Genes responsible for human hereditary deafness: symphony of a thousand (Q41244075)

28 September 2017

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title

Genes responsible for human hereditary deafness: symphony of a thousand (English)

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28 September 2017

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1

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PubMed ID

8944017

28 September 2017

language of work or name

English

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publication date

1 December 1996

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28 September 2017

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28 September 2017

14

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28 September 2017

4

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28 September 2017

385-391

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https://scigraph.springernature.com/pub.10.1038/ng1296-385

28 September 2017

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cites work

Calcium imaging of single stereocilia in hair cells: localization of transduction channels at both ends of tip links

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Pulling springs to tune transduction: adaptation by hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Thyroid hormone receptor beta is essential for development of auditory function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Transmembrane form of the kit ligand growth factor is determined by alternative splicing and is missing in the Sld mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired; findings relating to acquired causes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Human/mouse homology relationships

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

F actin bundles in Drosophila bristles. I. Two filament cross-links are involved in bundling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Extracellular proteins needed for C. elegans mechanosensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A note on deaf mutism

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

The gene for an inherited form of deafness maps to chromosome 5q31

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

How is the Human Genome Project doing, and what have we learned so far?

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

The rise and fall of positional cloning?

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Fetal and maternal thyroid hormones

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Audiogenic Seizures and Cochlear Damage in Rats after Perinatal Antithyroid Treatment*

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Biochemical characterization of a pedigree with mitochondrially inherited deafness

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Inherited hearing defects in mice

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

The deafness locus (dn) maps to mouse chromosome 19.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Molecular mechanisms of mechanosensation?

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Identification of a 120 kd hair-bundle myosin located near stereociliary tips

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Transcription factors in inner ear development

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Complementary roles of BDNF and NT-3 in vestibular and auditory development

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Induction of cell proliferation in mammalian inner-ear sensory epithelia by transforming growth factor alpha and epidermal growth factor

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Gating-spring models of mechanoelectrical transduction by hair cells of the internal ear.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Linkage of a gene for dominant non-syndromic deafness to chromosome 19.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

1 reference

https://api.crossref.org/works/10.1038%2FNG1296-385

7 January 2021

Identifiers

DOI

10.1038/NG1296-385

1 reference

PubMed ID

8944017

Dimensions Publication ID

28 September 2017

0 references

1 reference

PubMed ID

8944017