Mitochondrial TRNS1 gene

Guan MX et al. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Sevior KB et al. (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Fischel-Ghodsian N et al. () Mitochondrial mutation associated with nonsyndromic deafness.

Reid FM et al. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Reid FM et al. (1994) Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness.

Tiranti V et al. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

Hatamochi A et al. (1982) Diffuse palmoplantar keratoderma with deafness.

Tang X et al. (2010) Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

Jin L et al. (2007) Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

Grafakou O et al. (2003) Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

Chapiro E et al. (2002) Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Hutchin TP et al. (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.

Hutchin TP et al. (2001) Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Martin L et al. (2000) Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.

Hutchin TP et al. (2000) A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Toompuu M et al. (1999) Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.

Sue CM et al. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

Friedman RA et al. (1999) Maternally inherited nonsyndromic hearing loss.

Verhoeven K et al. (1999) Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

Nakamura M et al. (1995) A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

Jaksch M et al. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

NCBI article

OMIM.ORG article

Orphanet article