Mitochondrial RNR1 gene

Dai D et al. (2008) Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.

Bu X et al. (1992) Two-locus mitochondrial and nuclear gene models for mitochondrial disorders.

Dai P et al. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.

Wang Q et al. (2006) 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.

Ballana E et al. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Yao YG et al. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.

Bravo O et al. (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

Xing G et al. (2006) Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity.

Guan MX et al. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Tang X et al. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

Chaig MR et al. (2008) A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.

Yuan H et al. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

Bacino C et al. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness.

Prezant TR et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

Guan MX et al. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.

Pandya A et al. (1997) Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.

Gardner JC et al. (1997) Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

Estivill X et al. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

Bykhovskaya Y et al. (1998) Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.

Casano RA et al. (1998) Hearing loss due to the mitochondrial A1555G mutation in Italian families.

Abe S et al. () Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

Santorelli FM et al. (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.

Wang Q et al. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

None (1999) Mitochondrial deafness mutations reviewed.

Casano RA et al. () Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications.

Torroni A et al. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

Bykhovskaya Y et al. (2000) Candidate locus for a nuclear modifier gene for maternally inherited deafness.

Guan MX et al. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.

Thyagarajan D et al. (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

Tessa A et al. (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Bykhovskaya Y et al. () Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.

ØStergaard E et al. (2002) The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

Malik S et al. (2003) Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.

Tekin M et al. (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

del Castillo FJ et al. (2003) Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

Finnilä S et al. (2003) Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.

Malik SG et al. (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.

Zhao H et al. (2004) 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.

Li R et al. (2004) 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.

Noguchi Y et al. (2004) Audiovestibular findings in patients with mitochondrial A1555G mutation.

Li R et al. (2004) Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.

Zhao L et al. (2004) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.

Young WY et al. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia article