(Q50453617)

14 March 2018

title

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. (English)

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14 March 2018

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Guy Van Camp

object named as

Guy Van Camp

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author name string

Nele Hilgert

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14 March 2018

Vedat Topsakal

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14 March 2018

Joost van Dinther

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14 March 2018

Erwin Offeciers

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14 March 2018

publication date

23 January 2008

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14 March 2018

European Journal of Human Genetics

published in

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14 March 2018

volume

16

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14 March 2018

issue

5

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14 March 2018

page(s)

593-602

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14 March 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5202000

exact match

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cites work

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

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Myosin VI is a mediator of the p53-dependent cell survival pathway.

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Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202000

7 January 2021

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202000

7 January 2021

Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202000

7 January 2021

Mutations of MYO6 are associated with recessive deafness, DFNB37

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7 January 2021

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Computational identification of promoters and first exons in the human genome

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Promoter2.0: for the recognition of PolII promoter sequences.

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Predicting Pol II promoter sequences using transcription factor binding sites.

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Dragon Promoter Finder: recognition of vertebrate RNA polymerase II promoters

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

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ASD: a bioinformatics resource on alternative splicing

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

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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

Full-length myosin VI dimerizes and moves processively along actin filaments upon monomer clustering

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Myosin VI plays a role in cell-cell adhesion during epithelial morphogenesis

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5202000

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14 March 2018

Dimensions Publication ID

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14 March 2018