Taosheng Huang

发表

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

R. Chadwick, A. Busch, M. Vawter, 2014, Journal of Medical Genetics.

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

Jia Qu, Yi Tong, Min-Xin Guan, 2013, Mitochondrion.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

J. Rosenfeld, L. Reinholdt, F. Scaglia, 2017, Human molecular genetics.

Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases

J. Diao, Taosheng Huang, Li Yang, 2021, Journal of Nanobiotechnology.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

H. Cui, Renkui Bai, Taosheng Huang, 2020, Human mutation.

The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death

J. Svendsen, V. Kimonis, T. Šarić, 2013, Circulation. Cardiovascular genetics.

Pathobiological Pseudohypoxia as a Putative Mechanism Underlying Myelodysplastic Syndromes.

M. Caligiuri, N. Salomonis, L. Shih, 2018, Cancer discovery.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations

Leyla Esfandiari, Taosheng Huang, Yuqian Zhang, 2019, Analytical and Bioanalytical Chemistry.

PINK1-mediated Drp1S616 phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission

Zhuohua Zhang, Taosheng Huang, Xiao Ke, 2022, Signal Transduction and Targeted Therapy.

Creating Cell Model 2.0 Using Patient Samples Carrying a Pathogenic Mitochondrial DNA Mutation: iPSC Approach for LHON.

M. Daadi, Taosheng Huang, Yidong Bai, 2021, Methods in molecular biology.

Metabolic rescue in pluripotent cells from patients with mtDNA disease

J. C. Belmonte, L. Laurent, A. Terzic, 2015, Nature.

Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology

Nathan R. Qi, M. Weirauch, Takahisa Nakamura, 2018, Nature Communications.

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

B. Aronow, J. Harley, K. Kaufman, 2018, JCI insight.

Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene

A. Lin, G. Feldman, Taosheng Huang, 2002, Genetics in Medicine.

Chemically-induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells

G. Lynch, Yousheng Jia, Hamidreza Riazifar, 2013 .

Chemically Induced Specification of Retinal Ganglion Cells From Human Embryonic and Induced Pluripotent Stem Cells

G. Lynch, Yousheng Jia, Hamidreza Riazifar, 2013, Stem cells translational medicine.

The Molecular Mechanisms of OPA 1-Mediated

D. Wallace, Taosheng Huang, C. Brachmann, 2008 .

Premature aging is associated with higher levels of 8‐oxoguanine and increased DNA damage in the Polg mutator mouse

S. Horvath, S. Mai, L. Wark, 2022, Aging cell.

Neurodegenerative Diseases Associated with Mutations in SLC25A46

Lingqian Wu, Taosheng Huang, Zhuo Li, 2018, Recent Advances in Neurodegeneration.

Neurodegenerative Diseases Associated with Mutations in SLC25A46 Neurodegenerative Diseases Associated with Mutations in SLC25A46

Lingqian Wu, Taosheng Huang, Zhuo Li, 2018 .

Nanoscopic Quantification of Sub-mitochondrial Morphology, Mitophagy and Mitochondrial Dynamics in Patients With Mitochondrial Disease

J. Diao, Taosheng Huang, Li Yang, 2020 .

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

Heterozygous Mutation of Opa1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production

D. Wallace, Sha Tang, Taosheng Huang, 2009, PloS one.

Identification of the TBX5 transactivating domain and the nuclear localization signal.

E. Wang, Ling Li, Taosheng Huang, 2004, Gene.

Current advances in Holt-Oram syndrome.

Taosheng Huang, 2002, Current opinion in pediatrics.

Mitochondrial Genome Variants as a Cause of Mitochondrial Cardiomyopathy

Taosheng Huang, J. Slone, T. Campbell, 2022, Cells.

Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1 gene

A. Starr, R. Santarelli, P. Scimemi, 2011 .

The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis

S. Hogan, Taosheng Huang, T. Weaver, 2017, Scientific Reports.

Title Heterozygous Mutation of Opa 1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production Permalink

D. Wallace, Sha Tang, Taosheng Huang, 2009 .

Overexpression oftheInfluenza VirusPolymerase CanTitrate OutInhibition bytheMurineMxlProtein

M. Krystal, P. Staeheli, Taosheng Huang, 1992 .

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets

J. Chen, Hamidreza Riazifar, Taosheng Huang, 2015, Stem Cell Research & Therapy.

Mitochondrial replacement therapy: Genetic counselors' experiences, knowledge, and opinions

M. Myers, V. Pilipenko, Taosheng Huang, 2021, Journal of genetic counseling.

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

V. Kimonis, E. McCabe, W. Kulik, 2013, JIMD reports.

The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment

D. Wallace, Taosheng Huang, C. Brachmann, 2008, PLoS genetics.

Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene

V. Kimonis, Taosheng Huang, J. Whang, 2006, Genetics in Medicine.

Next‐Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy

Taosheng Huang, J. Slone, Zeyu Yang, 2022, Current protocols.

Light-activated mitochondrial fission through optogenetic control of mitochondria-lysosome contacts

J. Guan, Kangqiang Qiu, J. Diao, 2022, Nature Communications.

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.

M. Hegde, C. A. Valencia, Taosheng Huang, 2018, Journal of genetics and genomics = Yi chuan xue bao.

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

J. C. Belmonte, Jun Wu, D. Temiakov, 2016, Nature.

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.

A. Chavez-Badiola, D. Wells, Z. Merhi, 2017, Reproductive biomedicine online.

The special considerations of gene therapy for mitochondrial diseases

Taosheng Huang, J. Slone, 2020, npj Genomic Medicine.

Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA

Y. Chien, W. Hwu, L. Wong, 2020, bioRxiv.

Biparental Inheritance of Mitochondrial DNA in Humans

Y. Chien, W. Hwu, L. Wong, 2018, Proceedings of the National Academy of Sciences.

The current landscape for the treatment of mitochondrial disorders.

Taosheng Huang, B. Gui, J. Slone, 2018, Journal of genetics and genomics = Yi chuan xue bao.

Live Birth Derived From Oocyte Spindle Transfer to Prevent Mitochondrial Disease

A. Chavez-Badiola, D. Wells, Z. Merhi, 2017 .

Phenotypic and functional characterization of Bst+/− mouse retina

Alan C. Rupp, S. Hattar, R. Lang, 2015, Disease Models & Mechanisms.

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations

Taosheng Huang, Lin Fei, J. Slone, 2019, Cells.

Mitochondrial genome analysis of Ochotona curzoniae and implication of cytochrome c oxidase in hypoxic adaptation.

Jing Chen, Sha Tang, Taosheng Huang, 2008, Mitochondrion.

GENETICS OF CARDIAC MALFORMATIONS

Sha Tang, Taosheng Huang, 2008 .

The Role of NAD+ in Anti-Aging Therapies

Taosheng Huang, Xuqiang Liu, 2019 .

TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases.

H. Anton-Culver, K. Osann, P. Carpenter, 2008, Cancer research.

Xinjian Wang, Paula Amato, Andre Terzic, 2016, Cell stem cell.

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Xueqin Xu, Jicheng Du, Shaohua Tang, 2007, BMC Medical Genetics.

TBX3 Promotes Human Embryonic Stem Cell Proliferation and Neuroepithelial Differentiation in a Differentiation Stage‐dependent Manner

Taraneh Esmailpour, Taosheng Huang, 2012, Stem cells.

Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy.

Taosheng Huang, 2011, Current protocols in human genetics.

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

D. Lindquist, Q. Lu, Z. Khuchua, 2017, Human molecular genetics.

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

A. Starr, R. Santarelli, Taosheng Huang, 2009, Brain Research.

Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner

K. Ocorr, W. Pak, P. Shahrestani, 2009, PloS one.

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

M. Sharpley, L. Moore, D. Wallace, 2012, Proceedings of the National Academy of Sciences.

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia

J. Winkelmann, P. Hedera, D. Gilbert, 2021, Movement disorders : official journal of the Movement Disorder Society.

65 YEARS OF THE DOUBLE HELIX: The advancements of gene editing and potential application to hereditary cancer.

Taosheng Huang, Zi-Ying Tan, J. Ngeow, 2018, Endocrine-related cancer.

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets

J. Chen, Hamidreza Riazifar, Taosheng Huang, 2015, Stem Cell Research & Therapy.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

L. Reinholdt, M. McDonald, D. Tchapyjnikov, 2018, Journal of Human Genetics.

Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology

Nathan R. Qi, M. Weirauch, Takahisa Nakamura, 2018, Nature Communications.

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

J. Qu, Xiaoling Liu, Taosheng Huang, 2016, Human molecular genetics.

Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice.

Yueh-Chiang Hu, Taosheng Huang, Li Yang, 2020, Human molecular genetics.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

R. Schüle, R. Lodi, Yaping Yang, 2015, Nature Genetics.

Systemic immune-inflammation index changes predict outcome in stage III non-small-cell lung cancer patients treated with concurrent chemoradiotherapy.

Taosheng Huang, D. Guo, S. Ji, 2021, Future oncology.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Advancement in Mammary Stem Cell Research

Taraneh Esmailpour, Taosheng Huang, 2008 .

Integrated analysis of the molecular pathogenesis of FDXR-associated disease

L. Reinholdt, Li Yang, Taosheng Huang, 2020, Cell Death & Disease.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

L. Reinholdt, M. McDonald, M. Lemmon, 2018, Journal of Human Genetics.

Left ventricular noncompaction is associated with mutations in the mitochondrial genome.

Sha Tang, Taosheng Huang, A. Batra, 2010, Mitochondrion.

TBX5, a gene mutated in Holt–Oram syndrome, is regulated through a GC box and T‐box binding elements (TBEs)

Taosheng Huang, Christopher A. Price, Guifeng Sun, 2004, Journal of cellular biochemistry.

The Role of Mitochondrial-related Nuclear Genes in Age-related Common Disease.

Taosheng Huang, J. Slone, Huanzheng Li, 2020, Mitochondrion.

Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice

Taosheng Huang, Li Yang, L. Queme, 2020, Molecular therapy. Methods & clinical development.

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Taosheng Huang, B. Gui, J. Slone, 2017, Front. Genet..

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

Taosheng Huang, Meng Wang, M. Guan, 2016, Nucleic acids research.

A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential

Huawei Li, Taosheng Huang, Meng Wang, 2014, Nucleic acids research.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

M. Dattani, T. Révész, V. Plagnol, 2014, Journal of Medical Genetics.

Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

D. J. Driscoll, Kelly L. Adams, J. Rosenfeld, 2016, American journal of medical genetics. Part A.

Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth

I. Chepelev, L. Muglia, B. Namjou, 2021, Human mutation.

Species identification through mitochondrial rRNA genetic analysis

Li Yang, Ronghua Li, Ronghua Li, 2014, Scientific Reports.

TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model

G. Gulsen, X. Shang, Taraneh Esmailpour, 2011, BMC Developmental Biology.

2 Approach to Single-Gene Disorders

S. Keiles, Taosheng Huang, 2012 .

TBX3 and Its Isoform TBX3+2a Are Functionally Distinctive in Inhibition of Senescence and Are Overexpressed in a Subset of Breast Cancer Cell Lines

J. Gray, Chira Chen, W. Fan, 2004, Cancer Research.

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system.

Sha Tang, Taosheng Huang, Sha Tang, 2010, BioTechniques.

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy

Ying Huang, Taosheng Huang, Zhongyao Xu, 2016, Journal of clinical gastroenterology.

A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

E. Strehle, Taosheng Huang, A. Vaglio, 2007, Genetic testing.

The special considerations of gene therapy for mitochondrial diseases

Taosheng Huang, J. Slone, 2020, npj Genomic Medicine.

The spectrum of 4q- syndrome illustrated by a case series.

I. Simonic, S. Mehta, E. Strehle, 2012, Gene.

First live birth using human oocytes reconstituted by spindle nuclear transfer for mitochondrial DNA mutation causing Leigh syndrome

A. Chavez-Badiola, D. Wells, Taosheng Huang, 2016 .

Two Novel Mutations in SALL1 Cause Townes-Brocks-Like Syndrome: New Findings from an Old Case

J. Mulliken, F. Zou, Kejian Zhang, 2019 .

Supplementary Information for Slone et al. (2019) (PNAS: 201909445) Response to Salas et al. (2019) (bioRxiv: 585752), “Extraordinary claims require extraordinary evidence in the case of asserted mtDNA biparental inheritance.”

Taosheng Huang, P. Atwal, S. Luo, 2019 .

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.

J. Qu, Xiaoling Liu, Taosheng Huang, 2015, Investigative ophthalmology & visual science.

2D MoS2 and BN Nanosheets Damage Mitochondria through Membrane Penetration.

Dechang Li, B. Ji, Kangqiang Qiu, 2023, ACS nano.

Design and Evaluation of a Method for Testing Polymorphisms of Folate-Related Genes Using the Luminex Liquichip System.

Taosheng Huang, Xiwen Jiang, Weiping Lin, 2020, Genetic testing and molecular biomarkers.

PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.

Taosheng Huang, Xiangtian Zhou, Cheng Ai, 2020, The Journal of clinical investigation.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism

D. Witte, K. Bove, Ammar Husami, 2016, PloS one.

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

D. Witte, N. Leslie, Z. Khuchua, 2016, Human pathology.

Super‐resolution analyzing spatial organization of lysosomes with an organic fluorescent probe

J. Diao, Lei Wang, Taosheng Huang, 2022, bioRxiv.

A Multiplex Asymmetric Reverse Transcription-PCR Assay Combined With an Electrochemical DNA Sensor for Simultaneously Detecting and Subtyping Influenza A Viruses

Yun Zhu, Bao-Ping Xu, Zhengde Xie, 2018, Front. Microbiol..

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Xiaoling Liu, Taosheng Huang, Yidong Bai, 2016, Human molecular genetics.

Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber’s hereditary optic neuropathy

T. Zhu, Xiaoling Liu, Taosheng Huang, 2018, Human molecular genetics.

Mitochondria and Their Role in Human Reproduction.

Yunxia Cao, Taosheng Huang, J. Slone, 2020, DNA and cell biology.

Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions

D. Wallace, R. Haas, W. Fan, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations.

Ammar Husami, C. A. Valencia, Taosheng Huang, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments

Y. Chien, W. Hwu, L. Wong, 2019, Proceedings of the National Academy of Sciences.

Application of super-resolution microscopy in mitochondria-dynamic diseases.

Li Yang, Taosheng Huang, J. Slone, 2023, Advanced drug delivery reviews.

DNA methylation networks underlying mammalian traits

Joseph A. Cook, S. Horvath, A. Lu, 2023, Science.

Prospective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Taosheng Huang, B. Gui, J. Slone, 2017, Front. Genet..

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

J. Seidman, S. Weremowicz, R. Bruzzone, 1999, Proceedings of the National Academy of Sciences of the United States of America.

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

Sha Tang, Taosheng Huang, S. Danda, 2009, Genetic testing and molecular biomarkers.

Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions

Sha Tang, Taosheng Huang, Yuqi Gao, 2010, Clinical chemistry and laboratory medicine.

Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

K. Kaufman, E. Stucke, P. Putnam, 2018, JCI insight.

TBX3 Promotes Human Embryonic Stem Cell Proliferation and Neuroepithelial Differentiation in a Differentiation Stage‐dependent Manner

Taraneh Esmailpour, Taosheng Huang, 2012, Stem cells.

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

L. Moore, D. Wallace, J. Platt, 2012, Proceedings of the National Academy of Sciences.

Reply to Annis et al.: Is quasi-Mendelian mtDNA competition enough to drive transmission of paternal mtDNA?

Taosheng Huang, P. Atwal, S. Luo, 2019, Proceedings of the National Academy of Sciences.

Multiple congenital anomalies associated with in utero exposure of phenytoin: possible hypoxic ischemic mechanism?

L. Holmes, Taosheng Huang, H. Lyon, 2003, Birth defects research. Part A, Clinical and molecular teratology.

No evidence for intermolecular recombination in human fibroblast and blood mtDNA from individuals with biparental mtDNA transmission

L. Tallon, Taosheng Huang, S. Luo, 2020, bioRxiv.

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing.

C. A. Valencia, Taosheng Huang, Rachel Brockhage, 2018, Journal of genetics and genomics = Yi chuan xue bao.

High‐density array comparative genomic hybridization analysis and follow‐up of a child with a de novo complex chromosome rearrangement detected prenatally

Taosheng Huang, Yao-Shan Fan, A. Vaglio, 2007, Prenatal diagnosis.