(Q33665891)

28 July 2017

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title

Genes involved in deafness (English)

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28 July 2017

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Holme RH

1

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28 July 2017

Steel KP

series ordinal

2

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28 July 2017

publication date

1 June 1999

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Current Opinion in Genetics & Development

28 July 2017

published in

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28 July 2017

volume

9

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28 July 2017

issue

3

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28 July 2017

page(s)

309-314

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Development of the vertebrate ear: insights from knockouts and mutants

28 July 2017

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7 January 2021

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

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7 January 2021

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

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7 January 2021

Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome

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7 January 2021

The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structures

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7 January 2021

Myosin and adaptation by hair cells

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7 January 2021

Unconventional myosins: new frontiers in actin-based motors

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7 January 2021

The growing family of myosin motors and their role in neurons and sensory cells

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7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

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7 January 2021

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

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7 January 2021

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

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7 January 2021

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

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Unconventional myosins in inner-ear sensory epithelia

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Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

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7 January 2021

Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development

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7 January 2021

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

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7 January 2021

Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2

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7 January 2021

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

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7 January 2021

Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia

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7 January 2021

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

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7 January 2021

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7 January 2021

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

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7 January 2021

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

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7 January 2021

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

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7 January 2021

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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7 January 2021

Sox10, a novel transcriptional modulator in glial cells

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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7 January 2021

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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7 January 2021

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

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7 January 2021

Cochlear disorder associated with melanocyte anomaly in mice with a transgenic insertional mutation

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7 January 2021

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

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7 January 2021

Evidence for a medial K+ recycling pathway from inner hair cells

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7 January 2021

The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

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7 January 2021

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

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7 January 2021

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

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7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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7 January 2021

Connexin 26 gene linked to a dominant deafness

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7 January 2021

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

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7 January 2021

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

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7 January 2021

Cellular localization of rat Isk protein in the stria vascularis by immunohistochemical observation

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7 January 2021

Inner ear defects induced by null mutation of the isk gene

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7 January 2021

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

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7 January 2021

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

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7 January 2021

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Identifiers

DOI

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28 July 2017

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