Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
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.
|
Am J Hum Genet
|
2003
|
1.96
|
2
|
Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family.
|
Circ Res
|
2011
|
1.81
|
3
|
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.
|
Mitochondrion
|
2010
|
1.80
|
4
|
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.
|
Cell
|
2012
|
1.56
|
5
|
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.
|
J Biol Chem
|
2002
|
1.45
|
6
|
Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
|
Ophthalmology
|
2010
|
1.44
|
7
|
Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.
|
Hum Genet
|
2005
|
1.37
|
8
|
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.
|
Am J Med Genet A
|
2004
|
1.30
|
9
|
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.
|
Mol Cell Biol
|
2002
|
1.30
|
10
|
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.
|
Nucleic Acids Res
|
2004
|
1.24
|
11
|
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
|
Invest Ophthalmol Vis Sci
|
2006
|
1.23
|
12
|
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
|
Mitochondrion
|
2009
|
1.19
|
13
|
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
|
Biochem Biophys Res Commun
|
2006
|
1.19
|
14
|
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
|
Gene
|
2007
|
1.19
|
15
|
Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
|
Antimicrob Agents Chemother
|
2009
|
1.13
|
16
|
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.
|
Nucleic Acids Res
|
2005
|
1.11
|
17
|
Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.
|
Hypertension
|
2009
|
1.10
|
18
|
Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.
|
J Biol Chem
|
2005
|
1.09
|
19
|
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
|
Biochem Biophys Res Commun
|
2005
|
1.09
|
20
|
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
|
Mol Cell Biol
|
2010
|
1.09
|
21
|
Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.
|
Hypertension
|
2009
|
1.09
|
22
|
Coronary heart disease is associated with a mutation in mitochondrial tRNA.
|
Hum Mol Genet
|
2013
|
1.08
|
23
|
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
|
Pharmacogenet Genomics
|
2008
|
1.07
|
24
|
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
|
Am J Med Genet A
|
2008
|
1.05
|
25
|
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
|
Biochem Biophys Res Commun
|
2007
|
1.05
|
26
|
Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration.
|
J Mol Biol
|
2009
|
1.04
|
27
|
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.
|
Gene
|
2006
|
1.04
|
28
|
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.
|
Am J Med Genet A
|
2005
|
1.03
|
29
|
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss.
|
Am J Med Genet A
|
2006
|
1.02
|
30
|
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
|
Ophthalmology
|
2009
|
1.00
|
31
|
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
|
Mitochondrion
|
2006
|
0.99
|
32
|
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
|
Am J Med Genet A
|
2005
|
0.97
|
33
|
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
|
Biochem Biophys Res Commun
|
2005
|
0.96
|
34
|
Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.
|
FEBS Lett
|
2007
|
0.96
|
35
|
Maternally inherited hypertension is associated with the mitochondrial tRNA(Ile) A4295G mutation in a Chinese family.
|
Biochem Biophys Res Commun
|
2008
|
0.95
|
36
|
Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
|
Biochem Biophys Res Commun
|
2005
|
0.95
|
37
|
Pathogenic mutations of nuclear genes associated with mitochondrial disorders.
|
Acta Biochim Biophys Sin (Shanghai)
|
2009
|
0.94
|
38
|
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.
|
Biochem Biophys Res Commun
|
2005
|
0.94
|
39
|
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
|
Biochem Biophys Res Commun
|
2006
|
0.92
|
40
|
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.
|
Biochem Biophys Res Commun
|
2005
|
0.92
|
41
|
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
|
Gene
|
2007
|
0.92
|
42
|
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
|
J Med Genet
|
2011
|
0.91
|
43
|
Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae.
|
Mitochondrion
|
2009
|
0.91
|
44
|
Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.
|
Biochem Biophys Res Commun
|
2009
|
0.91
|
45
|
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
|
Mol Genet Metab
|
2010
|
0.91
|
46
|
The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
|
Biochem Biophys Res Commun
|
2007
|
0.90
|
47
|
Mitochondrial tRNA mutations associated with deafness.
|
Mitochondrion
|
2012
|
0.90
|
48
|
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.
|
Biochem Biophys Res Commun
|
2004
|
0.90
|
49
|
The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.
|
Biochem Biophys Res Commun
|
2007
|
0.90
|
50
|
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.
|
J Genet Genomics
|
2008
|
0.89
|
51
|
Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.
|
Biochem Biophys Res Commun
|
2005
|
0.89
|
52
|
Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification.
|
Biochim Biophys Acta
|
2003
|
0.89
|
53
|
Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
|
Biochim Biophys Acta
|
2004
|
0.88
|
54
|
Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation.
|
Mol Genet Metab
|
2010
|
0.87
|
55
|
The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension.
|
Biochem Biophys Res Commun
|
2008
|
0.86
|
56
|
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
|
Mol Genet Metab
|
2010
|
0.85
|
57
|
Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.
|
Biochem Biophys Res Commun
|
2010
|
0.85
|
58
|
Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
|
Biochem Biophys Res Commun
|
2005
|
0.85
|
59
|
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.
|
Biochem Biophys Res Commun
|
2007
|
0.85
|
60
|
Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.
|
Biochem Biophys Res Commun
|
2005
|
0.84
|
61
|
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
|
Biochem Biophys Res Commun
|
2009
|
0.84
|
62
|
The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.
|
Eur J Hum Genet
|
2011
|
0.84
|
63
|
Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
|
J Genet Genomics
|
2009
|
0.83
|
64
|
The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation.
|
Mitochondrion
|
2011
|
0.83
|
65
|
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
|
Mitochondrion
|
2008
|
0.83
|
66
|
Genomic organization, expression, and subcellular localization of mouse mitochondrial seryl-tRNA synthetase.
|
Biochem Biophys Res Commun
|
2004
|
0.83
|
67
|
Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families.
|
Biochem Biophys Res Commun
|
2006
|
0.83
|
68
|
The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy.
|
Biochem Biophys Res Commun
|
2007
|
0.83
|
69
|
The effect of the mtDNA4834 deletion on hearing.
|
Biochem Biophys Res Commun
|
2006
|
0.83
|
70
|
Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
|
Mol Genet Metab
|
2010
|
0.82
|
71
|
Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.
|
J Transl Med
|
2011
|
0.81
|
72
|
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.
|
Hum Mutat
|
2012
|
0.81
|
73
|
Mitochondrial tRNA variants in Chinese subjects with coronary heart disease.
|
J Am Heart Assoc
|
2014
|
0.81
|
74
|
Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
|
Biochem Biophys Res Commun
|
2006
|
0.81
|
75
|
Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
|
Invest Ophthalmol Vis Sci
|
2014
|
0.80
|
76
|
Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.
|
Invest Ophthalmol Vis Sci
|
2012
|
0.80
|
77
|
Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
|
Biochim Biophys Acta
|
2009
|
0.80
|
78
|
Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.
|
Biochem Biophys Res Commun
|
2006
|
0.80
|
79
|
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
|
Biochem Biophys Res Commun
|
2007
|
0.79
|
80
|
[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].
|
Yi Chuan
|
2013
|
0.79
|
81
|
[Leber's hereditary optic neuropathy may be associated with the mitochondrial tRNAGlu A14693G mutation in three Chinese families].
|
Yi Chuan
|
2010
|
0.78
|
82
|
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.
|
Mitochondrion
|
2013
|
0.78
|
83
|
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families.
|
Biochem Biophys Res Commun
|
2006
|
0.78
|
84
|
Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification.
|
Biochem Biophys Res Commun
|
2003
|
0.78
|
85
|
Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.
|
Int J Pediatr Otorhinolaryngol
|
2010
|
0.77
|
86
|
The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.
|
Eur J Hum Genet
|
2012
|
0.76
|
87
|
Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.
|
Invest Ophthalmol Vis Sci
|
2010
|
0.76
|
88
|
[Mutations in mitochondrial DNA associated with hypertension].
|
Yi Chuan
|
2011
|
0.76
|
89
|
[Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment].
|
Yi Chuan
|
2013
|
0.75
|
90
|
[Molecular mechanisms underlying function of hair bundle: study on genetic deafness in mouse models].
|
Sheng Li Xue Bao
|
2012
|
0.75
|
91
|
[Polymorphisms of mitochondrial Cyt b gene and D-loop region in sweetfish (Plecoglossus altivelis Temminck et Schlegel) from Zhejiang and Fujian Provinces].
|
Yi Chuan
|
2008
|
0.75
|
92
|
[Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family].
|
Yi Chuan
|
2008
|
0.75
|
93
|
[Genetic analysis of family constellation for cochlear implant recipients].
|
Yi Chuan
|
2008
|
0.75
|
94
|
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.
|
Biochem Biophys Res Commun
|
2012
|
0.75
|
95
|
[The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].
|
Yi Chuan
|
2012
|
0.75
|
96
|
[Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.].
|
Yi Chuan
|
2008
|
0.75
|
97
|
[Mitochondria couple cellular Ca(2+) signal transduction].
|
Sheng Li Xue Bao
|
2012
|
0.75
|
98
|
Rational design of an EGF-IL18 fusion protein: implication for developing tumor therapeutics.
|
Biochem Biophys Res Commun
|
2005
|
0.75
|
99
|
[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].
|
Yi Chuan
|
2011
|
0.75
|
100
|
[Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Province].
|
Yi Chuan
|
2012
|
0.75
|
101
|
[Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation].
|
Yi Chuan
|
2010
|
0.75
|
102
|
Cloning and characterization of mouse mTERF encoding a mitochondrial transcriptional termination factor.
|
Biochem Biophys Res Commun
|
2005
|
0.75
|
103
|
[Mitochondrial tRNAIle A4317G mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation].
|
Yi Chuan
|
2013
|
0.75
|