المؤلفون: Kline, Antonie D, Krantz, Ian D, Bando, Masashige, Shirahige, Katsuhiko, Chea, Stephenson, Sakata, Toyonori, Rao, Suhas, Dorsett, Dale, Singh, Vijay Pratap, Gerton, Jennifer L, Horsfield, Julia A, Calof, Anne L, Katz, Olivia, Grados, Marco, Raible, Sarah, Barañano, Kristin, Lyon, Gholson, Musio, Antonio, Carrico, Cheri S, Clemens, Douglas K, Caudill, Patti, Massa, Valentina, McGill, Bryan E, Dommestrup, Aila, O'Connor, Julia, Haaland, Richard E

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Neurosciences, Rare Diseases, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Genetic Association Studies, Genetic Predisposition to Disease, Humans, behavior, CdLS, cohesin complex, de Lange syndrome, loop domains, transcription regulation, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/361874t8Test

المؤلفون: Mullegama, Sureni, Klein, Steven, Signer, Rebecca, Vilain, Eric, Martinez-Agosto, Julian

المصدر: Molecular Genetics and Genomic Medicine. 7(2)

مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/759783h7Test

المؤلفون: Christina-Nefeli Kontandreopoulou, Konstantinos Kalopisis, Nora-Athina Viniou, Panagiotis Diamantopoulos

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: MDS, genetic mutations, spliceosome, epigenetics, transcription factors, cohesin complex, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2022.989483/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/664cc526a9f442cb909309e442951c36Test

المؤلفون: Mullegama, Sureni, Klein, Steven, Mulatinho, Milene, Senaratne, Tharanga, Singh, Kathryn, Nguyen, Dzung, Gallant, Natalie, Strom, Samuel, Ghahremani, Shahnaz, Rao, Nagesh, Martinez-Agosto, Julian

المصدر: The American Journal of Medical Genetics - Part A. 173(5)

مصطلحات موضوعية: cohesin complex, STAG2, X-linked, cohesin-associated genes, cohesinopathy, gene dosage, Antigens, Nuclear, Cell Cycle Proteins, Child, Chromosomal Proteins, Non-Histone, Congenital Abnormalities, Developmental Disabilities, Female, Gene Expression Regulation, Heterozygote, Humans, Microcephaly, Cohesins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/30h6s1pdTest

المؤلفون: Kline, Antonie D, Krantz, Ian D, Deardorff, Matthew A, Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L, Wu, Meng, Mehta, Devanshi, Mills, Jason A, Carrico, Cheri S, Noon, Sarah, Herrera, Pamela S, Horsfield, Julia A, Bettale, Chiara, Morgan, Jeremy, Huisman, Sylvia A, Moss, Jo, McCleery, Joseph, Grados, Marco, Hansen, Blake D, Srivastava, Siddharth, Taylor‐Snell, Emily, Kerr, Lynne M, Katz, Olivia, Calof, Anne L, Musio, Antonio, Egense, Alena, Haaland, Richard E

المصدر: American Journal of Medical Genetics Part A. 173(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Good Health and Well Being, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Humans, Phenotype, behavior, CdLS, cohesin complex, cohesinopathy, de Lange syndrome, intellectual disability, transcription, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3vn936cpTest

المؤلفون: Schedel A., Friedrich U. A., Morcos M. N. F., Wagener R., Mehtonen J., Watrin T., Saitta C., Brozou T., Michler P., Walter C., Forsti A., Baksi A., Menzel M., Horak P., Paramasivam N., Fazio G., Autry R. J., Frohling S., Suttorp M., Gertzen C., Gohlke H., Bhatia S., Wadt K., Schmiegelow K., Dugas M., Richter D., Glimm H., Heinaniemi M., Jessberger R., Cazzaniga G., Borkhardt A., Hauer J., Auer F.

المساهمون: Schedel, A, Friedrich, U, Morcos, M, Wagener, R, Mehtonen, J, Watrin, T, Saitta, C, Brozou, T, Michler, P, Walter, C, Forsti, A, Baksi, A, Menzel, M, Horak, P, Paramasivam, N, Fazio, G, Autry, R, Frohling, S, Suttorp, M, Gertzen, C, Gohlke, H, Bhatia, S, Wadt, K, Schmiegelow, K, Dugas, M, Richter, D, Glimm, H, Heinaniemi, M, Jessberger, R, Cazzaniga, G, Borkhardt, A, Hauer, J, Auer, F

مصطلحات موضوعية: acute lymphoblastic leukemia, cohesin complex, germline cancer predisposition, RAD21, trio sequencing

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35563565; info:eu-repo/semantics/altIdentifier/wos/WOS:000794632900001; volume:23; issue:9; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10281/389763Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85129433052

الإتاحة: https://doi.org/10.3390/ijms23095174Test
http://hdl.handle.net/10281/389763Test

المؤلفون: Anne Schedel, Ulrike Anne Friedrich, Mina N. F. Morcos, Rabea Wagener, Juha Mehtonen, Titus Watrin, Claudia Saitta, Triantafyllia Brozou, Pia Michler, Carolin Walter, Asta Försti, Arka Baksi, Maria Menzel, Peter Horak, Nagarajan Paramasivam, Grazia Fazio, Robert J Autry, Stefan Fröhling, Meinolf Suttorp, Christoph Gertzen, Holger Gohlke, Sanil Bhatia, Karin Wadt, Kjeld Schmiegelow, Martin Dugas, Daniela Richter, Hanno Glimm, Merja Heinäniemi, Rolf Jessberger, Gianni Cazzaniga, Arndt Borkhardt, Julia Hauer, Franziska Auer

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 5174

مصطلحات موضوعية: acute lymphoblastic leukemia, trio sequencing, germline cancer predisposition, RAD21, cohesin complex

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23095174Test

الإتاحة: https://doi.org/10.3390/ijms23095174Test

المؤلفون: Cindy Wavelet-Vermuse, Olena Odnokoz, Yifan Xue, Xinghua Lu, Massimo Cristofanilli, Yong Wan

المصدر: Cancers; Volume 14; Issue 15; Pages: 3732

مصطلحات موضوعية: CDC20, hnRNPU, mitotic slippage, cohesin complex, chromatin condensation, drug resistance

وصف الملف: application/pdf

العلاقة: Molecular Cancer Biology; https://dx.doi.org/10.3390/cancers14153732Test

الإتاحة: https://doi.org/10.3390/cancers14153732Test

المؤلفون: Luo, Huacheng, Zhu, Ganqian, Eshelman, Melanie A., Fung, Tsz Kan, Lai, Qian, Wang, Fei, Zeisig, Bernd B., Lesperance, Julia, Ma, Xiaoyan, Chen, Shi, Cesari, Nicholas, Cogle, Christopher, Chen, Baoan, Xu, Bing, Yang, Feng Chun, So, Chi Wai Eric, Qiu, Yi, Xu, Mingjiang, Huang, Suming

المصدر: Luo , H , Zhu , G , Eshelman , M A , Fung , T K , Lai , Q , Wang , F , Zeisig , B B , Lesperance , J , Ma , X , Chen , S , Cesari , N , Cogle , C , Chen , B , Xu , B , Yang , F C , So , C W E , Qiu , Y , Xu , M & Huang , S 2022 , ' HOTTIP-dependent R-loop formation regulates CTCF boundary activity and TAD integrity in leukemia ' , MOLECULAR ....

مصطلحات موضوعية: AML leukemogenesis, canonical Wnt transcription, cohesin complex, CTCF chromatin boundary, enhancer/promoter interactions, HOTTIP lncRNA, R-loops, TAD formation

الإتاحة: https://doi.org/10.1016/j.molcel.2022.01.014Test
https://kclpure.kcl.ac.uk/portal/en/publications/b2f00eef-58d1-4ecd-a319-171189634bc9Test
http://www.scopus.com/inward/record.url?scp=85124504701&partnerID=8YFLogxKTest

المؤلفون: Kline, Antonie D, Calof, Anne L, Lander, Arthur D, Gerton, Jennifer L, Krantz, Ian D, Dorsett, Dale, Deardorff, Matthew A, Blagowidow, Natalie, Yokomori, Kyoko, Shirahige, Katsuhiko, Santos, Rosaysela, Woodman, Julie, Megee, Paul C, O'Connor, Julia T, Egense, Alena, Noon, Sarah, Belote, Maurice, Goodban, Marjorie T, Hansen, Blake D, Timmons, Jenni Glad, Musio, Antonio, Ishman, Stacey L, Bryan, Yvon, Wu, Yaning, Bettini, Laura R, Mehta, Devanshi, Zakari, Musinu, Mills, Jason A, Srivastava, Siddharth, Haaland, Richard E

المصدر: American journal of medical genetics. Part A. 167(6)

مصطلحات موضوعية: Animals, Zebrafish, Humans, Mice, Drosophila melanogaster, De Lange Syndrome, Disease Models, Animal, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Signal Transduction, Gene Expression Regulation, Developmental, Phenotype, Mutation, Adult, Child, California, CdLS, cohesin complex, cohesinopathy, de Lange syndrome, drosophila, intellectual disability, mice, zebrafish, Disease Models, Animal, Chromosomal Proteins, Non-Histone, Gene Expression Regulation, Developmental, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities, Rare Diseases, Neurosciences, Clinical Sciences, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6d17547nTest