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Taosheng Huang[edit]

Taosheng Huang
MD, PhD
Born
Taosheng Huang

(1961-12-20) December 20, 1961 (age 62)
Fujian Province, China
NationalityUnited States
Alma mater
Awards
Scientific career
FieldsGenetics Molecular Biology
Institutions

Taosheng Huang, MD, Ph.D. is a physician-scientist with substantial academic achievements and professional experience in translational research, specifically, in human mitochondrial genetics. He is a full Professor and Director of the Molecular Diagnostic Laboratory in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center (CCHMC). Dr. Huang has published over 100 manuscripts in many impactful journals.


Education and Training[edit]

Dr. Huang received his MD degree from Fujian Medical University in Fujian Province, China, in 1983 and Master’s Degree in Biochemistry at the Army Medical University in Chongqing, China in 1986. He went on to earn his PhD degree in Biomedical Science at Icahn School of Medicine at Mount Sinai in New York on 1991. Following his PhD training, Dr. Huang pursued his Postdoctoral Fellowship at the Holland Laboratory at the American Red Cross (1991-1993). He completed his Residency training in Pediatrics at Georgetown University School of Medicine in Washington DC (1993-1996). From 1996-1999, he received further training through the Clinical Fellowship in Clinical Genetics and Clinical Molecular Genetics at Boston Children’s Hospital of Harvard Medical School. Dr. Huang is triple board-certified in clinical genetics, molecular genetics and pediatrics. He has also worked with the world-renown cardiovascular geneticists Christine Seidman, MD and Jonathan Seidman, Ph.D. at the Howard Hughes Medical Institute at Harvard Medical School (1997-2001). Dr. Huang also completed the Leadership & Management program certified by University of Notre Dame in 2017.

Career[edit]

Dr. Huang began his career as an instructor in the Department of Genetics at the Harvard Medical School, Massachusetts, USA from 1999-2001. During this period, he worked as an attending physician at Boston Children’s Hospital. When he was at Harvard Medical School in Boston, he served as the Medical Director and Vice President of the New England Area chapter of the Chinese American Medical Association. He has also been actively engaged in imparting training to students and clinical geneticists in China.

Upon becoming an independent principal research investigator at the University of California, Irvine in 2001, he started to explore the molecular basis of genetic syndromes. Upon applying the knowledge gained from these discoveries, he was the very first to establish the link between TBX3 and cancer.[1]

In 2012, Dr. Huang was appointed by Cincinnati Children's Hospital Medical Center to be the founding director of the Mitochondrial Medicine program. As a physician-scientist, he was able to successfully and rapidly integrate excellent patient services, state-of-the-art genetic diagnostics, and top-tier genetic research, making the mitochondrial medicine program one of the most comprehensive in the nation. He has been a directorial member of several leadership boards. He is actively involved in various International Exchange programs, particularly between the United States and China, and is a frequently invited speaker at many conventions.

Research and Discoveries[edit]

Dr. Huang has contributed towards basic science and clinical research in human genetics and genetic syndromes, particularly in mitochondrial disorders. Upon becoming an independent investigator after moving to University of California, Irvine in 2001, he worked on TBX3 and its relationship with breast cancer, the genetics of optic atrophy and other mitochondrial diseases. His laboratory developed a Drosophila model to develop a therapy for genetic disease and became the very first group to link TBX3 to cancer. During his tenure at UC Irvine, he served as the director of the Clinical laboratory improvement amendments (CLIA)-certified MitoMed Molecular Diagnostics Laboratory, which focused on the molecular basis of mitochondrial disease and the identification mutations in the mitochondrial genome. As Director of the Molecular Diagnostic lab at Cincinnati Children's Hospital Medical Center, Dr. Huang is currently interested in identifying disease-causing genes and their molecular mechanisms. His group has identified many novel genes that are linked with human diseases, and has used induced pluripotent stem cell models and CRISPR/Cas9-produced mouse models in his lab to explore the pathogenesis of mutations in those specific genes. His research on mitochondrial replacement therapy undertaken in collaboration with Dr. John Zhang lead to the "three parent baby" which was ranked among the top 10 science stories in 2016 by Science News and Nature.[2][3][4]

Recent Research Work and Notable Discoveries[edit]

Discovery of novel disease-causing genes[edit]

Dr. Huang’s group has identified and published seven novel genes in the past 5 years that are associated with human diseases. The relevant genes and their associated disorders include SLC25A46 (Abrams et al, Nat Genet, 2016) and FDXR (Peng et al HMG, 2017) in optic atrophy and peripheral neuropathy, NARS2 in Leigh syndrome (Simon et al, PLOS Genet, 2015), NAA10 in Lenz micropthalmia syndrome (Esmailpour et al, JMG, 2014), and DHTKD1 and OGDHL in eosinophilic esophagitis (Sherrill et al, 2018, JCI Insight).[5][6][7][8][9] For these novel disease-causing genes, his group has also established and characterized disease-causing genes with both an induced pluripotent stem cell model and a CRISPR/Cas9 produced mouse model (Li et al HMG 2017) in order to better study pathogenesis and develop treatments.[10]

Acetyl-CoA Carboxylase Gene and its Association with Insulin Secretion Abnormalities[edit]

Recently, he has also identified Acetyl-CoA Carboxylase Gene (ACACB) mutations in humans to be associated with abnormal insulin secretion.[11] Understanding the molecular mechanisms by which ACACB regulates insulin could lead to a better understanding of diabetes and the development of a new treatment for this common disease.

Differentiated Retinal Ganglion Cell Derivation from Pluripotent Stem Cells[edit]

Dr. Huang’s laboratory was the very first to develop a novel stepwise, chemical protocol for the cellular differentiation of human embryonic stem (hES) cells and induced pluripotent stem (iPS) cells into functional retinal ganglion cells (RGCs) (Riazifar et al 2014, Stem cells translational medicine; Chen et al Stem Cell Res Ther, 2016).[12] His studies showed that a single chemical Notch inhibitor, DAPT, can induce PAX6/RX-positive stem cells to undergo differentiation into functional RGCs. Pre-clinical trials are now on-going in animals.

Aging Associated Mitochondrial Mutations and its Epigenetic Consequences[edit]

In collaboration with Dr. Mitalipov’s group, Dr. Huang’s group demonstrated that mutations of the mitochondrial genome accumulate rapidly with age in somatic tissues, leading to defects in mitochondrial metabolism (Kang et al, Cell Stem Cell, 2016).[13] Increased production of reactive oxygen species (ROS) due to mitochondrial dysfunction can affect telomere shortening and methylation in CpG islands in the nuclear genome. In addition, ROS was found to influence nuclear DNA methylation. Moreover, ROS has the ability to downregulate gene expression via CpG island methylation of the promoter. Dr. Huang’s group is in the process of testing his hypothesis that the mitochondrial dysfunction caused by age-related mutations in mtDNA results in increased ROS production and is linked to epigenetic markers of aging.

Biparental mtDNA Inheritance[edit]

Recently, Dr. Huang has identified multiple unrelated multi-generation families with a high level of mtDNA heteroplasmy. A panoramic understanding of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominant-like inheritance mode (Luo et al, PNAS, 2018).[14] His results challenge the central dogma of maternal inheritance of mtDNA and strongly support the possibility of paternal mtDNA transmission. Elucidating the molecular mechanism may provide alternative approaches to reducing transmission of mutant mtDNA from carrier women to offspring, thereby providing a potential avenue for treatment.

Awards and honors[edit]

Dr. Huang has won numerous awards including:

List of Publications[edit]

  • Taosheng Huang, Peter Palese and Mark Krystal (1990) Determination of influenza virus proteins required for genome replication. Journal of Virology 64:5669-5673. PMID: 2214032; PMCID: PMC248627.
  • Taosheng Huang, Jovan Pavloic, Peter Staeheli and Mark Krystal (1992) Overexpression of the influenza polymerase protein can titrate out inhibition by the murine Mx1 protein. Journal of Virology, 66:4154-4160. PMID: 1602538; PMCID: PMC241218.
  • Fan, W., Huang, X., Chen, C., Gray, J. & Huang, T. (2004) TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines, Cancer research. 64, 5132-9. PMID: 15289316.
  • Pan, H. F., Long, G. F., Li, Q., Feng, Y. N., Lei, Z. Y., Wei, H. W., Huang, Y. Y., Huang, J. H., Lin, N., Xu, Q. Q., Ling, S. Y., Chen, X. J. & Huang, T. (2007) Current status of thalassemia in minority populations in Guangxi, China, Clinical genetics. 71, 419-26. PMID: 17489847.
  • Yarosh, W., Monserrate, J., Tong, J. J., Tse, S., Le, P. K., Nguyen, K., Brachmann, C. B., Wallace, D. C. & Huang, T. (2008) The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment, PLoS genetics. 4, e6. PMID: 18193945.
  • Yarosh, W.,* Barrientos, T.,* Esmailpour, T., Lin, L., Carpenter, P. M., Osann, K., Anton-Culver, H. & Huang, T. (2008) TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases, Cancer research. 68, 693-9. *These authors contribute equally PMID: 18245648.
  • Taraneh Esmailpour and Taosheng Huang (2008), Advancement in mammary stem cell research, review, J. Cancer Mol. 4(5): 131-138
  • Tang, S., Le, P. K., Tse, S., Wallace, D. C. & Huang, T. (2009) Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production, PloS one. 4, e4492. PMID: 19221591; PMCID: PMC2637430.
  • Shahrestani, P., Leung, H. T., Le, P. K., Pak, W. L., Tse, S., Ocorr, K. & Huang, T. (2009) Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner, PloS one. 4, e6867.
  • Huang, T., Santarelli, R. & Starr, A. (2009) Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals, Brain research. 1300, 97-104. PMID: 19718456.
  • Tang, S. & Huang, T. (2010) Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system, BioTechniques. 48, 287-96. PMID: 20569205.
  • Tang, S., Batra, A., Zhang, Y., Ebenroth, E. S. & Huang, T. (2010) Left ventricular noncompaction is associated with mutations in the mitochondrial genome, Mitochondrion. 10, 350-7. PMID: 20211276.
  • Liu, J., Esmailpour, T., Shang, X., Gulsen, G., Liu, A. & Huang, T. (2011) TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model, BMC developmental biology. 11, 65. PMID: 22039763.
  • Taosheng Huang (2011), Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy; Current Protocols in Human Genetics 19.8.1-19.8.12. PMID: 21975941; PMCID: PMC4687495
  • Ji, F., Sharpley, M. S., Derbeneva, O., Alves, L. S., Qian, P., Wang, Y., Chalkia, D., Lvova, M., Xu, J., Yao, W., Simon, M., Platt, J., Xu, S., Angelin, A., Davila, A., Huang, T., Wang, P. H., Chuang, L. M., Moore, L. G., Qian, G. & Wallace, D. C. (2012) Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans, Proceedings of the National Academy of Sciences of the United States of America. 109, 7391-6. PMID: 22517755; PMCID: PMC3358837.
  • Zhang, C., Huang, V. H., Simon, M., Sharma, L. K., Fan, W., Haas, R., Wallace, D. C., Bai, Y. & Huang, T. (2012) Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions, FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 26, 4914-24. PMID: 22925728.
  • Esmailpour, T. & Huang, T. (2012) TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner, Stem cells. 30, 2152-63.PMID: 22865636, PMCID: PMC3517731
  • Riazifar H, Jia Y, Chen J, Lynch G. & Huang T. (2014) Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells, Stem cells translational medicine. 3, 424-32.PMID: 24493857
  • Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V & Huang T. (2014) A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. Journal of medical genetics. 51, 185-96. PMID: 24431331
  • Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros FN, Lang RA, Sadun AA, Hattar S, Guan MX & Huang T. (2015) Phenotypic and functional characterization of Bst+/- mouse retina, Disease models & mechanisms. 8, 969-76. PMID: 26035379; PMCID: PMC4527279.
  • Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC & Mitalipov S. (2015) Metabolic rescue in pluripotent cells from patients with mtDNA disease, Nature. 524, 234-8. PMID: 26176921.
  • Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schule R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Nemeth AH, Carelli V#, Huang T#$, Zuchner S#$ & Dallman JE.# (2015) Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder, Nature genetics. 47, 926-32. #These authors contributed equally, $These are the corresponding authors. PMID: 26168012; PMCID: PMC4520737.
  • Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T# & Riazuddin S#. (2015) Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome, PLoS genetics. 11, e1005097. # Corresponding Author. PMID: 25807530; PMCID: PMC4373692
  • Chen J, Riazifar H, Guan MX, Huang T. (2016) Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets. Stem Cell Res Ther, 7(1):2. PMID: 26738566; PMCID: PMC4704249.
  • Jesse Slone, John Zhang and Taosheng Huang, Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases, J Mol Genet Med 2017 Jun; 11(2) pii:258. PMID:29118824.
  • Kang, E.#, X. Wang#, R. Tippner-Hedges, H. Ma, C.D. Folmes, N.M. Gutierrez, Y. Lee, C. Van Dyken, R. Ahmed, Y. Li, A. Koski, T. Hayama, S. Luo, C.O. Harding, P. Amato, J. Jensen, D. Battaglia, D. Lee, D. Wu, A. Terzic, D.P. Wolf, T. Huang†, and S. Mitalipov†. 2016. Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs. Cell stem cell. 18:625-636. PMID: 27151456. # co-first authors; †corresponding authors
  • Kang, E., J. Wu, N.M. Gutierrez, A. Koski, R. Tippner-Hedges, K. Agaronyan, A. Platero-Luengo, P. Martinez-Redondo, H. Ma, Y. Lee, T. Hayama, C. Van Dyken, X. Wang, S. Luo, R. Ahmed, Y. Li, D. Ji, R. Kayali, C. Cinnioglu, S. Olson, J. Jensen, D. Battaglia, D. Lee, D. Wu, T. Huang, D.P. Wolf, D. Temiakov, J.C.I. Belmonte, P. Amato, and S. Mitalipov. 2016. Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature. 540, 270–275. PMID: 27919073.
  • Li, Z., Peng, Y., Hufnagel, R.B., Hu, Y.C., Zhao, C., Queme, L.F., Khuchua, Z., Driver, A.M., Dong, F., Lu, Q.R., et al. Huang, T, (2017). Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Human molecular genetics 26, 3776-3791. PMID: 28934388. Cover story
  • John Zhang,* Hui Liu, Shiyu Luo, Zaher Merhi, Zhuo Lu, Alejandro Chávez-Badiola, Zitao Liu, Mingxue Yang, Santiago Munné, Michalis Konstandinidis, Sherman J. Silber, Dagan Wells, Taosheng Huang* Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. Reproductive BioMedicine On-line, (2017) 34(4):361-368. PMID: 28385334. *Corresponding author
  • Response: First birth following spindle transfer - should we stay or should we go? , Reproductive BioMedicine On-line 2017, PMID: 28780381. Doi: http://dx.doi.org/10.1016/j.rbmo.2017.07.004.
  • Slone J, Zhang J and Huang T, Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases, 2017, Journal of Molecular and Genetic Medicine, PMID: 29118824; PMCID: PMC5673251.
  • Baoheng Gui, Jesse Slone, and Taosheng Huang, Perspective: Is random monoallelic expression a contributor to phenotypic variability of autosomal dominant disorders? 2017, Front. Genet. 8:191. PMID: 29250101.
  • Yanyan Peng, Alex C. Valencia, Jill Rosenfeld Mokry, Megan Truitt Cho, Alice Basinge, Zhuo Li, Baoheng Gui, Brenda Alvarez-Leon, Pilar L. Magoulas, Steven P. Sparagana, Solange Gril, Jun Ma, Josephine Chong, Belinda Harris, Peter Heydemann, George Hoganson, Rich Dineen, Maria-Renee Plona, James B. Gibson, Laura G. Reinholdt#, Sha Tang#, Taosheng Huang#@, # Contribute equally; @ Correspondence Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. 2017, Human Molecular Genetics, PMID: 29040572.
  • Jesse Slone, Baoheng Gui and Taosheng Huang, The current landscape for the treatment of mitochondrial disorders, 2018, Journal of Genetics and Genomics, 45:71-77, PMID: 29502956
  • Rachel Brockhage, Jesse Slone, Zeqian Ma, Madhuri R. Hegde, C. Alexander Valencia, Taosheng Huang, Validation of Mitochondrial DNA (mtDNA) Copy Number Derived from Whole Genome Sequencing (WGS) and Prospects for Diagnostic Potential, 2018, Journal of Genetics and Genomics 45 (2018) 333-335, PMID: 29910094
  • Zhuo Li, Jesse Slone, Linqian Wu, Taosheng Huang, Neurodegenerative Diseases Associated with Mutations in SLC25A46, IntechOpen, Book Chapter Neurodegeneration, 2018, https://www.intechopen.com/online-first/neurodegenerative-diseases-associated-with-mutations-in-slc25a46
  • Joseph D. Sherrill, Kiran KC, Xinjian Wang, Ting Wen, Ting Wen, Adam Chamberlin, Emily M. Stucke, Margaret H. Collins, J. Pablo Abonia, Yanyan Peng, Qiang Wu, Philip E. Putnam, Phillip J. Dexheimer, Bruce J. Aronow, Leah C. Kottyan,7Kenneth M. Kaufman, John B. Harley, Taosheng Huang†, and Marc E. Rothenberg† †Contribute Equally, Whole exome sequencing identifies a genetic link between mitochondrial dysfunction and eosinophilic gastrointestinal disease, Submitted to Journal of Clinical Investigation Insight, 2018;3(8):e99922.
  • Yoshihiro Hayashi, Yue Zhang, Xiaomei Yan, Jinqin Liu, Kwangmin Choi, Bing Li, Goro Sashida, Yanyan Peng, Asumi Yokota, Zefeng Xu, Rui Huang, Jingya Wang, Yunzhu Dong, Yile Zhou, Jieyu Wang, Ling-Yun Wu, Jiachen Bu, Aili Chen, Xinghui Zhao, Xiujuan Sun, Kashish Chetal, Andre Olsson, Hironori Harada, Lee-Yung Shih, William Tse, James Bridges, Michael Caligiuri, Taosheng Huang, Yi Zheng, David Witte, Qianfei Wang, Cheng-Kui Qu, Nathan Salomonis, H. Leighton Grimes, Stephen Nimer, zhijian xiao, and Gang Huang, Pathobiologic Pseudohypoxia as a Putative Mechanism Underlying Myelodysplastic Syndromes, 2018,Cancer Discovery, 8(11); 1438–57, PMID: 30139811
  • Jesse Slone, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, Mays Antonine El-Dairi, Dmitry Tchapyjnikov, Laura A Gonzalez-Krellwitz, Elizabeth A. Sellars, Allyn McConkie-Rosell, Laura G. Reinholdt, Taosheng Huang, Biallelic mutations in FDXR cause neurodegeneration, 2018, Journal of Human Genetics, 63(12):1211-1222, PMID: 30250212
  • Shiyu Luo, C. Alexander Valenciaa, Jinglan Zhang, Ni-Chung Lee, Jesse Slone, Baoheng Guia,, Xinjian Wang, Zhuo Lia, Sarah Dell, Jenice Brown, Stella Maris Chen, Yin-Hsiu Chien, Wuh-Liang Hwu, Pi-Chuan Fan, Lee-Jun Wong, Paldeep S. Atwalf, and Taosheng Huang, Biparental Inheritance of Mitochondrial DNA in Humans, PNAS, 2018, 115, 51:13039–13044; PMID: 30478036 PMCID: PMC6304937


Press Articles Regarding Research[edit]

Maternal Inheritance of Mitochondrial DNA
  • [1] Fathers Can Pass Mitochondrial DNA to Children
  • [2] Radical Findings Show Mitochondrial DNA Can Be Inherited From Dads
  • [3] Not Your Mom's Genes: Mitochondrial DNA Can Come from Dad
  • [4] NIH Grant Information
  • [5] Dads, not just moms, can pass along mitochondrial DNA
  • [6] Mitochondrial DNA can be inherited from fathers
  • [7] Males can pass on mitochondrial DNA
  • [8] Mitochondrial DNA Can Be Paternally Inherited in Humans, New Study Finds
  • [9] Mitochondrial DNA can be inherited from fathers
  • [10] Moms Aren't the Only Ones who Pass on Mitochondrial DNA
"Three Parent Baby"
  • [11] Science News: Top 10 science stories of 2016: Gravitational waves, Zika, Proxima b and more
  • [12] Nature: 2016 in news: The science events that shaped the year
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations
  • [13] Unchecked Mitochondrial DNA Mutations Could Be a Problem for Stem Cell Therapies
  • [14] Unchecked mitochondrial DNA mutations could be a problem for stem cell therapies
  • [15] Study: Hidden genetic mutations in patient-derived stem cells could ultimately undermine therapuetic benefits
  • [16] Stem Cells Should be Screened for Mitochondrrial DNA Mutations Prior to Clinical Use, Study Suggests
  • [17] Unchecked mitochondrial DNA mutations could be a problem for stem cell therapies
Other Notable Press
  • [18] When Diagnosis Brings Relief

External links[edit]

  1. ^ Huang, Taosheng; Gray, Joe; Chen, Chira; Huang, Xu; Fan, Weiwei (August 1, 2004). "TBX3 and Its Isoform TBX3+2a Are Functionally Distinctive in Inhibition of Senescence and Are Overexpressed in a Subset of Breast Cancer Cell Lines". Cancer Research. 64 (15): 5132–5139. doi:10.1158/0008-5472.CAN-04-0615. ISSN 0008-5472. PMID 15289316.
  2. ^ Zhang, John; Liu, Hui; Luo, Shiyu; Lu, Zhuo; Chávez-Badiola, Alejandro; Liu, Zitao; Yang, Mingxue; Merhi, Zaher; Silber, Sherman J. (04 2017). "Live birth derived from oocyte spindle transfer to prevent mitochondrial disease". Reproductive Biomedicine Online. 34 (4): 361–368. doi:10.1016/j.rbmo.2017.01.013. ISSN 1472-6491. PMID 28385334. {{cite journal}}: Check date values in: |date= (help)
  3. ^ Staff, Science News (December 23, 2016). "Top 10 science stories of 2016: Gravitational waves, Zika, Proxima b and more". Science News. Retrieved May 14, 2019.
  4. ^ Abbott, Alison; Butler, Declan; Castelvecchi, Davide; Cressey, Daniel; Gibney, Elizabeth; Ledford, Heidi; Lee, Jane J.; Morello, Lauren; Reardon, Sara (December 22, 2016). "2016 in news: The science events that shaped the year". Nature News. 540 (7634): 496. doi:10.1038/540496a.
  5. ^ Abrams, Alexander J.; Hufnagel, Robert B.; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A.; Campeanu, Ion J.; Griffin, Laurie B.; Groenewald, Saskia (2015-8). "Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder". Nature Genetics. 47 (8): 926–932. doi:10.1038/ng.3354. ISSN 1546-1718. PMC PMCPMC4520737. PMID 26168012. {{cite journal}}: Check |pmc= value (help); Check date values in: |date= (help)
  6. ^ Peng, Yanyan; Shinde, Deepali N.; Valencia, C. Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie (12 15, 2017). "Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy". Human Molecular Genetics. 26 (24): 4937–4950. doi:10.1093/hmg/ddx377. ISSN 1460-2083. PMC PMCPMC5886230. PMID 29040572. {{cite journal}}: Check |pmc= value (help); Check date values in: |date= (help)
  7. ^ Simon, Mariella; Richard, Elodie M.; Wang, Xinjian; Shahzad, Mohsin; Huang, Vincent H.; Qaiser, Tanveer A.; Potluri, Prasanth; Mahl, Sarah E.; Davila, Antonio (2015-3). "Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome". PLoS genetics. 11 (3): e1005097. doi:10.1371/journal.pgen.1005097. ISSN 1553-7404. PMC PMCPMC4373692. PMID 25807530. {{cite journal}}: Check |pmc= value (help); Check date values in: |date= (help)CS1 maint: unflagged free DOI (link)
  8. ^ Esmailpour, Taraneh; Riazifar, Hamidreza; Liu, Linan; Donkervoort, Sandra; Huang, Vincent H.; Madaan, Shreshtha; Shoucri, Bassem M.; Busch, Anke; Wu, Jie (2014-3). "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome". Journal of Medical Genetics. 51 (3): 185–196. doi:10.1136/jmedgenet-2013-101660. ISSN 1468-6244. PMC PMCPMC4278941. PMID 24431331. {{cite journal}}: Check |pmc= value (help); Check date values in: |date= (help)
  9. ^ Sherrill, Joseph D.; Kc, Kiran; Wang, Xinjian; Wen, Ting; Chamberlin, Adam; Stucke, Emily M.; Collins, Margaret H.; Abonia, J. Pablo; Peng, Yanyan (April 19, 2018). "Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis". JCI insight. 3 (8). doi:10.1172/jci.insight.99922. ISSN 2379-3708. PMC PMCPMC5931135. PMID 29669943. {{cite journal}}: Check |pmc= value (help)
  10. ^ Li, Zhuo; Peng, Yanyan; Hufnagel, Robert B.; Hu, Yueh-Chiang; Zhao, Chuntao; Queme, Luis F.; Khuchua, Zaza; Driver, Ashley M.; Dong, Fei (October 1, 2017). "Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice". Human Molecular Genetics. 26 (19): 3776–3791. doi:10.1093/hmg/ddx262. ISSN 0964-6906. PMC PMCPMC6074941. PMID 28934388. {{cite journal}}: Check |pmc= value (help)
  11. ^ Nakamura, Takahisa; Siomi, Haruhiko; Mercer, Carol A.; Thomas, Hala Einakat; Qi, Nathan R.; Divanovic, Senad; Weirauch, Matthew T.; Huang, Taosheng; Xiaoting Chen (September 10, 2018). "Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology". Nature Communications. 9 (1): 3658. doi:10.1038/s41467-018-05870-6. ISSN 2041-1723.
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