المؤلفون: Abecasis, Gonçalo, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Ferrando, Adolfo, Lotta, Luca A, Shuldiner, Alan, Siminovitch, Katherine, Beechert, Christina, Brian, Erin D, Cremona, Laura M, Du, Hang, Forsythe, Caitlin, Gu, Zhenhua, Guevara, Kristy, Lattari, Michael, Manoochehri, Kia, Challa, Prathyusha, Pradhan, Manasi, Reynoso, Raymond, Schiavo, Ricardo, Padilla, Maria Sotiropoulos, Wang, Chenggu, Wolf, Sarah E, Averitt, Amelia, Banerjee, Nilanjana, Li, Dadong, Malhotra, Sameer, Mower, Justin, Sarwar, Mudasar, Staples, Jeffrey C, Yu, Sean, Zhang, Aaron, Bunyea, Andrew, Punuru, Krishna Pawan, Sreeram, Sanjay, Eom, Gisu, Sultan, Benjamin, Lanche, Rouel, Mahajan, Vrushali, Austin, Eliot, O’Keeffe, Sean, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Zhang, Lance, Edelstein, Evan, Guan, Ju, Krasheninina, Olga, Zarate, Samantha, Mansfield, Adam J, Maxwell, Evan K, Sun, Kathie, Ferreira, Manuel Allen Revez, Burch, Kathy, Campos, Adrian, Chen, Lei, Choi, Sam, Damask, Amy, Gaynor, Sheila, Geraghty, Benjamin, Ghosh, Arkopravo, Martinez, Salvador Romero, Gillies, Christopher, Gurski, Lauren, Herman, Joseph, Jorgenson, Eric, Kessler, Michael, Kosmicki, Jack, Lin, Nan, Locke, Adam, Nakka, Priyanka, Landheer, Karl, Delaneau, Olivier, Ghoussaini, Maya, Mbatchou, Joelle, Moscati, Arden, Pandey, Aditeya, Pandit, Anita, Paulding, Charles, Ross, Jonathan, Sidore, Carlo, Stahl, Eli, Suciu, Maria, VandeHaar, Peter, Vedantam, Sailaja, Vrieze, Scott, Zhang, Jingning, Wang, Rujin, Wu, Kuan-Han, Ye, Bin, Zhang, Blair, Ziyatdinov, Andrey, Zou, Yuxin, Watanabe, Kyoko, Tang, Mira, Hobbs, Brian, Silver, Jon, Palmer, William, Guerreiro, Rita

المصدر: Nature. 631(8021)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Precision Medicine, Clinical Research, Minority Health, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Good Health and Well Being, Humans, Alleles, Exome, Exome Sequencing, Gene Frequency, Genetic Variation, Heterozygote, Loss of Function Mutation, Mutation, Missense, Open Reading Frames, Proteins, RNA Splice Sites, Regeneron Genetics Center, RGC-ME Cohort Partners, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/06w2x0g7
https://escholarship.org/content/qt06w2x0g7/qt06w2x0g7.pdf

المؤلفون: Sarka, Kenna, Katzman, Sol, Zahler, Alan

المصدر: RNA. 30(6)

مصطلحات موضوعية: C. elegans, SNRNP27, alternative splicing, snu66, spliceosome, Spliceosomes, RNA Splice Sites, Caenorhabditis elegans, Animals, RNA, Small Nuclear, Caenorhabditis elegans Proteins, Mutation, Humans, RNA Splicing, Ribonucleoproteins, Small Nuclear, Alternative Splicing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4q77411t
https://escholarship.org/content/qt4q77411t/qt4q77411t.pdf

المؤلفون: Osterhoudt, Kenneth, Bagno, Orazio, Katzman, Sol, Zahler, Alan

المصدر: RNA. 30(4)

مصطلحات موضوعية: C* complex, DDX41, PRP22, RNA helicase, splicing, Humans, RNA Splice Sites, Spliceosomes, RNA Splicing, Alternative Splicing, RNA Helicases, DNA Helicases, DEAD-box RNA Helicases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9040s61r

المؤلفون: Rudolfs, Boris, Zhang, Cheng, Lyumkis, Dmitry, Toor, Navtej, Haack, Daniel

المصدر: Nature Structural & Molecular Biology. 31(1)

مصطلحات موضوعية: RNA Splice Sites, Cryoelectron Microscopy, RNA Splicing, Spliceosomes, Introns, Adenosine, RNA Precursors, Nucleic Acid Conformation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0777d699

المؤلفون: Roy, Kevin, Gabunilas, Jason, Neutel, Dean, Ai, Michelle, Yeh, Zoe, Samson, Joyce, Lyu, Guochang, Chanfreau, Guillaume

المصدر: Nucleic Acids Research. 51(22)

مصطلحات موضوعية: Alternative Splicing, RNA Splice Sites, RNA Splicing, RNA Splicing Factors, Saccharomyces cerevisiae, Spliceosomes, Saccharomyces cerevisiae Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2ws0q52v
https://escholarship.org/content/qt2ws0q52v/qt2ws0q52v.pdf

المؤلفون: Melamed, Zeev, López-Erauskin, Jone, Beccari, Melinda, Ling, Karen, Zuberi, Aamir, Presa, Maximilliano, Gonzalo-Gil, Elena, Maimon, Roy, Vazquez-Sanchez, Sonia, Chaturvedi, Som, Bravo-Hernández, Mariana, Taupin, Vanessa, Moore, Stephen, Artates, Jonathan, Acks, Eitan, Ndayambaje, I, Agra de Almeida Quadros, Ana, Jafar-Nejad, Paayman, Rigo, Frank, Bennett, C, Lutz, Cathleen, Lagier-Tourenne, Clotilde, Cleveland, Don, Baughn, Michael

المصدر: Science. 379(6637)

مصطلحات موضوعية: Animals, Humans, Mice, DNA-Binding Proteins, Polyadenylation, RNA Precursors, Stathmin, TDP-43 Proteinopathies, RNA Splicing, RNA Splice Sites, Gene Editing, Oligonucleotides, Antisense, Neuronal Outgrowth

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0jb936p7

المؤلفون: Carranza, Francisco, Shenasa, Hossein, Hertel, Klemens J

المصدر: RNA Biology. 19(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Alternative Splicing, Exons, Introns, RNA Splice Sites, RNA Splicing, Alternative splicing, exon definition, Intron-exon architecture, splice site selection, bioinformatics, molecular biology, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1tf4d408
https://escholarship.org/content/qt1tf4d408/qt1tf4d408.pdf

المؤلفون: Cartwright-Acar, Catiana, Osterhoudt, Kenneth, Suzuki, Jessie, Gomez, Destiny, Katzman, Sol, Zahler, Alan

المصدر: Nucleic Acids Research. 50(20)

مصطلحات موضوعية: Animals, Humans, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Mutation, Ribonucleoprotein, U5 Small Nuclear, Ribonucleoproteins, Small Nuclear, RNA Helicases, RNA Precursors, RNA Splice Sites, RNA Splicing, RNA-Binding Proteins, Saccharomyces cerevisiae, Spliceosomes, RNA Splicing Factors

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1gx1z8p0
https://escholarship.org/content/qt1gx1z8p0/qt1gx1z8p0.pdf

المؤلفون: von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada MH, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

المصدر: Brain. 145(4)

مصطلحات موضوعية: Brain Disorders, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetics, Aetiology, 2.1 Biological and endogenous factors, DNA-Binding Proteins, Growth Disorders, Humans, Intellectual Disability, Membrane Proteins, Microcephaly, Neurodevelopmental Disorders, Nuclear Proteins, RNA Splice Sites, RNA-Binding Proteins, Repressor Proteins, exome sequencing, homozygous, major spliceosome, splicing, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33p8941r

المؤلفون: Waldrop, Megan A, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Medne, Livja, Finkel, Richard, Connolly, Anne M, Crawford, Thomas O, Drachman, Daniel, Wein, Nicolas, Habib, Ali A, Krzesniak-Swinarska, Monika A, Zaidman, Craig M, Collins, James J, Jokela, Manu, Udd, Bjarne, Day, John W, Ortiz-Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J, Dunn, Diane M, Weiss, Robert B, Flanigan, Kevin M

المصدر: Human mutation. 43(4)

مصطلحات موضوعية: Humans, Muscular Dystrophy, Duchenne, Dystrophin, RNA Splice Sites, Mutation, Introns, Becker muscular dystrophy, Duchenne muscular dystrophy, deep intronic, pseudoexon, telescripting, transcription termination, Muscular Dystrophy, Biotechnology, Human Genome, Genetics, Intellectual and Developmental Disabilities (IDD), Duchenne/ Becker Muscular Dystrophy, Brain Disorders, Rare Diseases, Pediatric, Musculoskeletal, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9k94v14s

المؤلفون: Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai

المصدر: Heliyon, Vol 10, Iss 5, Pp e26912- (2024)

مصطلحات موضوعية: Methylmalonic acidemia, MMUT gene, Variant, RNA splicing, RNA splice sites, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024029438; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/f74b1d1e15de4b80bd5e65b288cd6097

المؤلفون: Jiang, Jyun-Yu, Ju, Chelsea J-T, Hao, Junheng, Chen, Muhao, Wang, Wei

المصدر: Bioinformatics. 37(Supplement_1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Networking and Information Technology R&D (NITRD), Machine Learning and Artificial Intelligence, Genetics, Human Genome, Generic health relevance, Neural Networks, Computer, RNA, RNA Splice Sites, RNA Splicing, RNA, Circular, RNA, Long Noncoding, Mathematical Sciences, Information and Computing Sciences, Bioinformatics, Biological sciences, Information and computing sciences, Mathematical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7gx7q7h0
https://escholarship.org/content/qt7gx7q7h0/qt7gx7q7h0.pdf

المؤلفون: Yelskaya, Zarina, Arnold, Angela G, Marcell, Vanessa J, Tang, Laura H, Salo-Mullen, Erin E, Strong, Vivian E, Stadler, Zsofia K, Zhang, Liying

المصدر: European Journal of Human Genetics. 29(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Rare Diseases, Digestive Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Substitution, Antigens, CD, Biopsy, Cadherins, Computational Biology, DNA Mutational Analysis, Databases, Genetic, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Immunohistochemistry, Male, Mutation, Pedigree, RNA Splice Sites, RNA Splicing, Stomach Neoplasms, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2d56n3m5

المؤلفون: Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L, Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C, Ganesh, Vijay S, Ma, Jialan, Ellingford, Jamie M, Delage, Erwan, D'Souza, Elston N, Dong, Shan, Adams, David R, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Coman, David J, Compton, Alison G, Cunningham, Chloe A, D'Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C, Dias, Kerith-Rae, Elias, Ellen R, Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Goriely, Anne, Grant, Christina L, Haack, Tobias, Higgs, Jenny E, Hinch, Anjali G, Hurles, Matthew E, Kuechler, Alma, Lachlan, Katherine L, Lalani, Seema R, Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lindsay, Sarah, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Mansour, Sahar, Maurer, Taylor M, Mendez, Hector R, Metcalfe, Kay, Montgomery, Stephen B, Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O'Donoghue, Michael, O'Leary, Melanie, Palmer, Elizabeth E, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L, Reuter, Chloe M, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A, Sachdev, Rani, Shaw-Smith, Charles J, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna E L, Thorburn, David R, Tifft, Cynthia J, Uebergang, Eloise, VanNoy, Grace E, Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Wright, Caroline F, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna M M, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Nature, Vol. 632, no.8026, p. 832-840 (2024)

مصطلحات موضوعية: Adolescent, Child, Preschool, Female, Humans, Infant, Male, Young Adult, Alleles, Brain, Heterozygote, Mutation, Neurodevelopmental Disorders, RNA Splice Sites, RNA, Small Nuclear, Spliceosomes, Syndrome, Rare Diseases, Gene Expression Regulation, Developmental

Relation: boreal:296800; http://hdl.handle.net/2078.1/296800; info:pmid/38991538

الاتاحة: http://hdl.handle.net/2078.1/296800
https://doi.org/10.1038/s41586-024-07773-7

المؤلفون: Pulli, Kristiina, Saarimäki-Vire, Jonna, Ahonen, Pekka, Liu, Xiaonan, Ibrahim, Hazem, Chandra, Vikash, Santambrogio, Alice, Wang, Yafei, Vaaralahti, Kirsi, Iivonen, Anna-Pauliina, Känsäkoski, Johanna, Tommiska, Johanna, Kemkem, Yasmine, Varjosalo, Markku, Vuoristo, Sanna, Andoniadou, Cynthia L, Otonkoski, Timo, Raivio, Taneli

المصدر: Pulli , K , Saarimäki-Vire , J , Ahonen , P , Liu , X , Ibrahim , H , Chandra , V , Santambrogio , A , Wang , Y , Vaaralahti , K , Iivonen , A-P , Känsäkoski , J , Tommiska , J , Kemkem , Y , Varjosalo , M , Vuoristo , S , Andoniadou , C L , Otonkoski , T & Raivio , T 2024 , ' A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes ' , JCI Insight , vol. 9 , ....

مصطلحات موضوعية: Insulin-Secreting Cells/metabolism, Humans, Animals, Mice, Male, Gonadotrophs/metabolism, Female, RNA Splice Sites/genetics, Cell Line, Insulin/metabolism, Siblings, Exons/genetics, rab3 GTP-Binding Proteins/metabolism, Hypogonadism/genetics

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/8f8d1e94-cdc8-43b3-8bd8-15bffe6c0db9
https://doi.org/10.1172/jci.insight.167598
http://www.scopus.com/inward/record.url?scp=85194024790&partnerID=8YFLogxK

المؤلفون: Turton, Keren B, Esnault, Stéphane, DeLain, Larissa P, Mosher, Deane F

المساهمون: Université de Lille, Inserm, CHU Lille, University of Wisconsin School of Medicine and Public Health

مصطلحات موضوعية: Alternative Splicing, Base Sequence, DNA Primers, Humans, Protein Isoforms, RNA Splice Sites, RNA, Messenger, Real-Time Polymerase Chain Reaction, STAT3 Transcription Factor

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: Journal of visualized experiments : JoVE; J Vis Exp; http://hdl.handle.net/20.500.12210/88627

الاتاحة: https://hdl.handle.net/20.500.12210/88627

المؤلفون: Turton, Keren B, Annis, Douglas S, Rui, Lixin, Esnault, Stéphane, Mosher, Deane F

المساهمون: Université de Lille, Inserm, CHU Lille, University of Wisconsin School of Medicine and Public Health

مصطلحات موضوعية: Alternative Splicing, Amino Acid Sequence, B-Lymphocytes, Base Sequence, Cell Line, Tumor, Eosinophils, Germinal Center, Humans, Lymphoma, Large B-Cell, Diffuse, Molecular Sequence Data, RNA Splice Sites, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reproducibility of Results, STAT3 Transcription Factor, Transcription, Genetic

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8

Relation: PLoS ONE; http://hdl.handle.net/20.500.12210/89220

الاتاحة: https://hdl.handle.net/20.500.12210/89220

المؤلفون: Holm, Lise L, Doktor, Thomas K, Flugt, Katharina K, Petersen, Ulrika S S, Petersen, Rikke, Andresen, Brage S

المصدر: Holm , L L , Doktor , T K , Flugt , K K , Petersen , U S S , Petersen , R & Andresen , B S 2024 , ' All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing ' , Nucleic Acids Research , vol. 52 , no. 8 , pp. 4588-4603 . https://doi.org/10.1093/nar/gkae077

مصطلحات موضوعية: Exons/genetics, Humans, Mutation, RNA Splicing, RNA Splice Sites

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/9297d712-0ab3-49a1-b4b5-602e9d8d305a

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/9297d712-0ab3-49a1-b4b5-602e9d8d305a
https://doi.org/10.1093/nar/gkae077
https://findresearcher.sdu.dk/ws/files/260283143/gkae077.pdf

المؤلفون: Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

المصدر: European Journal of Human Genetics. 29(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Neurosciences, Human Genome, Pediatric, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Codon, Nonsense, Exome, Exons, Female, Homozygote, Humans, Male, Microcephaly, Nerve Tissue Proteins, Neurodevelopmental Disorders, Pedigree, RNA Splice Sites, RNA Splicing, Syndrome, Vesicular Transport Proteins, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8rz7m8qm

المؤلفون: Altieri, Jessie AC, Hertel, Klemens J

المصدر: PLOS ONE. 16(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Alternative Splicing, HEK293 Cells, Humans, Nucleic Acid Conformation, RNA Precursors, RNA Splice Sites, RNA Stability, Staining and Labeling, Thiouridine, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1s38687c
https://escholarship.org/content/qt1s38687c/qt1s38687c.pdf