Literature DB >> 10577941

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

A Pandya, X J Xia, R Erdenetungalag, M Amendola, B Landa, J Radnaabazar, B Dangaasuren, G Van Tuyle, W E Nance.   

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Year:  1999        PMID： 10577941      PMCID： PMC1288397          DOI： 10.1086/302658

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  19 in total

1.  Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.

Authors:  D N Hu; W Q Qui; B T Wu; L Z Fang; F Zhou; Y P Gu; Q H Zhang; J H Yan; Y Q Ding; H Wong
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Direct DNA sequencing of PCR-amplified vector inserts following enzymatic degradation of primer and dNTPs.

Authors:  M Hanke; M Wink
Journal:  Biotechniques       Date:  1994-11       Impact factor: 1.993

3.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

4.  Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Authors:  L Jaber; M Shohat; X Bu; N Fischel-Ghodsian; H Y Yang; S J Wang; J I Rotter
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

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

Authors:  T R Prezant; J V Agapian; M C Bohlman; X Bu; S Oztas; W Q Qiu; K S Arnos; G A Cortopassi; L Jaber; J I Rotter
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

6.  Human mitochondrial tRNA processing.

Authors:  W Rossmanith; A Tullo; T Potuschak; R Karwan; E Sbisà
Journal:  J Biol Chem       Date:  1995-05-26       Impact factor: 5.157

7.  Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation.

Authors:  G A Vernham; F M Reid; P A Rundle; H T Jacobs
Journal:  Clin Otolaryngol Allied Sci       Date:  1994-08

8.  Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

Authors:  M D Brown; A Torroni; C L Reckord; D C Wallace
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

9.  A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Authors:  F M Reid; G A Vernham; H T Jacobs
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

10.  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.

Authors:  M X Guan; J A Enriquez; N Fischel-Ghodsian; R S Puranam; C P Lin; M A Maw; G Attardi
Journal:  Mol Cell Biol       Date:  1998-10       Impact factor: 4.272
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  19 in total

1.  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.

Authors:  Huijun Yuan; Yaping Qian; Yanjun Xu; Juyang Cao; Linna Bai; Weidong Shen; Fei Ji; Xin Zhang; Dongyang Kang; Jun Qin Mo; John H Greinwald; Dongyi Han; Suoqiang Zhai; Wie-Yen Young; Min-Xin Guan
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

2.  Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.

Authors:  Ji Hoon Park; Bo Ram Yoon; Hye Jin Kim; Phil Hyu Lee; Byung-Ok Choi; Ki Wha Chung
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

3.  Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Authors:  H-J Park; S Shaukat; X-Z Liu; S H Hahn; S Naz; M Ghosh; H-N Kim; S-K Moon; S Abe; K Tukamoto; S Riazuddin; M Kabra; R Erdenetungalag; J Radnaabazar; S Khan; A Pandya; S-I Usami; W E Nance; E R Wilcox; S Riazuddin; A J Griffith
Journal:  J Med Genet       Date:  2003-04       Impact factor: 6.318

4.  Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.

Authors:  N López-Bigas; R Rabionet; E Martinez; O Bravo; J Girons; A Borragan; M Pellicer; M L Arbonés; X Estivill
Journal:  Am J Hum Genet       Date:  2000-04       Impact factor: 11.025

5.  GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Authors:  Mustafa Tekin; Xia-Juan Xia; Radnaabazar Erdenetungalag; Filiz Basak Cengiz; Thomas W White; Janchiv Radnaabazar; Begzsuren Dangaasuren; Hakki Tastan; Walter E Nance; Arti Pandya
Journal:  Ann Hum Genet       Date:  2010-01-27       Impact factor: 1.670

6.  Candidate locus for a nuclear modifier gene for maternally inherited deafness.

Authors:  Y Bykhovskaya; X Estivill; K Taylor; T Hang; M Hamon; R A Casano; H Yang; J I Rotter; M Shohat; N Fischel-Ghodsian
Journal:  Am J Hum Genet       Date:  2000-04-27       Impact factor: 11.025

7.  Audiological and genetic features of the mtDNA mutations.

Authors:  X Z Liu; S Angeli; X M Ouyang; W Liu; X M Ke; Y H Liu; S X Liu; L L Du; X W Deng; H Yuan; D Yan
Journal:  Acta Otolaryngol       Date:  2008-07       Impact factor: 1.494

8.  GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Authors:  Elif Baysal; Yildirim A Bayazit; Serdar Ceylaner; Necat Alatas; Buket Donmez; Gulay Ceylaner; Imran San; Baki Korkmaz; Akin Yilmaz; Adnan Menevse; Senay Altunyay; Bulent Gunduz; Nebil Goksu; Ahmet Arslan; Abdullah Ekmekci
Journal:  J Genet       Date:  2008-04       Impact factor: 1.166

9.  The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.

Authors:  Zhisu Liao; Jianyue Zhao; Yi Zhu; Li Yang; Aifen Yang; Dongmei Sun; Zhongnong Zhao; Xinjian Wang; Zhihua Tao; Xiaowen Tang; Jindan Wang; Minqiang Guan; Jiafu Chen; Zhiyuan Li; Jianxin Lu; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2007-08-15       Impact factor: 3.575

Review 10.  Genetics of non syndromic hearing loss.

Authors:  M D Venkatesh; Nikhil Moorchung; Bipin Puri
Journal:  Med J Armed Forces India       Date:  2015-09-26
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