Lista de obras -

A Critical E-box in Barhl1 3' Enhancer Is Essential for Auditory Hair Cell Differentiation.

artículo científico publicado en 2019

A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.

artículo científico publicado en 2016

A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis

scientific article published on 01 February 2019

A deafness-associated mitochondrial DNA mutation altered the tRNA metabolism and mitochondrial function

artículo científico publicado en 2018

A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.

scientific article published on 17 August 2016

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy ⬇️

artículo científico publicado el 20 de febrero de 2012

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss ⬇️

artículo científico publicado el 7 de septiembre de 2010

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

artículo científico publicado en 2020

Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation

artículo científico publicado en 2019

Cytoplasmic tyrosyl-tRNA synthetase rescues the defect in mitochondrial genome maintenance caused by the nuclear mutation mgm104-1 in the yeast Saccharomyces cerevisiae ⬇️

artículo científico publicado el 1 de agosto de 1997

Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism

artículo científico publicado en 2019

Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.

artículo científico publicado en 2018

Genetic correction of <i>TRMU</i> allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients

artículo científico publicado en 2022

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss ⬇️

artículo científico publicado el 5 de noviembre de 2010

Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification ⬇️

artículo científico publicado el 1 de octubre de 2003

Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene

artículo científico publicado en 2017

Leber's Hereditary Optic Neuropathy Is Associated with the T12338C Mutation in Mitochondrial ND5 Gene in Six Han Chinese Families ⬇️

artículo científico publicado el 4 de diciembre de 2010

Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T>C mutation altered the assembly and function of complex I, apoptosis and mitophagy.

artículo científico publicado en 2018

Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees.

artículo científico publicado en 2017

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss in five Han Chinese pedigrees

artículo científico publicado el 1 de agosto de 2011

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene ⬇️

artículo científico publicado el 1 de octubre de 2011

Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees ⬇️

artículo científico publicado el 1 de enero de 2013

Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity ⬇️

artículo científico publicado el 1 de noviembre de 2010

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families ⬇️

artículo científico publicado el 4 de agosto de 2010

Mitochondrial genetics and human essential hypertension

artículo científico publicado el 1 de junio de 2012

Mitochondrial tRNAIle A4317G mutation may influence the pheno-typic manifestation of deafness-associated 12S rRNA A1555G mutation ⬇️

artículo científico publicado el 1 de junio de 2013

Molecular dynamics simulations on apo ADP/ATP carrier shed new lights on the featured motif of the mitochondrial carriers

scientific article published on 23 May 2019

Mutations in mitochondrial DNA associated with hypertension ⬇️

artículo científico publicado el 1 de septiembre de 2011

Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation

scientific article published on 09 December 2019

Photosensitive tyrosine analogues unravel site-dependent phosphorylation in TrkA initiated MAPK/ERK signaling

artículo científico publicado en 2020

Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment ⬇️

artículo científico publicado el 1 de marzo de 2013

Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Prov-ince ⬇️

artículo científico publicado el 1 de junio de 2012

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees ⬇️

artículo científico publicado el 8 de febrero de 2012

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 ⬇️

artículo científico publicado el 1 de julio de 2011

The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish

artículo científico publicado en 2016

The mitochondrial <I>ND5</I> T12338C mutation may be associ-ated with Leber’s hereditary optic neuropathy in two Chinese fami-lies ⬇️

artículo científico publicado el 1 de abril de 2011

The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families

artículo científico publicado el 1 de octubre de 2011

The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree ⬇️

artículo científico publicado el 22 de junio de 2011

Voltage-dependent anion channel involved in the mitochondrial calcium cycle of cell lines carrying the mitochondrial DNA A4263G mutation ⬇️

artículo científico publicado el 4 de diciembre de 2010

Lista de obras de

A Critical E-box in Barhl1 3' Enhancer Is Essential for Auditory Hair Cell Differentiation.

A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function.

A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis

A deafness-associated mitochondrial DNA mutation altered the tRNA metabolism and mitochondrial function

A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy ⬇️

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A &gt; G-induced hearing Loss ⬇️

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation

Cytoplasmic tyrosyl-tRNA synthetase rescues the defect in mitochondrial genome maintenance caused by the nuclear mutation mgm104-1 in the yeast Saccharomyces cerevisiae ⬇️

Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism

Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.

Genetic correction of <i>TRMU</i> allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss ⬇️

Identification and characterization of mouse MTO1 gene related to mitochondrial tRNA modification ⬇️

Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene

Leber's Hereditary Optic Neuropathy Is Associated with the T12338C Mutation in Mitochondrial ND5 Gene in Six Han Chinese Families ⬇️

Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T>C mutation altered the assembly and function of complex I, apoptosis and mitophagy.

Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees.

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss in five Han Chinese pedigrees

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene ⬇️

Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees ⬇️

Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity ⬇️

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families ⬇️

Mitochondrial genetics and human essential hypertension

Mitochondrial tRNAIle A4317G mutation may influence the pheno-typic manifestation of deafness-associated 12S rRNA A1555G mutation ⬇️

Molecular dynamics simulations on apo ADP/ATP carrier shed new lights on the featured motif of the mitochondrial carriers

Mutations in mitochondrial DNA associated with hypertension ⬇️

Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation

Photosensitive tyrosine analogues unravel site-dependent phosphorylation in TrkA initiated MAPK/ERK signaling

Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing impairment ⬇️

Spectrum and frequency of mitochondrial 12S rRNA variants in the Chinese subjects with nonsynrdomic hearing loss in Zhejiang Prov-ince ⬇️

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees ⬇️

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 ⬇️

The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish

The mitochondrial &lt;I&gt;ND5&lt;/I&gt; T12338C mutation may be associ-ated with Leber’s hereditary optic neuropathy in two Chinese fami-lies ⬇️

The mitochondrial tRNA(Thr) A15951G mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families

The tRNAMet 4435A&gt;G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree ⬇️

Voltage-dependent anion channel involved in the mitochondrial calcium cycle of cell lines carrying the mitochondrial DNA A4263G mutation ⬇️

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss ⬇️

The mitochondrial <I>ND5</I> T12338C mutation may be associ-ated with Leber’s hereditary optic neuropathy in two Chinese fami-lies ⬇️

The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree ⬇️