المؤلفون: Remeseiro, Silvia, Cuadrado, Ana, Kawauchi, Shimako, Calof, Anne L, Lander, Arthur D, Losada, Ana

المصدر: Biochimica et biophysica acta. 1832(12)

مصطلحات موضوعية: Brain, Cells, Cultured, Fibroblasts, Animals, Mice, Knockout, Mice, De Lange Syndrome, Disease Models, Animal, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Transcription Factors, RNA, Messenger, Fluorescent Antibody Technique, Blotting, Western, In Situ Hybridization, Fluorescence, Reverse Transcriptase Polymerase Chain Reaction, Chromosome Segregation, Cell Survival, DNA Repair, DNA Replication, Transcription, Genetic, Heterozygote, Phenotype, Embryo, Mammalian, Promoter Regions, Genetic, Real-Time Polymerase Chain Reaction, Cohesin, Cornelia de Lange Syndrome, Mouse model, Nibpl, Transcription, Cells, Cultured, Knockout, Disease Models, Animal, Chromosomal Proteins, Non-Histone, RNA, Messenger, Blotting, Western, In Situ Hybridization, Fluorescence, Genetic, Embryo, Mammalian, Promoter Regions, Intellectual and Developmental Disabilities, Neurosciences, Brain Disorders, Pediatric, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Congenital Disorders, Biological Sciences, Physical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/03h363zc

المؤلفون: Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen

المصدر: Medicina; Volume 56; Issue 2; Pages: 76

مصطلحات موضوعية: Cornelia de Lange, de novo mutation, NIBPL, c.6697G>A, c.2602C>T, c.4504delG, whole exome sequencing

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/medicina56020076

الاتاحة: https://doi.org/10.3390/medicina56020076

المؤلفون: Chi Dung Vu, Can Thi Bich Ngoc, Duong Chi Thanh, Huy Hoang Nguyen, Ngoc-Lan Nguyen, Nguyen Van Tung

المصدر: Medicina, Vol 56, Iss 2, p 76 (2020)
Medicina

مصطلحات موضوعية: Cornelia de Lange Syndrome, Cohesin complex, In silico, Case Report, Disease, whole exome sequencing, medicine, c.2602c>, Gene, Exome sequencing, Genetics, NIBPL, lcsh:R5-920, business.industry, c.2602C>T, c.6697g>, NIPBL, General Medicine, c.6697G>A, medicine.disease, Phenotype, de novo mutation, cornelia de lange, business, lcsh:Medicine (General), nibpl, c.4504delg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d18e4a55944528a079423e05ab4705d
https://www.mdpi.com/1010-660X/56/2/76

المؤلفون: Minina, Elena A., Reza, Salim Hossaim, Gutiérrez-Beltrán, Emilio, Elander, Pernilla H., Bozhkov, Peter V., Moschou, Panagiotis N.

المساهمون: The Erling-Persson Family Foundation, Swedish Research Council, Swedish Foundation for Strategic Research, Olle Engkvist Foundation, Knut and Alice Wallenberg Foundation, Carl Trygger Foundation

مصطلحات موضوعية: MAU2, Arabidopsis, Auxin, Cohesin-loading complex, Scc4, Scc2, NIBPL, Embryogenesis

Relation: http://doi.org/10.1242/jcs.196865; Sí; Journal of Cell Science 130: 1051-1063 (2017); http://hdl.handle.net/10261/190031; http://dx.doi.org/10.13039/501100002805; http://dx.doi.org/10.13039/501100004063; http://dx.doi.org/10.13039/501100004200

الاتاحة: http://hdl.handle.net/10261/190031
https://doi.org/10.1242/jcs.19686
https://doi.org/10.13039/501100002805
https://doi.org/10.13039/501100004063
https://doi.org/10.13039/501100004200

المؤلفون: Silvia Remeseiro, Anne L. Calof, Ana Cuadrado, Shimako Kawauchi, Arthur D. Lander, Ana Losada

المصدر: Remeseiro, S; Cuadrado, A; Kawauchi, S; Calof, AL; Lander, AD; & Losada, A. (2013). Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochimica et Biophysica Acta-Molecular Basis of Disease, 1832(12), 2097-2102. doi: 10.1016/j.bbadis.2013.07.020. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/03h363zc

مصطلحات موضوعية: DNA Repair, Transcription, Genetic, Chromosomal Proteins, Non-Histone, Fluorescent Antibody Technique, Cell Cycle Proteins, Chromosome segregation, Nibpl, Mice, 0302 clinical medicine, Chromosome Segregation, De Lange Syndrome, Promoter Regions, Genetic, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics, Mice, Knockout, Cohesin, 0303 health sciences, Reverse Transcriptase Polymerase Chain Reaction, Genetic disorder, Brain, Phenotype, Molecular Medicine, biological phenomena, cell phenomena, and immunity, Transcription, DNA Replication, Heterozygote, Cornelia de Lange Syndrome, DNA repair, Cell Survival, Blotting, Western, Biology, Real-Time Polymerase Chain Reaction, Article, Mouse model, 03 medical and health sciences, medicine, Animals, RNA, Messenger, Molecular Biology, 030304 developmental biology, Cohesin loading, Promoter, NIPBL, Fibroblasts, medicine.disease, Embryo, Mammalian, Disease Models, Animal, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d118dcdca3e4ae7e4efce6aaf3c525

المؤلفون: The Erling-Persson Family Foundation, Swedish Research Council, Swedish Foundation for Strategic Research, Olle Engkvist Foundation, Knut and Alice Wallenberg Foundation, Carl Trygger Foundation, Minina, Elena A., Reza, Salim Hossaim, Gutiérrez-Beltrán, Emilio, Elander, Pernilla H., Bozhkov, Peter V., Moschou, Panagiotis N.

مصطلحات الفهرس: MAU2, Arabidopsis, Auxin, Cohesin-loading complex, Scc4, Scc2, NIBPL, Embryogenesis, artículo

URL: http://hdl.handle.net/10261/190031
http://doi.org/10.1242/jcs.196865
http://doi.org/10.1242/jcs.196865
Sí