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Synthetic biology and regulatory networks: where metabolic systems biology meets control engineering.

Journal of the Royal Society, Interface

He F, Murabito E, Westerhoff HV.
PMID: 27075000
J R Soc Interface. 2016 Apr;13(117). doi: 10.1098/rsif.2015.1046. Epub 2016 Apr 13.

Metabolic pathways can be engineered to maximize the synthesis of various products of interest. With the advent of computational systems biology, this endeavour is usually carried out through in silico theoretical studies with the aim to guide and complement...

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He F, Murabito E, Westerhoff HV. Synthetic biology and regulatory networks: where metabolic systems biology meets control engineering. J R Soc Interface. 2016;13(117)doi: 10.1098/rsif.2015.1046.
He, F., Murabito, E., & Westerhoff, H. V. (2016). Synthetic biology and regulatory networks: where metabolic systems biology meets control engineering. Journal of the Royal Society, Interface, 13(117), . https://doi.org/10.1098/rsif.2015.1046
He, Fei, et al. "Synthetic biology and regulatory networks: where metabolic systems biology meets control engineering." Journal of the Royal Society, Interface vol. 13,117 (2016). doi: https://doi.org/10.1098/rsif.2015.1046
He F, Murabito E, Westerhoff HV. Synthetic biology and regulatory networks: where metabolic systems biology meets control engineering. J R Soc Interface. 2016 Apr;13(117). doi: 10.1098/rsif.2015.1046. Epub 2016 Apr 13. PMID: 27075000; PMCID: PMC4874428.
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Photochemical transformations on plasmonic metal nanoparticles.

Nature materials

Linic S, Aslam U, Boerigter C, Morabito M.
PMID: 25990912
Nat Mater. 2015 Jun;14(6):567-76. doi: 10.1038/nmat4281.

The strong interaction of electromagnetic fields with plasmonic nanomaterials offers opportunities in various technologies that take advantage of photophysical processes amplified by this light-matter interaction. Recently, it has been shown that in addition to photophysical processes, optically excited plasmonic...

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Linic S, Aslam U, Boerigter C, et al. Photochemical transformations on plasmonic metal nanoparticles. Nat Mater. 2015;14(6):567-76doi: 10.1038/nmat4281.
Linic, S., Aslam, U., Boerigter, C., & Morabito, M. (2015). Photochemical transformations on plasmonic metal nanoparticles. Nature materials, 14(6), 567-76. https://doi.org/10.1038/nmat4281
Linic, Suljo, et al. "Photochemical transformations on plasmonic metal nanoparticles." Nature materials vol. 14,6 (2015): 567-76. doi: https://doi.org/10.1038/nmat4281
Linic S, Aslam U, Boerigter C, Morabito M. Photochemical transformations on plasmonic metal nanoparticles. Nat Mater. 2015 Jun;14(6):567-76. doi: 10.1038/nmat4281. PMID: 25990912.
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Pneumomediastinum and Bilateral Pneumothoraces Causing Respiratory Failure after Thyroid Surgery.

Case reports in anesthesiology

Koeppen M, Scott B, Morabito J, Fiegel M, Eckle T.
PMID: 28523194
Case Rep Anesthesiol. 2017;2017:8206970. doi: 10.1155/2017/8206970. Epub 2017 Apr 24.

We report the first case of severe respiratory failure after thyroid surgery requiring venovenous extracorporeal membrane oxygenation (vvECMO). The patient was a 41-year-old woman with metastatic thyroid cancer. She underwent thyroidectomy, including left lateral and bilateral central neck dissection....

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Koeppen M, Scott B, Morabito J, et al. Pneumomediastinum and Bilateral Pneumothoraces Causing Respiratory Failure after Thyroid Surgery. Case Rep Anesthesiol. 2017;2017:8206970doi: 10.1155/2017/8206970.
Koeppen, M., Scott, B., Morabito, J., Fiegel, M., & Eckle, T. (2017). Pneumomediastinum and Bilateral Pneumothoraces Causing Respiratory Failure after Thyroid Surgery. Case reports in anesthesiology, 20178206970. https://doi.org/10.1155/2017/8206970
Koeppen, Michael, et al. "Pneumomediastinum and Bilateral Pneumothoraces Causing Respiratory Failure after Thyroid Surgery." Case reports in anesthesiology vol. 2017 (2017): 8206970. doi: https://doi.org/10.1155/2017/8206970
Koeppen M, Scott B, Morabito J, Fiegel M, Eckle T. Pneumomediastinum and Bilateral Pneumothoraces Causing Respiratory Failure after Thyroid Surgery. Case Rep Anesthesiol. 2017;2017:8206970. doi: 10.1155/2017/8206970. Epub 2017 Apr 24. PMID: 28523194; PMCID: PMC5421092.
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Genetic diversity and haplotype distribution of Pachymeniopsis gargiuli sp. nov. and P. lanceolata (Halymeniales, Rhodophyta) in Korea, with notes on their non-native distributions.

Journal of phycology

Kim SY, Manghisi A, Morabito M, Yang EC, Yoon HS, Miller KA, Boo SM.
PMID: 26988642
J Phycol. 2014 Oct;50(5):885-96. doi: 10.1111/jpy.12218. Epub 2014 Aug 20.

The red alga Pachymeniopsis lanceolata, formerly known as Grateloupia lanceolata, is a component of the native algal flora of northeast Asia and has been introduced to European and North American waters. It has been confused with a cryptic species...

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Kim SY, Manghisi A, Morabito M, et al. Genetic diversity and haplotype distribution of Pachymeniopsis gargiuli sp. nov. and P. lanceolata (Halymeniales, Rhodophyta) in Korea, with notes on their non-native distributions. J Phycol. 2014;50(5):885-96doi: 10.1111/jpy.12218.
Kim, S. Y., Manghisi, A., Morabito, M., Yang, E. C., Yoon, H. S., Miller, K. A., & Boo, S. M. (2014). Genetic diversity and haplotype distribution of Pachymeniopsis gargiuli sp. nov. and P. lanceolata (Halymeniales, Rhodophyta) in Korea, with notes on their non-native distributions. Journal of phycology, 50(5), 885-96. https://doi.org/10.1111/jpy.12218
Kim, Su Yeon, et al. "Genetic diversity and haplotype distribution of Pachymeniopsis gargiuli sp. nov. and P. lanceolata (Halymeniales, Rhodophyta) in Korea, with notes on their non-native distributions." Journal of phycology vol. 50,5 (2014): 885-96. doi: https://doi.org/10.1111/jpy.12218
Kim SY, Manghisi A, Morabito M, Yang EC, Yoon HS, Miller KA, Boo SM. Genetic diversity and haplotype distribution of Pachymeniopsis gargiuli sp. nov. and P. lanceolata (Halymeniales, Rhodophyta) in Korea, with notes on their non-native distributions. J Phycol. 2014 Oct;50(5):885-96. doi: 10.1111/jpy.12218. Epub 2014 Aug 20. PMID: 26988642.
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Expiratory CT scan in patients with normal inspiratory CT scan: a finding of obliterative bronchiolitis and other causes of bronchiolar obstruction.

Multidisciplinary respiratory medicine

Gaeta M, Minutoli F, Girbino G, Murabito A, Benedetto C, Contiguglia R, Ruggeri P, Privitera S.
PMID: 23835554
Multidiscip Respir Med. 2013 Jul 09;8(1):44. doi: 10.1186/2049-6958-8-44.

Expiratory CT scan is usually obtained as supplement to normal inspiratory CT scan to recognize air-trapping, which is expression of small airways obstruction. In some patients the air-trapping may be the only sign of an early-stage small airways disease...

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Gaeta M, Minutoli F, Girbino G, et al. Expiratory CT scan in patients with normal inspiratory CT scan: a finding of obliterative bronchiolitis and other causes of bronchiolar obstruction. Multidiscip Respir Med. 2013;8(1):44doi: 10.1186/2049-6958-8-44.
Gaeta, M., Minutoli, F., Girbino, G., Murabito, A., Benedetto, C., Contiguglia, R., Ruggeri, P., & Privitera, S. (2013). Expiratory CT scan in patients with normal inspiratory CT scan: a finding of obliterative bronchiolitis and other causes of bronchiolar obstruction. Multidisciplinary respiratory medicine, 8(1), 44. https://doi.org/10.1186/2049-6958-8-44
Gaeta, Michele, et al. "Expiratory CT scan in patients with normal inspiratory CT scan: a finding of obliterative bronchiolitis and other causes of bronchiolar obstruction." Multidisciplinary respiratory medicine vol. 8,1 (2013): 44. doi: https://doi.org/10.1186/2049-6958-8-44
Gaeta M, Minutoli F, Girbino G, Murabito A, Benedetto C, Contiguglia R, Ruggeri P, Privitera S. Expiratory CT scan in patients with normal inspiratory CT scan: a finding of obliterative bronchiolitis and other causes of bronchiolar obstruction. Multidiscip Respir Med. 2013 Jul 09;8(1):44. doi: 10.1186/2049-6958-8-44. PMID: 23835554; PMCID: PMC3710098.
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Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits.

Psychosomatic medicine

Haljas K, Amare AT, Alizadeh BZ, Hsu YH, Mosley T, Newman A, Murabito J, Tiemeier H, Tanaka T, van Duijn C, Ding J, Llewellyn DJ, Bennett DA, Terracciano A, Launer L, Ladwig KH, Cornelis MC, Teumer A, Grabe H, Kardia SLR, Ware EB, Smith JA, Snieder H, Eriksson JG, Groop L, Räikkönen K, Lahti J.
PMID: 29280852
Psychosom Med. 2018 Apr;80(3):242-251. doi: 10.1097/PSY.0000000000000555.

OBJECTIVE: Shared genetic background may explain phenotypic associations between depression and Type 2 diabetes (T2D). We aimed to study, on a genome-wide level, if genetic correlation and pleiotropic loci exist between depressive symptoms and T2D or glycemic traits.METHODS: We...

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Haljas K, Amare AT, Alizadeh BZ, et al. Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits. Psychosom Med. 2018;80(3):242-251doi: 10.1097/PSY.0000000000000555.
Haljas, K., Amare, A. T., Alizadeh, B. Z., Hsu, Y. H., Mosley, T., Newman, A., Murabito, J., Tiemeier, H., Tanaka, T., van Duijn, C., Ding, J., Llewellyn, D. J., Bennett, D. A., Terracciano, A., Launer, L., Ladwig, K. H., Cornelis, M. C., Teumer, A., Grabe, H., Kardia, S. L. R., Ware, E. B., Smith, J. A., Snieder, H., Eriksson, J. G., Groop, L., Räikkönen, K., & Lahti, J. (2018). Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits. Psychosomatic medicine, 80(3), 242-251. https://doi.org/10.1097/PSY.0000000000000555
Haljas, Kadri, et al. "Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits." Psychosomatic medicine vol. 80,3 (2018): 242-251. doi: https://doi.org/10.1097/PSY.0000000000000555
Haljas K, Amare AT, Alizadeh BZ, Hsu YH, Mosley T, Newman A, Murabito J, Tiemeier H, Tanaka T, van Duijn C, Ding J, Llewellyn DJ, Bennett DA, Terracciano A, Launer L, Ladwig KH, Cornelis MC, Teumer A, Grabe H, Kardia SLR, Ware EB, Smith JA, Snieder H, Eriksson JG, Groop L, Räikkönen K, Lahti J. Bivariate Genome-Wide Association Study of Depressive Symptoms With Type 2 Diabetes and Quantitative Glycemic Traits. Psychosom Med. 2018 Apr;80(3):242-251. doi: 10.1097/PSY.0000000000000555. PMID: 29280852; PMCID: PMC6051528.
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Engraftment of chronic myelomonocytic leukemia cells in immunocompromised mice supports disease dependency on cytokines.

Blood advances

Zhang Y, He L, Selimoglu-Buet D, Jego C, Morabito M, Willekens C, Diop MK, Gonin P, Lapierre V, Droin N, Solary E, Louache F.
PMID: 29296739
Blood Adv. 2017 Jun 13;1(14):972-979. doi: 10.1182/bloodadvances.2017004903. eCollection 2017 Jun 13.

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder that typically associates with mutations in epigenetic, splicing, and signaling genes. Genetically modified mouse models only partially recapitulate the disease phenotype, whereas xenotransplantation of CMML cells in immunocompromised...

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Zhang Y, He L, Selimoglu-Buet D, et al. Engraftment of chronic myelomonocytic leukemia cells in immunocompromised mice supports disease dependency on cytokines. Blood Adv. 2017;1(14):972-979doi: 10.1182/bloodadvances.2017004903.
Zhang, Y., He, L., Selimoglu-Buet, D., Jego, C., Morabito, M., Willekens, C., Diop, M. K., Gonin, P., Lapierre, V., Droin, N., Solary, E., & Louache, F. (2017). Engraftment of chronic myelomonocytic leukemia cells in immunocompromised mice supports disease dependency on cytokines. Blood advances, 1(14), 972-979. https://doi.org/10.1182/bloodadvances.2017004903
Zhang, Yanyan, et al. "Engraftment of chronic myelomonocytic leukemia cells in immunocompromised mice supports disease dependency on cytokines." Blood advances vol. 1,14 (2017): 972-979. doi: https://doi.org/10.1182/bloodadvances.2017004903
Zhang Y, He L, Selimoglu-Buet D, Jego C, Morabito M, Willekens C, Diop MK, Gonin P, Lapierre V, Droin N, Solary E, Louache F. Engraftment of chronic myelomonocytic leukemia cells in immunocompromised mice supports disease dependency on cytokines. Blood Adv. 2017 Jun 13;1(14):972-979. doi: 10.1182/bloodadvances.2017004903. eCollection 2017 Jun 13. PMID: 29296739; PMCID: PMC5737594.
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NREM Sleep Instability in Pediatric Migraine Without Aura.

Frontiers in neurology

Roccella M, Marotta R, Operto FF, Smirni D, Precenzano F, Bitetti I, Messina G, Sessa F, Di Mizio G, Loreto C, Salerno M, Russo V, Murabito P, Gallai B, Esposito M, Iacono D, Carotenuto M.
PMID: 31551903
Front Neurol. 2019 Aug 27;10:932. doi: 10.3389/fneur.2019.00932. eCollection 2019.

Children with migraine headaches appear to have a range of sleep disturbances. The aim of the present study was to assess the NREM sleep instability in a population of school-aged individuals affected by migraine without aura (MoA). Thirty-three children...

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Roccella M, Marotta R, Operto FF, et al. NREM Sleep Instability in Pediatric Migraine Without Aura. Front Neurol. 2019;10:932doi: 10.3389/fneur.2019.00932.
Roccella, M., Marotta, R., Operto, F. F., Smirni, D., Precenzano, F., Bitetti, I., Messina, G., Sessa, F., Di Mizio, G., Loreto, C., Salerno, M., Russo, V., Murabito, P., Gallai, B., Esposito, M., Iacono, D., & Carotenuto, M. (2019). NREM Sleep Instability in Pediatric Migraine Without Aura. Frontiers in neurology, 10932. https://doi.org/10.3389/fneur.2019.00932
Roccella, Michele, et al. "NREM Sleep Instability in Pediatric Migraine Without Aura." Frontiers in neurology vol. 10 (2019): 932. doi: https://doi.org/10.3389/fneur.2019.00932
Roccella M, Marotta R, Operto FF, Smirni D, Precenzano F, Bitetti I, Messina G, Sessa F, Di Mizio G, Loreto C, Salerno M, Russo V, Murabito P, Gallai B, Esposito M, Iacono D, Carotenuto M. NREM Sleep Instability in Pediatric Migraine Without Aura. Front Neurol. 2019 Aug 27;10:932. doi: 10.3389/fneur.2019.00932. eCollection 2019. PMID: 31551903; PMCID: PMC6736572.
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Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency.

Journal of clinical medicine

Minardi C, Minacapelli R, Valastro P, Vasile F, Pitino S, Pavone P, Astuto M, Murabito P.
PMID: 30609770
J Clin Med. 2019 Jan 02;8(1). doi: 10.3390/jcm8010039.

Seizures are defined as a transient occurrence of signs and symptoms due to the abnormal, excessive, or synchronous neuronal activity in the brain characterized by abrupt and involuntary skeletal muscle activity. An early diagnosis, treatment, and specific medical support...

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Minardi C, Minacapelli R, Valastro P, et al. Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency. J Clin Med. 2019;8(1)doi: 10.3390/jcm8010039.
Minardi, C., Minacapelli, R., Valastro, P., Vasile, F., Pitino, S., Pavone, P., Astuto, M., & Murabito, P. (2019). Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency. Journal of clinical medicine, 8(1), . https://doi.org/10.3390/jcm8010039
Minardi, Carmelo, et al. "Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency." Journal of clinical medicine vol. 8,1 (2019). doi: https://doi.org/10.3390/jcm8010039
Minardi C, Minacapelli R, Valastro P, Vasile F, Pitino S, Pavone P, Astuto M, Murabito P. Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency. J Clin Med. 2019 Jan 02;8(1). doi: 10.3390/jcm8010039. PMID: 30609770; PMCID: PMC6352402.
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Hemispheric Asymmetries in Radial Line Bisection: Role of Retinotopic and Spatiotopic Factors.

Frontiers in psychology

Chieffi S, Messina G, Villano I, Messina A, Ilardi CR, Monda M, Salerno M, Sessa F, Mollica MP, Cavaliere G, Trinchese G, Cimmino F, Murabito P, Catapano A, Monda V.
PMID: 30483201
Front Psychol. 2018 Nov 12;9:2200. doi: 10.3389/fpsyg.2018.02200. eCollection 2018.

Previous studies showed that healthy individuals bisect radial lines oriented along the midsagittal plane farther than the true center (distal bisection bias). It was proposed that the distal bisection bias depended on the presence of an attention bias directed...

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Chieffi S, Messina G, Villano I, et al. Hemispheric Asymmetries in Radial Line Bisection: Role of Retinotopic and Spatiotopic Factors. Front Psychol. 2018;9:2200doi: 10.3389/fpsyg.2018.02200.
Chieffi, S., Messina, G., Villano, I., Messina, A., Ilardi, C. R., Monda, M., Salerno, M., Sessa, F., Mollica, M. P., Cavaliere, G., Trinchese, G., Cimmino, F., Murabito, P., Catapano, A., & Monda, V. (2018). Hemispheric Asymmetries in Radial Line Bisection: Role of Retinotopic and Spatiotopic Factors. Frontiers in psychology, 92200. https://doi.org/10.3389/fpsyg.2018.02200
Chieffi, Sergio, et al. "Hemispheric Asymmetries in Radial Line Bisection: Role of Retinotopic and Spatiotopic Factors." Frontiers in psychology vol. 9 (2018): 2200. doi: https://doi.org/10.3389/fpsyg.2018.02200
Chieffi S, Messina G, Villano I, Messina A, Ilardi CR, Monda M, Salerno M, Sessa F, Mollica MP, Cavaliere G, Trinchese G, Cimmino F, Murabito P, Catapano A, Monda V. Hemispheric Asymmetries in Radial Line Bisection: Role of Retinotopic and Spatiotopic Factors. Front Psychol. 2018 Nov 12;9:2200. doi: 10.3389/fpsyg.2018.02200. eCollection 2018. PMID: 30483201; PMCID: PMC6240617.
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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human genetics

Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE.
PMID: 34859289
Hum Genet. 2021 Dec 02; doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02.

Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial function, we performed a genome-wide association study (GWAS)...

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Longchamps RJ, Yang SY, Castellani CA, et al. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2021;doi: 10.1007/s00439-021-02394-w.
Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., Feitosa, M. F., Wojczynski, M. K., Kraja, A. T., Province, M. A., Amin, N., Rivadeneira, F., Tiemeier, H., Uitterlinden, A. G., Broer, L., Van Meurs, J. B. J., Van Duijn, C. M., Raffield, L. M., Lange, L., Rich, S. S., Lemaitre, R. N., Goodarzi, M. O., Sitlani, C. M., Mak, A. C. Y., Bennett, D. A., Rodriguez, S., Murabito, J. M., Lunetta, K. L., Sotoodehnia, N., Atzmon, G., Ye, K., Barzilai, N., Brody, J. A., Psaty, B. M., Taylor, K. D., Rotter, J. I., Boerwinkle, E., Pankratz, N., & Arking, D. E. (2021). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human genetics, . https://doi.org/10.1007/s00439-021-02394-w
Longchamps, R J, et al. "Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation." Human genetics vol. (2021). doi: https://doi.org/10.1007/s00439-021-02394-w
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2021 Dec 02; doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02. PMID: 34859289.
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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human genetics

Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE.
PMID: 34859289
Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02.

Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial function, we performed a genome-wide association study (GWAS)...

Cite
Longchamps RJ, Yang SY, Castellani CA, et al. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2021;141(1):127-146doi: 10.1007/s00439-021-02394-w.
Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., Feitosa, M. F., Wojczynski, M. K., Kraja, A. T., Province, M. A., Amin, N., Rivadeneira, F., Tiemeier, H., Uitterlinden, A. G., Broer, L., Van Meurs, J. B. J., Van Duijn, C. M., Raffield, L. M., Lange, L., Rich, S. S., Lemaitre, R. N., Goodarzi, M. O., Sitlani, C. M., Mak, A. C. Y., Bennett, D. A., Rodriguez, S., Murabito, J. M., Lunetta, K. L., Sotoodehnia, N., Atzmon, G., Ye, K., Barzilai, N., Brody, J. A., Psaty, B. M., Taylor, K. D., Rotter, J. I., Boerwinkle, E., Pankratz, N., & Arking, D. E. (2022). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human genetics, 141(1), 127-146. https://doi.org/10.1007/s00439-021-02394-w
Longchamps, R J, et al. "Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation." Human genetics vol. 141,1 (2022): 127-146. doi: https://doi.org/10.1007/s00439-021-02394-w
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02. PMID: 34859289.
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