(Q34866333)

5 August 2017

title

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans (English)

1 reference

5 August 2017

main subject

nonsyndromic deafness

1 reference

1 reference

Robert J Morell

16

0 references

Hanka Venselaar

object named as

Hanka Venselaar

9

0 references

Abdelaziz Tlili

object named as

Abdelaziz Tlili

11

0 references

Inna A Belyantseva

4

object named as

Inna A Belyantseva

1 reference

5 August 2017

24

Thomas B Friedman

1 reference

5 August 2017

26

Hannie Kremer

1 reference

5 August 2017

7

Saima Riazuddin

1 reference

5 August 2017

23

Sheikh Riazuddin

1 reference

5 August 2017

6

Rob W J Collin

1 reference

5 August 2017

3

Ersan Kalay

1 reference

5 August 2017

12

Bert van der Zwaag

1 reference

5 August 2017

20

Jaap Oostrik

1 reference

5 August 2017

19

Refik Caylan

1 reference

5 August 2017

21

Ahmet Karaguzel

1 reference

5 August 2017

15

S Amer Riazuddin

1 reference

5 August 2017

2

Saber Masmoudi

1 reference

5 August 2017

Zubair M Ahmed

1

1 reference

5 August 2017

Mohamed Ali Mosrati

5

1 reference

5 August 2017

Mounira Hmani-Aifa

8

1 reference

5 August 2017

Mayya N Kawar

10

1 reference

5 August 2017

Shahid Y Khan

13

1 reference

5 August 2017

Leila Ayadi

14

1 reference

5 August 2017

Andrew J Griffith

17

1 reference

5 August 2017

Ilhem Charfedine

18

1 reference

5 August 2017

Abdelmonem Ghorbel

22

1 reference

5 August 2017

Hammadi Ayadi

25

1 reference

5 August 2017

language of work or name

English

0 references

publication date

26 October 2008

1 reference

5 August 2017

1 reference

5 August 2017

volume

40

1 reference

5 August 2017

issue

11

1 reference

5 August 2017

page(s)

1335-1340

1 reference

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Intrasplicing coordinates alternative first exons with alternative splicing in the protein 4.1R gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Auditory transduction in the mouse

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

A first look at ARFome: dual-coding genes in mammalian genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Genome-wide transcription and the implications for genomic organization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Newborn hearing screening--a silent revolution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Gene fusion/fission is a major contributor to evolution of multi-domain bacterial proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

A genome-wide study of dual coding regions in human alternatively spliced genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Transcription-mediated gene fusion in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Human Nonsyndromic Sensorineural Deafness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Kinetics and crystal structure of catechol-o-methyltransferase complex with co-substrate and a novel inhibitor with potential therapeutic application

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Catechol-O-Methyltransferase (COMT)-mediated methylation metabolism of endogenous bioactive catechols and modulation by endobiotics and xenobiotics: importance in pathophysiology and pathogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Prestin, a new type of motor protein

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Molecular mechanisms controlling the rate and specificity of catechol O-methylation by human soluble catechol O-methyltransferase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

The membrane-based mechanism of cell motility in cochlear outer hair cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Spectrin, actin and the structure of the cortical lattice in mammalian cochlear outer hair cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Suggestions for "safe" residue substitutions in site-directed mutagenesis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404732

Structure of the cortical cytoskeleton in mammalian outer hair cells

8 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18953341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fodrin is a constituent of the cortical lattice in outer hair cells of the guinea pig cochlea: immunocytochemical evidence

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18953341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.245

1 reference

5 August 2017

1 reference

5 August 2017

1 reference