المؤلفون: Yap Z. Y., Efthymiou S., Seiffert S., Vargas Parra K., Lee S., Nasca A., Maroofian R., Schrauwen I., Pendziwiat M., Jung S., Bhoj E., Striano P., Mankad K., Vona B., Cuddapah S., Wagner A., Alvi J. R., Davoudi-Dehaghani E., Fallah M. -S., Gannavarapu S., Lamperti C., Legati A., Murtaza B. N., Nadeem M. S., Rehman M. U., Saeidi K., Salpietro V., von Spiczak S., Sandoval A., Zeinali S., Zeviani M., Reich A., Jang C., Helbig I., Barakat T. S., Ghezzi D., Leal S. M., Weber Y., Houlden H., Yoon W. H.

المساهمون: Z.Y. Yap, S. Efthymiou, S. Seiffert, K. Vargas Parra, S. Lee, A. Nasca, R. Maroofian, I. Schrauwen, M. Pendziwiat, S. Jung, E. Bhoj, P. Striano, K. Mankad, B. Vona, S. Cuddapah, A. Wagner, J.R. Alvi, E. Davoudi-Dehaghani, M.-. Fallah, S. Gannavarapu, C. Lamperti, A. Legati, B.N. Murtaza, M.S. Nadeem, M.U. Rehman, K. Saeidi, V. Salpietro, S. von Spiczak, A. Sandoval, S. Zeinali, M. Zeviani, A. Reich, C. Jang, I. Helbig, T.S. Barakat, D. Ghezzi, S.M. Leal, Y. Weber, H. Houlden, W.H. Yoon

مصطلحات موضوعية: bi-allelic, CRISPR-Cas9 gene editing, DEE, developmental and epileptic encephalopathy, Drosophila, exome sequencing, mitochondria, neurodevelopmental disease, OGDHL, α-ketoglutarate, Allele, Animal, Ataxia, Cells, Cultured, Child, Cohort Studie, DNA Mutational Analysi, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblast, Hearing Lo, Human, Ketoglutarate Dehydrogenase Complex, Male, Neurodevelopmental Disorder, RNA Splicing, Vision Disorder

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34800363; info:eu-repo/semantics/altIdentifier/wos/WOS:000727739200014; volume:108; issue:12; firstpage:2368; lastpage:2384; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/902716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119926209

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.11.003Test
http://hdl.handle.net/2434/902716Test

المؤلفون: Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.

المصدر: Polla , D L , Bhoj , E J , Verheij , J B G M , Wassink-Ruiter , J S K , Reis , A , Deshpande , C , Gregor , A , Hill-Karfe , K , Vulto-van Silfhout , A T , Pfundt , R , Bongers , E M H F , Hakonarson , H , Berland , S , Gradek , G , Banka , S , Chandler , K , Gompertz , L , Huffels , S C , Stumpel , C T R M , Wennekes , R , Stegmann , A ....

مصطلحات موضوعية: FG SYNDROME, MENTAL-RETARDATION, MEDIATOR COMPLEX, OHDO SYNDROME, MUTATION, BLEPHAROPHIMOSIS, GENE, TRANSCRIPTION, DELINEATION, PHENOTYPE

الإتاحة: https://doi.org/10.1038/s41436-020-01040-6Test
https://cris.maastrichtuniversity.nl/en/publications/a2d99058-119a-41c1-9bb4-9aaf9783c686Test

المؤلفون: Yap, ZY, Efthymiou, S, Seiffert, S, Parra, KV, Lee, S, Nasca, A, Maroofian, R, Schrauwen, I, Pendziwiat, M, Jung, S, Bhoj, E, Striano, P, Mankad, K, Vona, B, Cuddapah, S, Wagner, A, Alvi, JR, Davoudi-Dehaghani, E, Fallah, M-S, Gannavarapu, S, Lamperti, C, Legati, A, Murtaza, BN, Nadeem, MS, Rehman, MU, Saeidi, K, Salpietro, V, Von Spiczak, S, Sandoval, A, Zeinali, S, Zeviani, M, Reich, A, Jang, C, Helbig, I, Barakat, TS, Ghezzi, D, Leal, SM, Weber, Y, Houlden, H, Yoon, WH

المصدر: American Journal of Human Genetics , 108 (12) pp. 2368-2384. (2021)

مصطلحات موضوعية: OGDHLmitochondria, α-ketoglutarate, bi-allelic, developmental and epileptic encephalopathy, DEE, exome sequencing, Drosophila, CRISPR-Cas9 gene editing, neurodevelopmental disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141141/7/Efthymiou_AJHG-D-21-00326_R3%20%281028%202021%29_extracted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141141Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141141/7/Efthymiou_AJHG-D-21-00326_R3%20%281028%202021%29_extracted.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141141Test/

المؤلفون: Polla, DL, Bhoj, EJ, Verheij, JBGM, Klein Wassink-Ruiter, JS, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Vulto-van Silfhout, AT, Pfundt, R, Bongers, EMHF, Hakonarson, H, Berland, S, Gradek, G, Banka, S, Chandler, K, Gompertz, L, Huffels, SC, Stumpel, CTRM, Wennekes, R, Stegmann, APA, Reardon, W, Leenders, EKSM, de Vries, BBA, Li D, Zackai, E, Ragge, Nicole, Lynch, SA, Cuddapah, S, van Bokhoven, H, Zweier, C, de Brouwer, APM

المصدر: De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

وصف الملف: application/pdf

العلاقة: https://radar.brookes.ac.uk/radar/items/c6fbd673-23ac-4061-9742-dbdfec4be4da/1Test/; https://radar.brookes.ac.uk/radar/file/c6fbd673-23ac-4061-9742-dbdfec4be4da/1/DeTest novo variants in MED12 - 2020 - deBrouwer et al.pdf

الإتاحة: https://radar.brookes.ac.uk/radar/items/c6fbd673-23ac-4061-9742-dbdfec4be4da/1Test/
https://radar.brookes.ac.uk/radar/file/c6fbd673-23ac-4061-9742-dbdfec4be4da/1/DeTest novo variants in MED12 - 2020 - deBrouwer et al.pdf

المؤلفون: Cuddapah, S, Roh, TY, Cui, KR, Jose, CC, Fuller, MT, Zhao, KJ, Chen, X

المساهمون: 융합생명공학부, 10138348, Roh, TY

مصطلحات موضوعية: HISTONE METHYLTRANSFERASE ACTIVITY, GROUP PROTEINS, DEVELOPMENTAL REGULATORS, SILENCING MECHANISMS, CHROMATIN DOMAINS, CELLULAR MEMORY, TARGET GENES, DNA-BINDING, COMPLEX, METHYLATION

العلاقة: PLOS ONE; E36365; SCI급, SCOPUS 등재논문; SCI; Multidisciplinary Sciences; Science & Technology - Other Topics; 2015-OAK-0000025923; https://oasis.postech.ac.kr/handle/2014.oak/12670Test; 13811; PLOS ONE, v.7, no.5, pp.E36365; 000305343400023; 2-s2.0-84860528446

الإتاحة: https://doi.org/10.1371/JOURNAL.PONE.0036365Test
https://oasis.postech.ac.kr/handle/2014.oak/12670Test

المؤلفون: Cuddapah, S, Schones, DE, Cui, KR, Roh, TY, Barski, A, Wei, G, Rochman, M, Bustin, M, Zhao, KJ

المساهمون: 융합생명공학부, 10138348, Roh, TY

مصطلحات موضوعية: CHROMOSOMAL-PROTEIN HMG-17, MOBILITY GROUP PROTEIN-14, TRANSCRIPTION FACTOR YY1, HISTONE H1, HYPERSENSITIVE SITES, LINKER HISTONE, BINDING, NUCLEOSOMES, DOMAIN, GENES

العلاقة: MOLECULAR AND CELLULAR BIOLOGY; 31; 700; 709; SCI급, SCOPUS 등재논문; SCIE; Biochemistry & Molecular Biology; Cell Biology; 2015-OAK-0000023230; https://oasis.postech.ac.kr/handle/2014.oak/11700Test; 11899; MOLECULAR AND CELLULAR BIOLOGY, v.31, no.4, pp.700 - 709; 000286596600009; 2-s2.0-79251565823

الإتاحة: https://doi.org/10.1128/MCB.00740-10Test
https://oasis.postech.ac.kr/handle/2014.oak/11700Test

المؤلفون: Michael C Schmid, Florine Scheidegger, Michaela Dehio, Nadège Balmelle-Devaux, Ralf Schulein, Patrick Guye, Cuddapah S Chennakesava, Barbara Biedermann, Christoph Dehio

المصدر: PLoS Pathogens, Vol 2, Iss 11, p e115 (2006)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC1657063?pdf=renderTest; https://doaj.org/toc/1553-7366Test; https://doaj.org/toc/1553-7374Test

الوصول الحر: https://doaj.org/article/eedc6982d39e45a286df30e989c9759bTest

المؤلفون: Roh, TY, Cuddapah, S, Cui, KR, Zhao, KJ

المساهمون: 생명과학과, 10138348, Roh, TY

مصطلحات موضوعية: EMBRYONIC STEM-CELLS, H3 METHYLATION, TRANSCRIPTIONAL REGULATION, MODIFICATION PATTERN, CHROMATIN-STRUCTURE, ACETYLATION, GENES, HETEROCHROMATIN, REGULATORS, PROMOTERS, chromatin landscape, epigenome, gene expression, genome-wide mapping

العلاقة: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; 103; 43; 15782; 15787; SCI급, SCOPUS 등재논문; SCI; Multidisciplinary Sciences; Science & Technology - Other Topics; 2015-OAK-0000016571; https://oasis.postech.ac.kr/handle/2014.oak/12740Test; 6777; PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.103, no.43, pp.15782 - 15787; 000241568500012

الإتاحة: https://doi.org/10.1073/PNAS.0607617Test
https://oasis.postech.ac.kr/handle/2014.oak/12740Test

المؤلفون: Schmid, Michael C., Scheidegger, Florine, Dehio, Michaela, Balmelle-Devaux, Nadège, Schulein, Ralf, Guye, Patrick, Chennakesava, Cuddapah S., Biedermann, Barbara, Dehio, Christoph

المصدر: PLoS Pathogens ; volume 2, issue 11, page e115 ; ISSN 1553-7366 1553-7374

الإتاحة: https://doi.org/10.1371/journal.ppat.0020115Test

المؤلفون: Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

المصدر: Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p645-652, 8p