Results 101 to 110 of about 40,676 (197)

A unified mechanism for intron and exon definition and back-splicing. [PDF]

, 2019
The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Cui, Yanxiang, Das, Rhiju, Espinosa, Sara, Hansen, Kirk C, Hill, Ryan C, Issaian, Aaron, Kappel, Kalli, Li, Xueni, Liu, Shiheng, Shi, Shasha, Zhang, Lingdi, Zhao, Rui, Zhou, Z Hong   +12 more
core  

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]

, 2017
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S., Bruckner-Tuderman, Leena, Chen, Mei, Gruber, Christina, Has, Cristina, Hofbauer, Josefina Piñón, Jiang, Qiujie, McGrath, John A., Prisco, Marco, South, Andrew P., Uitto, Jouni   +10 more
core   +1 more source

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

PLoS Genetics
Pathogenic variants in the OCA2 gene result in oculocutaneous albinism. In humans and several other mammalian species, OCA2 is transcribed into two coding mRNAs, a major transcript that encodes the full-length protein and a minor transcript that skips in-
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, Vincent Michaud, David J Green, Shahram Mesdaghi, Orane Le Gallais, Orphée Jouannigot-Castano, Daniel J Rigden, Catherine Estay-Ahumada, David Hicks, Panagiotis I Sergouniotis, Benoit Arveiler, Sophie Javerzat   +13 more
doaj   +1 more source

Mesenchymal‐epithelial transition factor exon 14 skipping mutation‐positive granulocyte colony‐stimulating factor‐producing lung adenocarcinoma mimicking lung abscess: A case report

Respirology Case Reports
Granulocyte colony‐stimulating factor (G‐CSF)‐producing lung tumours are rare, with their imaging features and effective treatments remaining elusive. Similarly, mesenchymal‐epithelial transition (MET) exon 14 skipping mutations are also uncommon. Herein,
Yuka Izumiya, Hidesato Odaka, Toru Kikuchi, Yuri Takita, Takuo Tokairin   +4 more
doaj   +1 more source

Exon-Skipping [PDF]

, 2018
openaire   +1 more source

Inverted Alu repeats in loop-out exon skipping across hominoid evolution. [PDF]

Nucleic Acids Res
Denisko D, Kim J, Ku J, Zhao B, Lee EA.
europepmc   +1 more source

Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes. [PDF]

Genome Biol
Lee H, Cao X, Parada GE, Li JD, Iosub IA, Braunschweig U, Rebelo K, Ule J, Wan Y, Blencowe BJ.   +9 more
europepmc   +1 more source

tRF-3005a regulates exon skipping of SPAG4 by interacting with RALY to drive gastric cancer progression. [PDF]

Cell Death Discov
Cui H, Yuan Y, Yin Y, Gao R, Liu Z, Peng L, Wang J, Wang Z, Song T, Liu J.   +9 more
europepmc   +1 more source

Exon skipping as a potential diagnostic biomarker in colorectal cancer: an integrated epigenomic-transcriptomic analysis​. [PDF]

Hum Genomics
Zhang L, Cui J, Shi J, Cai J, Sun T, Sun G, Li Y, Li H, Xu S, Tang X, Chen Z, Cui H, Xiao F, Zhao G.   +13 more
europepmc   +1 more source

Novel splice-site variants in <i>TMPRSS3</i> impair hearing via exon skipping and abrogated protease activity. [PDF]

Front Genet
Wang X, Wang WQ, Huang SS, Wang X, Hu LM, Liu X, Wang QQ, Wang ZD, Xu JC, Yuan YY, Gao X.   +10 more
europepmc   +1 more source