-
4
-
-
0026707284
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Construction of a cDNA library from microdissected guinea pig organ of Corti
-
(1992)
Hearing Res
, vol.62
, pp. 124-126
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-
Wilcox1
Fex2
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6
-
-
0028169393
-
Isolation of novel and known genes from a human fetal cochlear cDNA library using substractive hybridization and differential screening
-
of special interest, A human fetal cochlear (membranous labyrinth) cDNa library was subtracted against total human fetal brain RNAs by an avidin-biotin-based procedure. Analysis of a subset of cDNAs yielded several known genes that serve structural or regulatory functions in the inner ear and some novel cochlear genes.
-
(1994)
Genomics
, vol.23
, pp. 42-50
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-
Robertson1
Khetarpal2
Gutiérrez-Espeleta3
Bieber4
Morton5
-
13
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
of outstanding interest, Shaker-1 homozygotes show vestibular dysfunction and progressive degeneration of the organ of Corti. Three mutations are desribed in the type VII myosin gene, two missense mutations and a splice acceptor site mutation, all in the region encoding the myosin head.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson1
Walsh2
Mburu3
Valera4
Brown5
Antonio6
Beisel7
Steel8
Brown9
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14
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome tyep 1B
-
of outstanding interest, Two different premature stop condons, a 6 bp deletion, and two different missense mutations were detected in five unrelated USH1B families. As USH1B appears to represent a primary cytoskeletal protein defect, other unconventional myosins and their interacting proteins are candidates for other forms of USH.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil1
Blanchard2
Kaplan3
Guilford4
Gibson5
Walsh6
Mburu7
Valera8
Levilliers9
Weston10
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26
-
-
0027966022
-
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1
-
(1994)
Nature Genet
, vol.7
, pp. 509-512
-
-
Hughes1
Newton2
Liu3
Read4
-
30
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
of special interest, This study offers the first description of a mitochondrial rRNA mutation leading to disease, the first case of non-syndromic deafness caused by a mitochondrial DNA mutation, and the first molecular genetic study of antibiotic-induced ototoxicity. The A1555→G mutation occurs at a highly conserved region of the 125 rRNA gene, in which aminoglycosides are known to bind and in which aminoglycoside resistance mutations have been described in other species.
-
(1993)
Nature Genet
, vol.4
, pp. 289-294
-
-
Prezant1
Agapian2
Bohlman3
Bu4
Özlas5
Qiu6
Arnos7
Cortopassi8
Jaber9
Rotter10
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32
-
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0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
of outstanding interest, Three families were identified with mutations in unlinked photoreceptor-specific genes ROM1 and peripherin/RDS, in which only double heterozygotes develop retinitis pigmentosa. This study is the first example of digenic inheritance in human disease.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara1
Berson2
Dryja3
-
35
-
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0028836920
-
A gene for congenital, recessive deafness DFNB3 maps to the pericentrometric region of chromosome 17
-
of special interest, By comparing the frequency of short tandem repeat homozygotes among 13 apparently unrelated deaf individuals and 48 unrelated unaffected individuals of an isolated population, allelic disequilibrium was detected between DFNB3 and short tandem repeats in the pericentromeric region of chromosome 17.
-
(1995)
Nature Genet
, vol.9
, pp. 86-91
-
-
Friedman1
Liang2
Weber3
Hinnant4
Barber5
Winata6
Arhya7
Asher8
-
40
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
of outstanding interests, In an autosomal dominant form of Stickler syndrome characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, sensorineural hearing loss, but without eye involvement, a splice site mutation resulting in ‘exon skipping’ within the COL11A2 gene was found. In an autosomal recessive form of Stickler syndrome with more severe characteristics, a Gly→Arg substitution was found which is predicted to destabilize the heterotrimeric collagen XI molecules.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula1
Mariman2
Lui3
Zhidkova4
Tiller5
Goldring6
Van Beersum7
De Waal Malefijt8
Van den Hoogen9
Ropers10
-
52
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
of outstanding interest, This paper describes the first cloning of a nuclear gene involved in non-syndromic deafness (DFN3). Three mutations in the POU3F4 gene result in carboxy-terminal truncation of the predicted proteins, and two missense mutations affect highly conserved amino acid residues. No mutations were identified in patients with X-linked sensorineural deafness lacking the temporal bone defect.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok1
Van der Maarel2
Bitner Glindzicz3
Huber4
Monaco5
Malcolm6
Pembrey7
Ropers8
Cremers9
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