The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness (Q34145936)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Fulvio Cruciani

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Núria López-Bigas

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Xavier Estivill i Pallejà

14

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Manuela Villamar

object named as

M Villamar

11

0 references

Raquel Rabionet

object named as

R Rabionet

6

0 references

Adolfo López de Munain

1 reference

ORCID Public Data File 2021

author name string

A Torroni

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

C Rengo

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

D Sellitto

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

N Govea

7

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

A López De Munain

8

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

M Sarduy

9

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

L Romero

10

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

I del Castillo

12

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

F Moreno

13

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

R Scozzari

15

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

1 November 1999

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

65

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1349-1358

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

maintained by WikiProject

WikiProject Invasion Biology

0 references

Mitochondrial deafness mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

mtDNA analysis of the Galician population: a genetic edge of European variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Relatedness among Basques, Portuguese, Spaniards, and Algerians studied by HLA allelic frequencies and haplotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Multiple origins of a mitochondrial mutation conferring deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Classification of European mtDNAs from an analysis of three European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Paleolithic and neolithic lineages in the European mitochondrial gene pool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 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=1288287

28 July 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=1288287

28 July 2018

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 July 2018

Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

Sensorineural hearing loss and the 1555G mitochondrial DNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 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=1288287

28 October 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=1288287

28 October 2018

Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288287

28 October 2018

The application of mitochondrial DNA typing to the study of white Caucasian genetic identification

1 reference

https://pubmed.ncbi.nlm.nih.gov/10521300

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10521300

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10521300

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34145936&oldid=1811194685"