. 575-579
-
-
Yu, C.1
Meng, X.2
Zhang, S.3
-
138
-
-
10744221846
-
A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation
-
Bischoff AM, Luijendijk MW, Huygen PL, et al. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol 2004; 9: 34-46.
-
(2004)
Audiol Neurootol
, vol.9
, pp. 34-46
-
-
Bischoff, A.M.1
Luijendijk, M.W.2
Huygen, P.L.3
-
139
-
-
2942740946
-
DFNA5: Hearing impairment exon instead of hearing impairment gene?
-
Van Laer L, Vrijens K, Thys S, et al. DFNA5: hearing impairment exon instead of hearing impairment gene? J Med Genet 2004; 41: 401-406.
-
(2004)
J Med Genet
, vol.41
, pp. 401-406
-
-
Van Laer, L.1
Vrijens, K.2
Thys, S.3
-
140
-
-
1342263508
-
The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish
-
Busch-Nentwich E, Sollner C, Roehl H, et al. The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish. Development 2004; 131: 943-951.
-
(2004)
Development
, vol.131
, pp. 943-951
-
-
Busch-Nentwich, E.1
Sollner, C.2
Roehl, H.3
-
141
-
-
0028963966
-
Hyaluronic acid as a molecular filter and friction-reducing lubricant in the human inner ear
-
Anniko M, Arnold W. Hyaluronic acid as a molecular filter and friction-reducing lubricant in the human inner ear. ORL J Otorhinolaryngol Relat Spec 1995; 57: 82-86.
-
(1995)
ORL J Otorhinolaryngol Relat Spec
, vol.57
, pp. 82-86
-
-
Anniko, M.1
Arnold, W.2
-
142
-
-
0032947634
-
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
-
Yasunaga S, Grati M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999; 21: 363-369.
-
(1999)
Nat Genet
, vol.21
, pp. 363-369
-
-
Yasunaga, S.1
Grati, M.2
Cohen-Salmon, M.3
-
143
-
-
0035434683
-
A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms
-
Houseman MJ, Jackson AP, Al-Gazali LI, et al. A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. J Med Genet 2001; 38: E25.
-
(2001)
J Med Genet
, vol.38
, pp. E25
-
-
Houseman, M.J.1
Jackson, A.P.2
Al-Gazali, L.I.3
-
144
-
-
0036071451
-
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, et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet 2002; 39: 502-506.
-
(2002)
J Med Genet
, vol.39
, pp. 502-506
-
-
Migliosi, V.1
Modamio-Hoybjor, S.2
Moreno-Pelayo, M.A.3
-
145
-
-
10744230174
-
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)
-
Rodriguez-Ballesteros M, del Castillo FJ, Martin Y, et al. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). Hum Mutat 2003; 22: 451-456.
-
(2003)
Hum Mutat
, vol.22
, pp. 451-456
-
-
Rodriguez-Ballesteros, M.1
del Castillo, F.J.2
Martin, Y.3
-
146
-
-
8744288856
-
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
-
Kim TB, Isaacson B, Sivakumaran TA, et al. A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. J Med Genet 2004; 41: 872-876.
-
(2004)
J Med Genet
, vol.41
, pp. 872-876
-
-
Kim, T.B.1
Isaacson, B.2
Sivakumaran, T.A.3
-
147
-
-
0029811339
-
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
-
Scott DA, Carmi R, Elbedour K, et al. An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet 1996; 59: 385-391.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 385-391
-
-
Scott, D.A.1
Carmi, R.2
Elbedour, K.3
-
148
-
-
0036510053
-
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
-
Kurima K, Peters LM, Yang Y, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 2002; 30: 277-284.
-
(2002)
Nat Genet
, vol.30
, pp. 277-284
-
-
Kurima, K.1
Peters, L.M.2
Yang, Y.3
-
149
-
-
0036509711
-
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
-
Vreugde S, Erven A, Kros CJ, et al. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002; 30: 257-258.
-
(2002)
Nat Genet
, vol.30
, pp. 257-258
-
-
Vreugde, S.1
Erven, A.2
Kros, C.J.3
-
150
-
-
0036667988
-
Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6
-
Mitchem KL, Hibbard E, Beyer LA, et al. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. Hum Mol Genet 2002; 11: 1887-1898.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1887-1898
-
-
Mitchem, K.L.1
Hibbard, E.2
Beyer, L.A.3
-
151
-
-
0035167046
-
Insertion of betasatellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
-
Scott HS, Kudoh J, Wattenhofer M, et al. Insertion of betasatellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 2001; 27: 59-63.
-
(2001)
Nat Genet
, vol.27
, pp. 59-63
-
-
Scott, H.S.1
Kudoh, J.2
Wattenhofer, M.3
-
152
-
-
0036849378
-
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
-
Guipponi M, Vuagniaux G, Wattenhofer M, et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet 2002; 11: 2829-2836.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2829-2836
-
-
Guipponi, M.1
Vuagniaux, G.2
Wattenhofer, M.3
-
153
-
-
0042327815
-
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
-
Lee YJ, Park D, Kim SY, et al. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J Med Genet 2003; 40: 629-631.
-
(2003)
J Med Genet
, vol.40
, pp. 629-631
-
-
Lee, Y.J.1
Park, D.2
Kim, S.Y.3
-
154
-
-
0037361670
-
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
-
Cryns K, Thys S, Van Laer L, et al. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003; 119: 247-256.
-
(2003)
Histochem Cell Biol
, vol.119
, pp. 247-256
-
-
Cryns, K.1
Thys, S.2
Van Laer, L.3
-
155
-
-
0035888617
-
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
-
Young TL, Ives E, Lynch E, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001; 10: 2509-2514.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2509-2514
-
-
Young, T.L.1
Ives, E.2
Lynch, E.3
-
156
-
-
0031761895
-
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
-
Strom TM, Hortnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998; 7: 2021-2028.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 2021-2028
-
-
Strom, T.M.1
Hortnagel, K.2
Hofmann, S.3
-
157
-
-
0000804149
-
Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
-
Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938; 13: 715-718.
-
(1938)
Mayo Clin Proc
, vol.13
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
-
158
-
-
10744222064
-
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
-
Cryns K, Sivakumaran TA, Van den Ouweland JM, et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003; 22: 275-287.
-
(2003)
Hum Mutat
, vol.22
, pp. 275-287
-
-
Cryns, K.1
Sivakumaran, T.A.2
Van Den Ouweland, J.M.3
-
159
-
-
2942731683
-
Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion
-
Ishihara H, Takeda S, Tamura A, et al. Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. Hum Mol Genet 2004; 13: 1159-1170.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1159-1170
-
-
Ishihara, H.1
Takeda, S.2
Tamura, A.3
-
160
-
-
0033058511
-
Mitochondrial deafness mutations reviewed
-
Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum Mutat 1999; 13: 261-270.
-
(1999)
Hum Mutat
, vol.13
, pp. 261-270
-
-
Fischel-Ghodsian, N.1
-
161
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294.
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
-
162
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
-
Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998; 62: 27-35.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barcelo, E.3
-
163
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S, Abe S, Kasai M, et al. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997; 107: 483-490.
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.1
Abe, S.2
Kasai, M.3
-
164
-
-
0347003512
-
Maternally inherited aminoglycosideinduced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
-
Zhao H, Li R, Wang Q, et al. Maternally inherited aminoglycosideinduced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-152.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 139-152
-
-
Zhao, H.1
Li, R.2
Wang, Q.3
-
165
-
-
0029003553
-
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
-
Bacino C, Prezant TR, Bu X, et al. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995; 5: 165-172.
-
(1995)
Pharmacogenetics
, vol.5
, pp. 165-172
-
-
Bacino, C.1
Prezant, T.R.2
Bu, X.3
-
166
-
-
13044279515
-
Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
-
Casano RA, Johnson DF, Bykhovskaya Y, et al. Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am J Otolaryngol 1999; 20: 151-156.
-
(1999)
Am J Otolaryngol
, vol.20
, pp. 151-156
-
-
Casano, R.A.1
Johnson, D.F.2
Bykhovskaya, Y.3
-
168
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994; 3: 243-247.
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
169
-
-
0031962646
-
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
-
Sevior KB, Hatamochi A, Stewart IA, et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998; 75: 179-185.
-
(1998)
Am J Med Genet
, vol.75
, pp. 179-185
-
-
Sevior, K.B.1
Hatamochi, A.2
Stewart, I.A.3
-
170
-
-
15644370475
-
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
-
Jaksch M, Klopstock T, Kurlemann G, et al. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol 1998; 44: 635-640.
-
(1998)
Ann Neurol
, vol.44
, pp. 635-640
-
-
Jaksch, M.1
Klopstock, T.2
Kurlemann, G.3
-
171
-
-
0031784401
-
Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation
-
Schuelke M, Bakker M, Stoltenburg G, et al. Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation. Ann Neurol 1998; 44: 700-704.
-
(1998)
Ann Neurol
, vol.44
, pp. 700-704
-
-
Schuelke, M.1
Bakker, M.2
Stoltenburg, G.3
-
172
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti V, Chariot P, Carella F, et al. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 1995; 4: 1421-1427.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
-
173
-
-
0032958455
-
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
-
Verhoeven K, Ensink RJ, Tiranti V, et al. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 1999; 7: 45-51.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 45-51
-
-
Verhoeven, K.1
Ensink, R.J.2
Tiranti, V.3
-
174
-
-
0032977958
-
Sensorineural hearing loss and the 1555G mitochondrial DNA mutation
-
Hutchin T. Sensorineural hearing loss and the 1555G mitochondrial DNA mutation. Acta Otolaryngol 1999; 119: 48-52.
-
(1999)
Acta Otolaryngol
, vol.119
, pp. 48-52
-
-
Hutchin, T.1
-
175
-
-
0024396816
-
Hematopoietic reconstitution in a patient with Fanconi’s anemia by means of umbilical-cord blood from an HLA-identical sibling
-
Gluckman E, Broxmeyer HA, Auerbach AD, et al. Hematopoietic reconstitution in a patient with Fanconi’s anemia by means of umbilical-cord blood from an HLA-identical sibling. N Engl J Med 1989; 321: 1174-1178.
-
(1989)
N Engl J Med
, vol.321
, pp. 1174-1178
-
-
Gluckman, E.1
Broxmeyer, H.A.2
Auerbach, A.D.3
-
176
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
-
Sue CM, Tanji K, Hadjigeorgiou G, et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999; 52: 1905-1908.
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
Tanji, K.2
Hadjigeorgiou, G.3
-
177
-
-
0029916599
-
Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
-
Matthijs G, Claes S, Longo-Mbenza B, et al. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 1996; 4: 46-51.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 46-51
-
-
Matthijs, G.1
Claes, S.2
Longo-Mbenza, B.3
-
178
-
-
0031055387
-
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity
-
Pandya A, Xia X, Radnaabazar J, et al. Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 1997; 34: 169-172.
-
(1997)
J Med Genet
, vol.34
, pp. 169-172
-
-
Pandya, A.1
Xia, X.2
Radnaabazar, J.3
-
179
-
-
0030806576
-
Familial streptomycin ototoxicity in a South African family: A mitochondrial disorder
-
Gardner JC, Goliath R, Viljoen D, et al. Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J Med Genet 1997; 34: 904-906.
-
(1997)
J Med Genet
, vol.34
, pp. 904-906
-
-
Gardner, J.C.1
Goliath, R.2
Viljoen, D.3
-
180
-
-
0343852695
-
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: Evidence of heteroplasmy
-
el-Schahawi M, Lopez de Munain A, Sarrazin AM, et al. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy. Neurology 1997; 48: 453-456.
-
(1997)
Neurology
, vol.48
, pp. 453-456
-
-
El-Schahawi, M.1
Lopez de Munain, A.2
Sarrazin, A.M.3
-
181
-
-
0030827973
-
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness
-
Hamasaki K, Rando RR. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry 1997; 36: 12323-12328.
-
(1997)
Biochemistry
, vol.36
, pp. 12323-12328
-
-
Hamasaki, K.1
Rando, R.R.2
-
182
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan MX, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 2000; 9: 1787-1793.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
183
-
-
1942425120
-
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
-
Bykhovskaya Y, Mengesha E, Wang D, et al. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol Genet Metab 2004; 82: 27-32.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 27-32
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
-
184
-
-
0037228525
-
Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop
-
Seidel-Rogol BL, McCulloch V, Shadel GS. Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. Nat Genet 2003; 33: 23-24.
-
(2003)
Nat Genet
, vol.33
, pp. 23-24
-
-
Seidel-Rogol, B.L.1
McCulloch, V.2
Shadel, G.S.3
-
185
-
-
0033671717
-
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
-
Riazuddin S, Castelein CM, Ahmed ZM, et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet 2000; 26: 431-434.
-
(2000)
Nat Genet
, vol.26
, pp. 431-434
-
-
Riazuddin, S.1
Castelein, C.M.2
Ahmed, Z.M.3
-
186
-
-
0031822009
-
Mutations in a plasma membrane Ca2_-ATPase gene cause deafness in deafwaddler mice
-
Street VA, McKee-Johnson JW, Fonseca RC, et al. Mutations in a plasma membrane Ca2_-ATPase gene cause deafness in deafwaddler mice. Nat Genet 1998; 19: 390-394.
-
(1998)
Nat Genet
, vol.19
, pp. 390-394
-
-
Street, V.A.1
McKee-Johnson, J.W.2
Fonseca, R.C.3
-
187
-
-
0001633148
-
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
-
Zheng QY, Johnson KR, Erway LC. Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 1999; 130: 94-107.
-
(1999)
Hear Res
, vol.130
, pp. 94-107
-
-
Zheng, Q.Y.1
Johnson, K.R.2
Erway, L.C.3
-
188
-
-
20044386893
-
Ahl3, a third locus on mouse chromosome 17 affecting age-related hearing loss
-
Nemoto M, Morita Y, Mishima Y, et al. Ahl3, a third locus on mouse chromosome 17 affecting age-related hearing loss. Biochem Biophys Res Commun 2004; 324: 1283-1288.
-
(2004)
Biochem Biophys Res Commun
, vol.324
, pp. 1283-1288
-
-
Nemoto, M.1
Morita, Y.2
Mishima, Y.3
|