MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse (Q64044651)

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3 April 2020

title

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse (English)

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Adelaida M. Celaya

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Hannie Kremer

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Kees Okkersen

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Ilse Feenstra

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Carel B Hoyng

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Ronald J C Admiraal

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Margit Schraders

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Jaap Oostrik

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Henricus P M Kunst

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Peter Lichtner

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author name string

Mieke Wesdorp

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Silvia Murillo-Cuesta

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Anne Oonk

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Elena Gomez-Rosas

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Andy J Beynon

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Bas P Hartel

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Hans J P M Koenen

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Jack Weeda

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Stefan Lelieveld

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Irma Joosten

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Suzanne E de Bruijn

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Helger G Yntema

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Erwin van Wijk

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Ignacio Del Castillo

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Pau Serra

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Isabel Varela-Nieto

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Ronald J E Pennings

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DOOFNL Consortium

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language of work or name

English

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publication date

28 June 2018

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American Journal of Human Genetics

3 April 2020

published in

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volume

103

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issue

1

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page(s)

74-88

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Effect of absence of cochlear outer hair cells on behavioural auditory threshold

3 April 2020

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E-cadherin in the mature and developing organ of Corti of the mouse

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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

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Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment.

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Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

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Predicting audiometric status from distortion product otoacoustic emissions using multivariate analyses

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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

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Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

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MAGUK proteins: structure and role in the tight junction

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Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

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A new mathematical model for relative quantification in real-time RT-PCR

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Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier

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New insights into the diversity and function of neuronal immunoglobulin superfamily molecules

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Comparative expression patterns of T-, N-, E-cadherins, beta-catenin, and polysialic acid neural cell adhesion molecule in rat cochlea during development: implications for the nature of Kölliker's organ

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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

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Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs

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Sensorineural hearing loss in insulin-like growth factor I-null mice: a new model of human deafness

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Tricellulin is a tight-junction protein necessary for hearing

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A claudin-9-based ion permeability barrier is essential for hearing.

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Lymphoid EVA1 expression is required for DN1-DN3 thymocytes transition

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Development of tonotopy in the auditory periphery

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Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

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Dexamethasone treatment of tumor necrosis factor-alpha challenged organ of Corti explants activates nuclear factor kappa B signaling that induces changes in gene expression that favor hair cell survival

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Turkish population structure and genetic ancestry reveal relatedness among Eurasian populations

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IGF-1 deficiency causes atrophic changes associated with upregulation of VGluT1 and downregulation of MEF2 transcription factors in the mouse cochlear nuclei.

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Transforming growth factor β1 inhibition protects from noise-induced hearing loss.

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10.1016/J.AJHG.2018.05.011

Identifiers

DOI

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3 April 2020

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3 April 2020

PubMed publication ID

29961571

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