(Q24654772)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15930085%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

case report

0 references

title

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15930085%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

5

1 reference

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Xavier Estivill i Pallejà

12 January 2020

7

1 reference

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12 January 2020

James R Bartles

8

1 reference

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12 January 2020

author name string

F Donaudy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15930085%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

L Zheng

2

1 reference

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12 January 2020

R Ficarella

3

1 reference

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12 January 2020

E Ballana

4

1 reference

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12 January 2020

S Melchionda

6

1 reference

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12 January 2020

P Gasparini

9

1 reference

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12 January 2020

language of work or name

English

0 references

publication date

1 June 2005

1 reference

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Journal of Medical Genetics

12 January 2020

published in

1 reference

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12 January 2020

volume

43

1 reference

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12 January 2020

issue

2

1 reference

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12 January 2020

page(s)

157-161

1 reference

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Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

Porcine myosin-VI: characterization of a new mammalian unconventional myosin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564636

28 September 2017

Identifiers

DOI

10.1136/JMG.2005.032086

1 reference

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12 January 2020

1 reference

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12 January 2020

1 reference