(Q24649572)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Kwanghyuk Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Joris A Veltman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sulman Basit

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

14

Wasim Ahmad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

7

Lies H Hoefsloot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

12

Cor W R J Cremers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

17

Hannie Kremer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

9

Frans P M Cremers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

15

Ronald J C Admiraal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

16

Suzanne M Leal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

Jaap Oostrik

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1

Margit Schraders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

5

Patrick L M Huygen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

13

Henricus P M Kunst

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Ghazanfar Ali

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Muhammad Ansar

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

4 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 January 2020

number of pages

10

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

138-147

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

A systematic approach to mapping recessive disease genes in individuals from outbred populations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Amino acid substitution matrices from protein blocks

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Clustal W and Clustal X version 2.0

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Glutaredoxins: glutathione-dependent redox enzymes with functions far beyond a simple thioredoxin backup system

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Allegro, a new computer program for multipoint linkage analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Amino acid difference formula to help explain protein evolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Genetics of congenital hearing impairment: a clinical approach

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

A second-generation combined linkage physical map of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Newborn hearing screening--a silent revolution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Glutaredoxin: role in reversible protein s-glutathionylation and regulation of redox signal transduction and protein translocation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Reversible glutathionylation regulates actin polymerization in A431 cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Improved splice site detection in Genie

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Prediction of human mRNA donor and acceptor sites from the DNA sequence

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

Computer programs for multilocus haplotyping of general pedigrees.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820176

10.1016/J.AJHG.2009.12.017

28 November 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

release_byz2yaljizhg3n52rx5px4wbr4

17 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/byz2yaljizhg3n52rx5px4wbr4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137778%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

20137778

1 reference