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22 results on '"Koh, Y.J."'

2. GI101, a novel triple-targeting bispecific CD80-IgG4-IL2variant fusion protein, elicits synergistic anti-tumour effects in preclinical models

Author

Park, J.C., primary, Pyo, K.H., additional, Song, Y.J., additional, Lee, W.J., additional, Kim, J., additional, Ji, H.N., additional, Park, S.S., additional, Koh, Y.J., additional, Lee, K., additional, Cho, B., additional, Chun, B.-H., additional, Oh, Y.M., additional, Yang, B.-G., additional, Nam, S.Y., additional, and Jang, M.H., additional

Published
2019
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5. Global prevalence of autism and other pervasive developmental disorders

Author

Elsabbagh, Mayada, Divan, G., Koh, Y.J., Kim, Y.S., Kauchali, S., Marcín, C., Montiel-Nava, C., Patel, V., Paula, C.S., Wang, C., Yasamy, M.T., and Fombonne, E.

Subjects
psyc
Abstract

We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. A secondary aim was to consider the possible impact of geographic, cultural/ethnic, and socioeconomic factors on prevalence estimates and on clinical presentation of PDD. Based on the evidence reviewed, the median of prevalence estimates of autism spectrum disorders was 62/10 000. While existing estimates are variable, the evidence reviewed does not support differences in PDD prevalence by geographic region nor of a strong impact of ethnic/cultural or socioeconomic factors. However, power to detect such effects is seriously limited in existing data sets, particularly in low-income countries. While it is clear that prevalence estimates have increased over time and these vary in different neighboring and distant regions, these findings most likely represent broadening of the diagnostic concets, diagnostic switching from other developmental disabilities to PDD, service availability, and awareness of autistic spectrum disorders in both the lay and professional public. The lack of evidence from the majority of the world's population suggests a critical need for further research and capacity building in low- and middle-income countries.

Published
2012

10. 1065 INTRACAVERNOUS DELIVERY OF FRESHLY ISOLATED ADIPOSE TISSUE-DERIVED STROMAL VASCULAR FRACTION RESCUES ERECTILE FUNCTION BY ENHANCING ENDOTHELIAL REGENERATION IN THE STREPTOZOTOCIN-INDUCED DIABETIC MOUSE

Author

Ryu, J.K., primary, Tumurbaatar, M., additional, Jin, H.R., additional, Kim, W.J., additional, Kwon, M.H., additional, Choi, M.J., additional, Yin, G.N., additional, Song, K.M., additional, Kang, Y.J., additional, Jang, J.H., additional, Koh, Y.J., additional, Koh, G.Y., additional, and Suh, J.K., additional

Published
2011
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17. An overview of BiCMOS technology and applications

Author

Alvarez, A.R., primary, Pai, S.Y., additional, Ratnakumar, K.N., additional, Gibbs, G., additional, Ramirez, R., additional, Koh, Y.J., additional, Robins, S.T., additional, Segal, J., additional, LaBouff, M.J., additional, Kanegawa, K., additional, Solfest, R.W., additional, Kupec, J.D., additional, and Lutz, R.C., additional

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20. Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree

Author

Andrew McQuillin, Dongmei Yu, Jeremiah M. Scharf, Poorva Mudgal, Matthew Halvorsen, David Mataix-Cols, James J. Crowley, Mary M. Robertson, Ashley E. Nordsletten, Manuel Mattheisen, Jin P. Szatkiewicz, Carol A. Mathews, Psychiatric Genomics Consortium TS/OCD Working Group, Aschauer, H., Atzmon, G., Barr, C., Barta, C., Barzilai, N., Batterson, J., Berlin, C., Bodmer, B., Bohnenpoll, J., Brown, L., Bruun, R., Buckner, R., Budman, C., Cath, D., Cheon, K.A., Chouinard, S., Coffey, B., Coppola, G., Cox, N., Crowley, J., Darrow, S., Davis, L., Depienne, C., Dietrich, A., Dion, Y., Elzerman, L., Fernandez, T., Freimer, N., Fremer, C., Fründt, O., Garcia-Delgar, B., Gilbert, D., Grados, M., Greenberg, E., Grice, D., Hagstrøm, J., Halvorsen, M., Hartmann, A., Hebebrand, J., Hedderly, T., Heiman, G., Heyman, I., Hinney, A., Hirschtritt, M., Hoekstra, P., Hong, H., Huang, A., Huyser, C., Ibanez-Gomez, L., Illmann, C., Jankovic, J., Kim, Y., Kim, Y.S., King, R., Knowles, J., Koh, Y.J., Konstantinidis, A., Kook, S., Kuperman, S., Kurlan, R., Leckman, J., Lee, P., Leventhal, B., Ludolph, A., Luðvigsson, P., Lyon, G., Madruga-Garrido, M., Malaty, I., Maras, A., Mataix-Cols, D., Mathews, C., Mattheisen, M., McMahon, W., McQuillin, A., Mir, P., Moessner, R., Morer, A., Mudgal, P., Mueller-Vahl, K., Murphy, T., Münchau, A., Nagy, P., Nawaz, M., Neale, B., Nordsletten, A., Nöthen, M., Okun, M., Ophoff, R., Osiecki, L., Paschou, P., Pato, C., Pato, M., Pauls, D., Plessen, K., Posthuma, D., Richer, P., Rizzo, R., Robertson, M., Roessner, V., Roffman, J., Rouleau, G., Sandor, P., Sæmundsen, E., Scharf, J., Schlögelhofer, M., Shin, E.Y., Singer, H., Smit, J., Smoller, J., Song, D.H., Song, J., Stamenkovic, M., State, M., Stefansson, H., Stefansson, K., Stuhrmann, M., Sul, J., Szatkiewicz, J., Tarnok, Z., Thorarensen, Ó., Tischfield, J., Tsetsos, F., Tübing, J., Visscher, F., Wagner, M., Wanderer, S., Wang, S., Willsey, J., Wolanczyk, T., Woods, D., Woods, M., Worbe, Y., Yu, D., Zelaya, I., Zinner, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D), Plastic, Reconstructive and Hand Surgery, and Complex Trait Genetics

Subjects
Genetics, Tics, Single-nucleotide polymorphism, Biology, medicine.disease, Tourette syndrome, Genome, Identity by descent, Polymorphism, Single Nucleotide, Pedigree, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Risk Factors, Tic Disorders, medicine, SNP, Humans, Copy-number variation, Polymorphism, Single Nucleotide/genetics, Tourette Syndrome/genetics, Indel, Molecular Biology, Tourette Syndrome
Abstract

Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder with complex patterns of genetic inheritance. Recent genetic findings in TS have highlighted both numerous common variants with small effects and a few rare variants with moderate or large effects. Here we searched for genetic causes of TS in a large, densely-affected British pedigree using a systematic genomic approach. This pedigree spans six generations and includes 122 members, 85 of whom were individually interviewed, and 53 of whom were diagnosed as "cases" (consisting of 28 with definite or probable TS, 20 with chronic multiple tics [CMT], and five with obsessive-compulsive behaviors [OCB]). A total of 66 DNA samples were available (25 TS, 15 CMT, 4 OCB cases, and 22 unaffecteds) and all were genotyped using a dense single nucleotide polymorphism (SNP) array to identify shared segments, copy number variants (CNVs), and to calculate genetic risk scores. Eight cases were also whole genome sequenced to test whether any rare variants were shared identical by descent. While we did not identify any notable CNVs, single nucleotide variants, indels or repeat expansions of near-Mendelian effect, the most distinctive feature of this family proved to be an unusually high load of common risk alleles for TS. We found that cases within this family carried a higher load of TS common variant risk similar to that previously found in unrelated TS cases. Thus far, the strongest evidence from genetic data for contribution to TS risk in this family comes from multiple common risk variants rather than one or a few variants of strong effect.

Published
2021

21. Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families

Author

Gary A. Heiman, Samuel Kuperman, Andrea Dietrich, Li Deng, Julie Hagstrøm, Yeting Zhang, Jinchuan Xing, Xiaolong Cao, Lisheng Zhou, Pieter J. Hoekstra, Cara Nasello, Astrid Morer, Jay A. Tischfield, Mohamed Abdulkadir, Blanca Garcia-Delgar, Joshua K. Thackray, Kerstin J. Plessen, Justin Koesterich, Thomas V. Fernandez, Robert A. King, Clinical Cognitive Neuropsychiatry Research Program (CCNP), National Institute of Mental Health (US), Tourette Syndrome Association of New Jersey, National Institute of Environmental Health Sciences (US), Instituto de Salud Carlos III, Junta de Andalucía, Sociedad Andaluza de Neurología, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Jacques and Gloria Gossweiler Foundation, German Research Foundation, Tourette Association of America, National Institute for Health and Care Research (US), Tourette International Collaborative Genetics Study (TIC Genetics), Brown, L.W., Cao, X., Coffey, B.J., Gilbert, D.L., Hedderly, T., Heyman, I., Huyser, C., Kim, E., Kim, Y.S., Koh, Y.J., Leventhal, B.L., Madruga-Garrido, M., Maras, A., Mir, P., Münchau, A., Roessner, V., Song, D.H., State, M.W., Willsey, A.J., Zinner, S.H., Child Psychiatry, Paediatric Psychosocial Care, and Amsterdam Neuroscience - Cellular & Molecular Mechanisms

Subjects
0301 basic medicine, Candidate gene, Population, Cadherin Related Proteins, Nerve Tissue Proteins, Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Neurodevelopmental disorder, Exome Sequencing, medicine, Humans, Family, Genetic Predisposition to Disease, education, Molecular Biology, Gene, Genotyping, Exome sequencing, Zinc finger, Genetics, education.field_of_study, Genetic heterogeneity, Serine Endopeptidases, medicine.disease, Pedigree, Genetic Predisposition to Disease/genetics, Nerve Tissue Proteins/genetics, Tourette Syndrome/genetics, Whole Exome Sequencing, Psychiatry and Mental health, 030104 developmental biology, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

Tourette’s Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD. Using whole-exome sequencing and genotyping array data, we identified both small and large genetic variants within the individuals. We then combined multiple types of evidence to prioritize candidate genes for TD, including variant segregation pattern, variant function prediction, candidate gene expression, protein–protein interaction network, candidate genes from previous studies, etc. From the 13 families, 71 strong candidate genes were identified, including both known genes for NDDs and novel genes, such as HtrA Serine Peptidase 3 (HTRA3), Cadherin-Related Family Member 1 (CDHR1), and Zinc Finger DHHC-Type Palmitoyltransferase 17 (ZDHHC17). The candidate genes are enriched in several Gene Ontology categories, such as dynein complex and synaptic membrane. Candidate genes and pathways identified in this study provide biological insight into TD etiology and potential targets for future studies., This study was supported by a grant from the National Institute of Mental Health (R01MH092293 to GAH and JAT) and by a grant from the New Jersey Center for Tourette Syndrome (to GAH and JAT). This study was also supported by grants from the National Institute of Mental Health (K08MH099424 to TVF) and the National Institute for Environmental Health Science (R01 ES021462 for YSK and BLL). PM has received grants from the Instituto de Salud Carlos III (PI10/01674, PI13/01461), the Consejería de Economía, Innovación, Ciencia y Empresa de la Junta de Andalucía (CVI-02526, CTS-7685), the Consejería de Salud y Bienestar Social de la Junta de Andalucía (PI-0741/2010, PI-0437-2012, PI-0471-2013), the Sociedad Andaluza de Neurología, the Fundación Alicia Koplowitz, the Fundación Mutua Madrileña, and the Jaques and Gloria Gossweiler Foundation. AM has received grants from the Fundacion Alicia Koplowitz and belongs to the research group of the Comissionat per Universitats i Recerca del Departmanent d’Innovacio (DIUE) 2009SGR1119. AM has received grants from the Deutsche Forschungsgemeinschaft (DFG: MU 1692/3-1, MU 1692/4-1, and FOR 2698). AJW received a Young Investigator Award from Tourette Association of America. IH declares that all research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre.

Published
2020

22. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State, Mohamed Abdulkadir, Benjamin Bodmer, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Carolin Fremer, Blanca Garcia-Delgar, Donald L. Gilbert, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Montana T Morris, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Hannah Poisner, Veit Roessner, Stephan J. Sanders, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Joshua K. Thackray, Jennifer Tübing, Frank Visscher, Sina Wanderer, A Jeremy Willsey, Martin Woods, Yeting Zhang, Samuel H. Zinner, Christos Androutsos, Csaba Barta, Luca Farkas, Jakub Fichna, Marianthi Georgitsi, Piotr Janik, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Renata Rizzo, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Vaia Tsironi, Tomasz Wolanczyk, Cezary Zekanowski, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MacMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Abdulkadir, M., Arbelaez, J., Bodmer, B., Bromberg, Y., Brown, L.W., Cheon, K.A., Coffey, B.J., Deng, L., Dietrich, A., Dong, S., Duhn, C., Elzerman, L., Fernandez, T.V., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Grice, D.E., Hagstrøm, J., Hedderly, T., Heiman, G.A., Heyman, I., Hoekstra, P.J., Hong, H.J., Huyser, C., Kim, E.J., Kim, Y.K., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Leventhal, B.L., Ludolph, A.G., Madruga-Garrido, M., Mandell, J.D., Maras, A., Mir, P., Morer, A., Morris, M.T., Müller-Vahl, K., Münchau, A., Murphy, T.L., Nasello, C., Plessen, K.J., Poisner, H., Roessner, V., Sanders, S.J., Shin, E.Y., Song, D.H., Song, J., State, M.W., Sun, N., Thackray, J.K., Tischfield, J.A., Tübing, J., Visscher, F., Wanderer, S., Wang, S., Willsey, A.J., Woods, M., Xing, J., Zhang, Y., Zhao, X., Zinner, S.H., Androutsos, C., Barta, C., Farkas, L., Fichna, J., Georgitsi, M., Janik, P., Karagiannidis, I., Koumoula, A., Nagy, P., Paschou, P., Puchala, J., Rizzo, R., Szejko, N., Szymanska, U., Tarnok, Z., Tsironi, V., Wolanczyk, T., Zekanowski, C., Barr, C.L., Batterson, J.R., Berlin, C., Bruun, R.D., Budman, C.L., Cath, D.C., Chouinard, S., Coppola, G., Cox, N.J., Darrow, S., Davis, L.K., Dion, Y., Freimer, N.B., Grados, M.A., Hirschtritt, M.E., Huang, A.Y., Illmann, C., Kurlan, R., Leckman, J.F., Lyon, G.J., Malaty, I.A., Mathews, C.A., MacMahon, W.M., Neale, B.M., Okun, M.S., Osiecki, L., Pauls, D.L., Posthuma, D., Ramensky, V., Robertson, M.M., Rouleau, G.A., Sandor, P., Scharf, J.M., Singer, H.S., Smit, J., Sul, J.H., and Yu, D.

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Receptors, Cell Surface, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RARE, SCHIZOPHRENIA, medicine, Humans, Copy-number variation, Child, NEURODEVELOPMENTAL DISORDERS, Gene, lcsh:QH301-705.5, Exome sequencing, 030304 developmental biology, Medicinsk genetik, Sequence (medicine), Genetics, 0303 health sciences, SEVERE INTELLECTUAL DISABILITY, Cadherin, MUTATIONS, AUTISM SPECTRUM DISORDER, Cell Polarity, OBSESSIVE-COMPULSIVE DISORDER, Cadherins, medicine.disease, Pedigree, PREVALENCE, CONGENITAL HEART-DISEASE, GENOME, 030104 developmental biology, lcsh:Biology (General), Schizophrenia, Medical genetics, Female, Cadherins/genetics, Receptors, Cell Surface/genetics, Tourette Syndrome/genetics, Tourette Syndrome/pathology, TIC Genetics, Tourette disorder, cell polarity, copy number variants, de novo variants, gene discovery, microarray genotyping, multiplex, simplex, whole exome sequencing, Medical Genetics, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk., In Brief Wang et al. expand their earlier exome-sequencing work in TD, adding 291 trios and conducting combined analyses suggesting de novo variants carry more risk in individuals with unaffected parents, establishing de novo structural variants as risk factors, identifying CELSR3 as a risk gene, and implicating cell polarity in pathogenesis., Graphical Abstract

Published
2018

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