-
1
-
-
0028892097
-
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
-
Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M et al (1995) A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 4:1967-1972
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1967-1972
-
-
Lesperance, M.M.1
Hall III, J.W.2
Bess, F.H.3
Fukushima, K.4
Jain, P.K.5
Ploplis, B.6
San Agustin, T.B.7
Skarka, H.8
Smith, R.J.9
Wills, M.10
-
2
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
-
Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315-1318
-
(1997)
Science
, vol.278
, pp. 1315-1318
-
-
Lynch, E.D.1
Lee, M.K.2
Morrow, J.E.3
Welcsh, P.L.4
Leon, P.E.5
King, M.C.6
-
3
-
-
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, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK et al (2001) Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10:2509-2514
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2509-2514
-
-
Young, T.L.1
Ives, E.2
Lynch, E.3
Person, R.4
Snook, S.5
MacLaren, L.6
Cator, T.7
Griffin, A.8
Fernandez, B.9
Lee, M.K.10
-
4
-
-
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, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P et al (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10:2501-2508
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.N.1
Van Camp, G.2
Bom, S.J.3
Brown, D.J.4
Cryns, K.5
DeWan, A.T.6
Erson, A.E.7
Flothmann, K.8
Kunst, H.P.9
Kurnool, P.10
-
5
-
-
0035283066
-
WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
-
Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka, Y (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 10:477-484
-
(2001)
Hum Mol Genet
, vol.10
, pp. 477-484
-
-
Takeda, K.1
Inoue, H.2
Tanizawa, Y.3
Matsuzaki, Y.4
Oba, J.5
Watanabe, Y.6
Shinoda, K.7
Oka, Y.8
-
6
-
-
0041919371
-
Wolfram syndrome: Structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
-
Hofmann S, Philbrook C, Gerbitz KD, Bauer MF (2003) Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 12:2003-2012
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2003-2012
-
-
Hofmann, S.1
Philbrook, C.2
Gerbitz, K.D.3
Bauer, M.F.4
-
8
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC et al (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279:1950-1954
-
(1998)
Science
, vol.279
, pp. 1950-1954
-
-
Vahava, O.1
Morell, R.2
Lynch, E.D.3
Weiss, S.4
Kagan, M.E.5
Ahituv, N.6
Morrow, J.E.7
Lee, M.K.8
Skvorak, A.B.9
Morton, C.C.10
-
9
-
-
12244305550
-
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree
-
Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Chen Y, Zhang R et al (2002) A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. J Hum Genet 47:635-640
-
(2002)
J Hum Genet
, vol.47
, pp. 635-640
-
-
Xia, J.1
Deng, H.2
Feng, Y.3
Zhang, H.4
Pan, Q.5
Dai, H.6
Long, Z.7
Tang, B.8
Chen, Y.9
Zhang, R.10
-
10
-
-
0036020099
-
OCP2 immunoreactivity in the human fetal cochlea at weeks 11:17:20, and 28, and the human adult cochlea
-
Kammen-Jolly K, Scholtz AW, Kreczy A, Gluckert R, Thalmann I, Thalmann R, Schrott-Fischer A (2002) OCP2 immunoreactivity in the human fetal cochlea at weeks 11:17:20, and 28, and the human adult cochlea. Hear Res 167:102-109
-
(2002)
Hear Res
, vol.167
, pp. 102-109
-
-
Kammen-Jolly, K.1
Scholtz, A.W.2
Kreczy, A.3
Gluckert, R.4
Thalmann, I.5
Thalmann, R.6
Schrott-Fischer, A.7
-
11
-
-
0034917854
-
OCP1, an F-box protein, co-localizes with OCP2/SKP1 in the cochlear epithelial gap junction region
-
Henzl MT, O'Neal J, Killick R, Thalmann I, Thalmann R (2001) OCP1, an F-box protein, co-localizes with OCP2/SKP1 in the cochlear epithelial gap junction region. Hear Res 157:100-111
-
(2001)
Hear Res
, vol.157
, pp. 100-111
-
-
Henzl, M.T.1
O'Neal, J.2
Killick, R.3
Thalmann, I.4
Thalmann, R.5
-
12
-
-
0033015606
-
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
-
Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
-
(1999)
Hum Genet
, vol.104
, pp. 188-192
-
-
Usami, S.1
Abe, S.2
Weston, M.D.3
Shinkawa, H.4
Van Camp, G.5
Kimberling, W.J.6
-
13
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED., Wilcox ER (1998) A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215-217
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
Desmukh, D.4
Friedman, T.B.5
Green, E.D.6
Wilcox, E.R.7
-
14
-
-
0035034863
-
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
-
Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17:403-411
-
(2001)
Hum Mutat
, vol.17
, pp. 403-411
-
-
Campbell, C.1
Cucci, R.A.2
Prasad, S.3
Green, G.E.4
Edeal, J.B.5
Galer, C.E.6
Karniski, L.P.7
Sheffield, V.C.8
Smith, R.J.9
-
15
-
-
0035862723
-
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
-
Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153-161
-
(2001)
Hum Mol Genet
, vol.10
, pp. 153-161
-
-
Everett, L.A.1
Belyantseva, I.A.2
Noben-Trauth, K.3
Cantos, R.4
Chen, A.5
Thakkar, S.I.6
Hoogstraten-Miller, S.L.7
Kachar, B.8
Wu, D.K.9
Green, E.D.10
-
16
-
-
0030724951
-
A novel gene involved in zinc transport is deficient in the lethal milk mouse
-
Huang L, Gitschier J (1997) A novel gene involved in zinc transport is deficient in the lethal milk mouse. Nat Genet 17:292-297
-
(1997)
Nat Genet
, vol.17
, pp. 292-297
-
-
Huang, L.1
Gitschier, J.2
-
17
-
-
0032837542
-
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice
-
Dixon MJ, Gazzard J, Chaudhry SS, Sampson N, Schulte BA, Steel KP (1999) Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum Mol Genet 8:1579-1584
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1579-1584
-
-
Dixon, M.J.1
Gazzard, J.2
Chaudhry, S.S.3
Sampson, N.4
Schulte, B.A.5
Steel, K.P.6
-
18
-
-
0036106166
-
K+ cycling and the endocochlear potential
-
Wangemann P (2002) K+ cycling and the endocochlear potential. Hear Res 165:1-9
-
(2002)
Hear Res
, vol.165
, pp. 1-9
-
-
Wangemann, P.1
-
19
-
-
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., Green ED (1999) 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 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
Green, E.D.4
-
20
-
-
0029917537
-
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations
-
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R (1996) A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet 63:144-147
-
(1996)
Am J Med Genet
, vol.63
, pp. 144-147
-
-
Superti-Furga, A.1
Rossi, A.2
Steinmann, B.3
Gitzelmann, R.4
-
21
-
-
0028981920
-
Human brain-specific L-proline transporter: Molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes
-
Shafqat S, Velaz-Faircloth M, Henzi VA, Whitney KD, Yang-Feng TL, Seldin MF, Fremeau RT Jr (1995) Human brain-specific L-proline transporter: molecular cloning, functional expression, and chromosomal localization of the gene in human and mouse genomes. Mol Pharmacol 48:219-229
-
(1995)
Mol Pharmacol
, vol.48
, pp. 219-229
-
-
Shafqat, S.1
Velaz-Faircloth, M.2
Henzi, V.A.3
Whitney, K.D.4
Yang-Feng, T.L.5
Seldin, M.F.6
Fremeau Jr., R.T.7
-
22
-
-
0035912839
-
Identification and characterization of a lysosomal transporter for small neutral amino acids
-
Sagne C, Agulhon C, Ravassard P, Darmon M, Hamon M, El Mestikawy S, Gasnier B, Giros B (2001) Identification and characterization of a lysosomal transporter for small neutral amino acids. Proc Natl Acad Sci USA 98:7206-7211
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7206-7211
-
-
Sagne, C.1
Agulhon, C.2
Ravassard, P.3
Darmon, M.4
Hamon, M.5
El Mestikawy, S.6
Gasnier, B.7
Giros, B.8
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