المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6480d7ncTest

المؤلفون: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carrol, Christopher J.

المساهمون: HUS Lasten ja nuorten sairaudet, Clinicum, Lastenneurologian yksikkö

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, Ogdh, Oxoglutarate dehydrogenase, A-ketoglutarate dehydrogenase, Deficiency, Genetiikka, kehitysbiologia, fysiologia

وصف الملف: application/pdf

العلاقة: Whittle , E F , Chilian , M , Karimiani , E G , Progri , H , Buhas , D , Kose , M , Ganetzky , R D , Toosi , M B , Torbati , P N , Badv , R S , Shelihan , I , Yang , H , Elloumi , H Z , Lee , S , Jamshidi , Y , Pittman , A M , Houlden , H , Ignatius , E , Rahman , S , Maroofian , R , Yoon , W H & Carrol , C J 2023 , ' Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities ' , Genetics In medicine , Vuosikerta. 25 , Nro 2 , 100332 . https://doi.org/10.1016/j.gim.2022.11.001Test; http://hdl.handle.net/10138/356336Test; ee26e507-83ca-4305-9c21-d7f7cff84990; 000932994700001

الإتاحة: http://hdl.handle.net/10138/356336Test

المؤلفون: Lee, Sukyeong, Lee, Sang Bum, Sung, Nuri, Xu, Wendy W., Chang, Changsoo, Kim, Hyun-Eui, Catic, Andre, Tsai, Francis T. F.

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences, U.S. Department of Health & Human Services | National Institutes of Health, U.S. Department of Energy, University of Texas Health Science Center at Houston, University of Texas System, Cancer Prevention and Research Institute of Texas, Welch Foundation

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-023-37657-9Test
https://www.nature.com/articles/s41467-023-37657-9.pdfTest
https://www.nature.com/articles/s41467-023-37657-9Test

المؤلفون: Zhang, Hong, Murphy, Parker, Yu, Jason, Lee, Sukyeong, Tsai, Francis T F, van Hoof, Ambro, Ling, Jiqiang

المساهمون: National Institute of General Medical Sciences, Welch Foundation

المصدر: Nucleic Acids Research ; volume 51, issue 19, page 10606-10618 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gkad778Test
https://academic.oup.com/nar/article-pdf/51/19/10606/52582060/gkad778.pdfTest

المؤلفون: Eisa, Nada H., Crowley, Vincent M., Elahi, Asif, Kommalapati, Vamsi Krishna, Serwetnyk, Michael A., Llbiyi, Taoufik, Lu, Sumin, Kainth, Kashish, Jilani, Yasmeen, Marasco, Daniela, El Andaloussi, Abdeljabar, Lee, Sukyeong, Tsai, Francis T.F., Rodriguez, Paulo C., Munn, David, Celis, Esteban, Korkaya, Hasan, Debbab, Abdessamad, Blagg, Brian, Chadli, Ahmed

المساهمون: Augusta University, Egyptian Cultural and Educational Bureau, National Institutes of Health, University of New South Wales, NCI

المصدر: iScience ; volume 26, issue 12, page 108308 ; ISSN 2589-0042

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1016/j.isci.2023.108308Test
https://api.elsevier.com/content/article/PII:S2589004223023854?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2589004223023854?httpAccept=text/plainTest

المؤلفون: Lee, Min Jae, Bhattarai, Deepak, Jang, Hyeryung, Baek, Ahreum, Yeo, In Jun, Lee, Seongsoo, Miller, Zachary, Lee, Sukyeong, Hong, Jin Tae, Kim, Dong-Eun, Lee, Wooin, Kim, Kyung Bo

المساهمون: National Research Foundation of Korea, National Institutes of Health, Creative-Pioneering Researchers Program through Seoul National University

المصدر: Journal of Medicinal Chemistry ; volume 67, issue 6, page 5109-5110 ; ISSN 0022-2623 1520-4804

مصطلحات موضوعية: Drug Discovery, Molecular Medicine

الإتاحة: https://doi.org/10.1021/acs.jmedchem.4c00382Test

المؤلفون: Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O'Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema

المصدر: Human Genetics; Mar2024, Vol. 143 Issue 3, p279-291, 13p

مصطلحات موضوعية: SENSORINEURAL hearing loss, GENETIC variation, ECTODERMAL dysplasia, CRANIOSYNOSTOSES, MITOGEN-activated protein kinases, LEUCINE zippers

المؤلفون: Whittle, Ella F, Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D, Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M, Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, OGDH, Oxoglutarate dehydrogenase, α-ketoglutarate dehydrogenase deficiency

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162085Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162085Test/

المؤلفون: Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1651742Test; https://mediatum.ub.tum.de/doc/1651742/document.pdfTest

الإتاحة: https://doi.org/10.1186/s13073-021-00873-3Test
https://mediatum.ub.tum.de/1651742Test
https://mediatum.ub.tum.de/doc/1651742/document.pdfTest

المؤلفون: Lee, Min Jae, Bhattarai, Deepak, Jang, Hyeryung, Baek, Ahreum, Yeo, In Jun, Lee, Seongsoo, Miller, Zachary, Lee, Sukyeong, Hong, Jin Tae, Kim, Dong-Eun, Lee, Wooin, Kim, Kyung Bo

المساهمون: Lee, Wooin

مصطلحات موضوعية: MACULAR DEGENERATION, MODEL, IMPAIRMENT, ACTIVATION, DEPOSITION, RESISTANCE, DISCOVERY, RETINA, CELLS

العلاقة: Journal of Medicinal Chemistry, Vol.64 No.15, pp.10934-10950; https://hdl.handle.net/10371/184881Test; 000685644300024; 2-s2.0-85112701778; 141302

الإتاحة: https://doi.org/10.1021/acs.jmedchem.1c00291Test
https://hdl.handle.net/10371/184881Test