Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss (Q24300273)

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English	Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss	scientific article

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instance of

scholarly article

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title

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss (English)

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main subject

Taperin

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stated in

GOA release 2020-03-11

hearing

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GOA release 2020-03-11

hearing loss

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based on heuristic

inferred from title

author

Peter Nürnberg

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12

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Gudrun Nürnberg

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5

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Bernd Wollnik

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16

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Christian Kubisch

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13

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Christian Kubisch

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Simon von Ameln

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Simon von Ameln

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8

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Joris A Veltman

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Joris A Veltman

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11

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Hannie Kremer

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15

object named as

Hannie Kremer

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Ronald J Admiraal

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7

object named as

Ronald J C Admiraal

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Margit Schraders

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4

object named as

Margit Schraders

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Ingelore Baessmann

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9

object named as

Ingelore Baessmann

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Abdelhamid Barakat

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14

object named as

Abdelhamid Barakat

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Redouane Boulouiz

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3

object named as

Redouane Boulouiz

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Majida Charif

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6

object named as

Majida Charif

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author name string

Yun Li

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1

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Esther Pohl

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2

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Mostafa Kandil

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10

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language of work or name

English

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publication date

12 March 2010

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published in

American Journal of Human Genetics

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volume

86

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issue

3

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page(s)

479-84

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cites work

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

1 reference

stated in

PubMed Central

reference URL

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19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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19 March 2017

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

1 reference

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PubMed Central

reference URL

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19 March 2017

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

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PubMed Central

reference URL

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19 March 2017

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

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PubMed Central

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19 March 2017

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

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19 March 2017

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

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PubMed Central

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19 March 2017

Parametric and nonparametric linkage analysis: a unified multipoint approach

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PubMed Central

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19 March 2017

Mechanotransduction by hair cells: models, molecules, and mechanisms

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PubMed Central

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27 September 2017

Hearing loss: mechanisms revealed by genetics and cell biology

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PubMed Central

reference URL

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27 September 2017

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.

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PubMed Central

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27 September 2017

Mapping insertions, deletions and SNPs on Venter's chromosomes

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27 September 2017

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

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PubMed Central

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27 September 2017

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

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27 September 2017

Instability of repetitive DNA sequences: the role of replication in multiple mechanisms

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27 September 2017

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

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27 September 2017

Newborn Hearing Screening: The Great Omission

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27 September 2017

Genetic epidemiology of hearing impairment

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PubMed Central

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27 September 2017

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

1 reference

stated in

PubMed Central

reference URL

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29 November 2018

Phostensin caps to the pointed end of actin filaments and modulates actin dynamics

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PubMed

reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRR: graphical representation of relationship errors

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20170898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2010.02.003

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PMC publication ID

2833376

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PubMed publication ID

20170898

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ResearchGate publication ID

41507683

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