المؤلفون: Campbell, Amy E, Dyle, Michael C, Albanese, Roberto, Matheny, Tyler, Sudheendran, Kavitha, Cortázar, Michael A, Forman, Thomas, Fu, Rui, Gillen, Austin E, Caruthers, Marvin H, Floor, Stephen N, Calviello, Lorenzo, Jagannathan, Sujatha

المصدر: Cell Reports. 42(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Facioscapulohumeral Muscular Dystrophy, Rare Diseases, Stem Cell Research - Embryonic - Human, Stem Cell Research, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Aetiology, 2.1 Biological and endogenous factors, Humans, Gene Expression Regulation, Muscular Dystrophy, Facioscapulohumeral, Nonsense Mediated mRNA Decay, RNA, RNA-Binding Proteins, Serine-Arginine Splicing Factors, CP: Molecular biology, DUX4, FSHD, NMD, RNA decay, dystrophy, muscular, quality control, splicing, translation, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qb0b5nd

المؤلفون: Aranega, Amelia E.^Aff10, Franco, Diego^Aff10

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Rickert-Sperling, Silke, editor^Aff7, Kelly, Robert G., editor^Aff8, Haas, Nikolaus, editor^Aff9

المصدر: Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways. 1441:313-339

المؤلفون: He, Hao, Ge, Linhao, Chen, Yalin, Zhao, Siwen, Li, Zhaolei, Zhou, Xueping^{Aff1, Aff2, IDs1142702223771_cor6}, Li, Fangfang^{Aff1, IDs1142702223771_cor7}

المصدر: Science China Life Sciences. 67(1):161-174

المؤلفون: Ma, Xin, Li, Yan, Chen, Chengyan, Shen, Yanmin, Wang, Hua, Li, Tangliang^{Aff1, Aff2, IDjzusB2300126_cor6}

المصدر: Journal of Zhejiang University-SCIENCE B: Biomedicine & Biotechnology. 24(11):1062-1068

المؤلفون: Yuqiao Ju, Tianhui Chen, Lu Ruan, Ye Zhao, Qing Chang, Xin Huang

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Missense mutation, PTC, NMD, TSPAN12, Familial exudative vitreoretinopathy, UPF1, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/9fcaf2b6f0604a8ba31e2a990e099e4f

المؤلفون: Luha, Rashmita^{Aff1, Aff2}, Rana, Varnika, Vainstein, Alexander, Kumar, Vinay^{Aff1, IDs00425023043177_cor4}

المصدر: Planta: An International Journal of Plant Biology. 259(3)

المؤلفون: Sun, Bo, Chen, Liang^{Aff1, IDs1305902303004w_cor2}

المصدر: Genome Biology. 24(1)

المؤلفون: Valcarce, David G.^{Aff1, Aff2}, Riesco, Marta F., Cuesta-Martín, Leyre, Esteve-Codina, Anna^{Aff3, Aff4}, Martínez-Vázquez, Juan Manuel, Robles, Vanesa^{Aff1, IDs1291502301570w_cor6}

المصدر: BMC Biology. 21(1)

المؤلفون: Ana Carla Batissoco, Dayane Bernardino Cruz, Thiago Geronimo Pires Alegria, Gerson Kobayashi, Jeanne Oiticica, Luis Eduardo Soares Netto, Maria Rita Passos-Bueno, Luciana Amaral Haddad, Regina Célia Mingroni Netto

المصدر: Genetics and Molecular Biology, Vol 47, Iss 2 (2024)

مصطلحات موضوعية: SHED/c.35del, GJB2(Cx26), GJA1(Cx43), cell differentiation, nonsense-mediated mRNA decay (NMD), Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000300102&lng=en&tlng=en; http://www.scielo.br/pdf/gmb/v47n2/1415-4757-GMB-47-02-e20230170.pdf; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/c6713cfb621f46a69541e86a7eda7f3b

المؤلفون: Nicolas Dubuisson, Kristl Claeys, Benedikt Schoser

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: neuromuscular disease (NMD), technology, innovation, MRI, diagnostic tool, artificial intelligence (AI), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1370538/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/2940c811d08e4794843c8055a2637944