(Q36519881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

7

1 reference

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10 January 2020

Christine Petit

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Mohammad Hossein Sanati

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Richard J Smith

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Guy Van Camp

18

1 reference

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10 January 2020

author name string

N Hilgert

1

1 reference

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10 January 2020

F Alasti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

N Dieltjens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

B Pawlik

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

B Wollnik

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

O Uyguner

6

1 reference

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10 January 2020

D Weil

8

1 reference

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10 January 2020

E Danis

10

1 reference

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10 January 2020

T Yang

11

1 reference

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10 January 2020

E Pandelia

12

1 reference

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10 January 2020

M B Petersen

13

1 reference

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10 January 2020

D Goossens

14

1 reference

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10 January 2020

J D Favero

15

1 reference

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10 January 2020

publication date

9 July 2008

1 reference

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10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

74

1 reference

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10 January 2020

issue

3

1 reference

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10 January 2020

page(s)

223-232

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families

10 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=4732719

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

The need for universal neonatal hearing screening--some aspects of epidemiology and identification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Amino acid difference formula to help explain protein evolution

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

ConSeq: the identification of functionally and structurally important residues in protein sequences.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4732719

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18616530

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2008.01053.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18616530%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

18616530

1 reference