(Q24313238)

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Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19732867%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19732867%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Lipoxygenase homology domains 1

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Lipoxygenase homology domains 1

1 reference

GOA release 2020-03-11

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based on heuristic

inferred from title

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Michael S. Hildebrand

3

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7 February 2020

8

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7 February 2020

Hossein Najmabadi

9

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7 February 2020

Richard J Smith

16

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7 February 2020

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Nicolas Grillet

1

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7 February 2020

Martin Schwander

2

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7 February 2020

Anna Sczaniecka

4

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7 February 2020

Anand Kolatkar

5

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7 February 2020

Janice Velasco

6

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7 February 2020

Jennifer A Webster

7

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7 February 2020

William J Kimberling

10

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7 February 2020

Dietrich Stephan

11

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7 February 2020

Melanie Bahlo

12

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7 February 2020

Tim Wiltshire

13

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7 February 2020

Lisa M Tarantino

14

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7 February 2020

Peter Kuhn

15

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7 February 2020

Ulrich Müller

17

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7 February 2020

language of work or name

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publication date

1 September 2009

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7 February 2020

American Journal of Human Genetics

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7 February 2020

85

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7 February 2020

3

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7 February 2020

328-337

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7 February 2020

Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

A second generation human haplotype map of over 3.1 million SNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

A new compartment at stereocilia tips defined by spatial and temporal patterns of myosin IIIa expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Structure of the key toxin in gas gangrene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

The structure of mammalian 15-lipoxygenase reveals similarity to the lipases and the determinants of substrate specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Crystal structure of soybean lipoxygenase L-1 at 1.4 A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Interfacial activation of the lipase-procolipase complex by mixed micelles revealed by X-ray crystallography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Clustal W and Clustal X version 2.0

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

PSLAP, a protein with multiple adhesive motifs, is expressed in Plasmodium falciparum gametocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

The PLAT domain: a new piece in the PKD1 puzzle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Human hepatic lipase mutations and polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

19 March 2017

Membrane recognition by phospholipid-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

7 April 2017

Function and expression pattern of nonsyndromic deafness genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Inheritance patterns of progressive hearing loss in laboratory strains of mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Mouse models for human hereditary deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Human hereditary hearing impairment: mouse models can help to solve the puzzle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Advances in molecular and cellular therapies for hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Mouse models to study inner ear development and hereditary hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

The complexity of age-related hearing impairment: contributing environmental and genetic factors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Genetic insights into the morphogenesis of inner ear hair cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Human Nonsyndromic Sensorineural Deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

27 September 2017

Human platelet 12-lipoxygenase, new findings about its activity, membrane binding and low-resolution structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

29 November 2018

A genotype calling algorithm for affymetrix SNP arrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

29 November 2018

Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771534

29 November 2018

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19732867

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1016/J.AJHG.2009.07.017

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Europe PubMed Central

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7 February 2020

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7 February 2020

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7 February 2020

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