Min-Xin Guan

Author PubWeight™ 86.47‹?›

Top papers

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