A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function (Q28510685)

Ubiquitin specific peptidase 53

1 reference

Cadherin 23 (otocadherin)

1 reference

Myosin VIIA

1 reference

Unconventional myosin-VI

1 reference

Myelin basic protein

1 reference

Lipoxygenase homology domains 1

1 reference

Adhesion G protein-coupled receptor V1

1 reference

Post-GPI attachment to proteins 1

1 reference

0 references

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6673480&resulttype=core&format=json

16 May 2020

Gary D. Housley

15

1 reference

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16 May 2020

Richard J Smith

17

1 reference

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16 May 2020

author name string

Martin Schwander

1

2 references

25 January 2017

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16 May 2020

Anna Sczaniecka

2

2 references

25 January 2017

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16 May 2020

Nicolas Grillet

3

2 references

25 January 2017

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16 May 2020

Matthew Avenarius

5

2 references

25 January 2017

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16 May 2020

Raheleh Banan

10

2 references

25 January 2017

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16 May 2020

Rudy Hice

11

2 references

25 January 2017

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16 May 2020

Laura Grabowski-Boase

12

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25 January 2017

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16 May 2020

Tim Wiltshire

16

2 references

25 January 2017

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16 May 2020

Ulrich Müller

19

2 references

25 January 2017

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16 May 2020

Janice S Bailey

4

1 reference

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16 May 2020

Brian M Steffy

7

1 reference

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16 May 2020

Glenn C Federe

8

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16 May 2020

Erica A Lagler

9

1 reference

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16 May 2020

Elisabeth M Keithley

13

1 reference

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16 May 2020

Allen F Ryan

14

1 reference

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16 May 2020

Lisa M Tarantino

18

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16 May 2020

language of work or name

English

0 references

publication date

28 February 2007

1 reference

25 January 2017

Journal of Neuroscience

2 references

25 January 2017

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16 May 2020

volume

27

2 references

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16 May 2020

page(s)

2163-2175

1 reference

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16 May 2020

issue

9

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Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

16 May 2020

cites work

1 reference

12 December 2020

Novel myosin VI isoform is abundantly expressed in retina

1 reference

12 December 2020

Implementation of a large-scale ENU mutagenesis program: towards increasing the mouse mutant resource.

1 reference

12 December 2020

Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels

1 reference

12 December 2020

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

1 reference

12 December 2020

1 reference

12 December 2020

The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti

1 reference

12 December 2020

The Notch ligand Jagged1 is required for inner ear sensory development.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel gene causing a mendelian audiogenic mouse epilepsy

1 reference

12 December 2020

Molecular basis of mechanosensory transduction

1 reference

12 December 2020

Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system

1 reference

12 December 2020

Map Manager QTX, cross-platform software for genetic mapping

1 reference

12 December 2020

Role of LIM domains in mediating signaling protein interactions

1 reference

12 December 2020

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

1 reference

12 December 2020

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

1 reference

12 December 2020

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

1 reference

12 December 2020

Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse

1 reference

12 December 2020

Mutations of MYO6 are associated with recessive deafness, DFNB37

1 reference

12 December 2020

Defective membrane repair in dysferlin-deficient muscular dystrophy

1 reference

12 December 2020

Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse

1 reference

12 December 2020

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

1 reference

12 December 2020

The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media

1 reference

12 December 2020

Human Nonsyndromic Sensorineural Deafness

1 reference

12 December 2020

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

1 reference

12 December 2020

CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells.

1 reference

12 December 2020

Use of mouse genetics for studying inner ear development

1 reference

12 December 2020

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

1 reference

12 December 2020

The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon

1 reference

12 December 2020

gemini encodes a zebrafish L-type calcium channel that localizes at sensory hair cell ribbon synapses.

1 reference

12 December 2020

DFNA5: hearing impairment exon instead of hearing impairment gene?

1 reference

12 December 2020

Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice.

1 reference

12 December 2020

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

1 reference

12 December 2020

Myosin VI: cellular functions and motor properties

1 reference

12 December 2020

The dominant alopecia phenotypes Bareskin, Rex-denuded, and Reduced Coat 2 are caused by mutations in gasdermin 3

1 reference

12 December 2020

Vlgr1 knockout mice show audiogenic seizure susceptibility.

1 reference

12 December 2020

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

1 reference

12 December 2020

Zinc finger proteins: getting a grip on RNA

1 reference

12 December 2020

Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland

1 reference

12 December 2020

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

1 reference

12 December 2020

Protein-DNA recognition patterns and predictions.

1 reference

12 December 2020

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

1 reference

12 December 2020

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutant mouse with a highly specific contextual fear-conditioning deficit found in an N-ethyl-N-nitrosourea (ENU) mutagenesis screen

1 reference

12 December 2020

Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.

1 reference

12 December 2020

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

1 reference

12 December 2020

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

1 reference

12 December 2020

The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage

1 reference

12 December 2020

Integrin-linked kinase regulates Bergmann glial differentiation during cerebellar development.

1 reference

12 December 2020

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure of the first C2 domain of synaptotagmin I: a novel Ca2+/phospholipid-binding fold

1 reference

12 December 2020

The expression pattern of the transcription factor Phox2 delineates synaptic pathways of the autonomic nervous system

1 reference

12 December 2020

Lack of neurotrophin-3 results in death of spinal sensory neurons and premature differentiation of their precursors

1 reference

12 December 2020

Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis

1 reference

12 December 2020

Mammalian germ cell mutagenicity of ENU, IPMS and MMS, chemicals selected for a transgenic mouse collaborative study

1 reference

12 December 2020

Mutation assays in male germ cells from transgenic mice: overview of study and conclusions

1 reference

12 December 2020

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

1 reference

12 December 2020

10.1523/JNEUROSCI.4975-06.2007

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

936627

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6673480&resulttype=core&format=json

16 May 2020

936627

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6673480&resulttype=core&format=json

16 May 2020

2 references

Consolidated OpenCitations Corpus – April 2017

936627