Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. (Q47073974)

5 January 2018

http://europepmc.org/abstract/MED/25331638

title

Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. (English)

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25331638

main subject

Transmembrane protein 132E

1 reference

posterior lateral line neuromast hair cell development

1 reference

Transmembrane protein 132E

1 reference

Transmembrane protein 132E

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Jiangxia Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Xiaohan Zhao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Qian Xin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Shan Shan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Baichun Jiang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yecheng Jin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Huijun Yuan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Pu Dai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ruo Xiao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Qingyan Zhang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Jingjing Xiao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yaoqin Gong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Qiji Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

publication date

28 November 2014

1 reference

5 January 2018

http://europepmc.org/abstract/MED/25331638

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

98-105

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25331638%20AND%20SRC:MED&resulttype=core&format=json

A method and server for predicting damaging missense mutations

6 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Hearing loss: mechanisms revealed by genetics and cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

The lateral-line and inner-ear afferents in larval and adult urodeles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

The transmembrane inner ear (Tmie) protein is essential for normal hearing and balance in the zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Are TMEM genes potential candidate genes for panic disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Function and expression pattern of nonsyndromic deafness genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Selective labeling of sensory hair cells and neurons in auditory, vestibular, and lateral line systems by a monoclonal antibody

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Knockdown of transmembrane protein 132A by RNA interference facilitates serum starvation-induced cell death in Neuro2a cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Rare variants in TMEM132D in a case-control sample for panic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712

inferred from DOI database lookup

7 January 2021

based on heuristic

Sensory neuron growth cones comigrate with posterior lateral line primordial cells in zebrafish

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22712