(Q33312080)

English

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

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scholarly article

1 reference

Europe PubMed Central

25 July 2017

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene (English)

1 reference

Europe PubMed Central

25 July 2017

1 reference

based on heuristic

inferred from title

Xavier Estivill i Pallejà

4

1 reference

Europe PubMed Central

25 July 2017

object named as

Ester Ballana

1

0 references

Josep Maria Mercader

object named as

Josep Maria Mercader

2

0 references

author name string

Nathan Fischel-Ghodsian

3

1 reference

Europe PubMed Central

25 July 2017

publication date

21 December 2007

1 reference

Europe PubMed Central

25 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

25 July 2017

8

1 reference

Europe PubMed Central

25 July 2017

81

1 reference

Europe PubMed Central

25 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-81

0 references

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Transcribed processed pseudogenes in the human genome: an intermediate form of expressed retrosequence lacking protein-coding ability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Molecular pathogenetic mechanism of maternally inherited deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Expression patterns of claudins, tight junction adhesion molecules, in the inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Pseudogenes: Are They “Junk” or Functional DNA?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome☆

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Mitochondrial DNA mutations in human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Comparison of ion transport mechanisms between vestibular dark cells and strial marginal cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Inheritance of unequal numbers of the genes encoding the human neutrophil defensins HP-1 and HP-3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

A molecular basis for human hypersensitivity to aminoglycoside antibiotics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

21 June 2018

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-81

21 January 2018

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

31 October 2018

Hearing loss due to the mitochondrial A1555G mutation in Italian families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2233610

31 October 2018

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

https://pubmed.ncbi.nlm.nih.gov/18154640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/18154640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/18154640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect on mitochondrial function of the tRNA Ser(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/18154640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/18154640

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-8-81

1 reference

Europe PubMed Central

25 July 2017

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1 reference

Europe PubMed Central

25 July 2017

1 reference

Europe PubMed Central

25 July 2017

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