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RNA splicing

A study of RNA splicing and protein expression in the living human brain

Brian H. Kopell, Deepak A. Kaji, Lora E. Liharska, Eric Vornholt, Anina Lund, Alice Hashemi, Ryan C. Thompson, Jessica S. Johnson, Nicole Bussola, Esther Cheng, You Jeong Park, Punit Shah, Weiping Ma, Richard Searfoss, Gregory M. Miller, Nischal Mahaveer Chand, Jack Humphrey, Lillian Wilkins, Kimia Ziafat, Hannah Silk, Lisa M. Linares, Brendan Sullivan, Claudia Feng, Vanessa Cohen, Prashant Kota, Emily Moya, Marysia-Kolbe Rieder, Girish N. Nadkarni, Michael S. Breen, Joseph Scarpa, Niven R. Narain, Pei Wang, Michael A. Kiebish, Eric E. Schadt, Noam D. Beckmann, Alexander W. Charney

published 09 Oct 2025

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Transcriptomic analysis implicates the involvement of RBM20 in Fuchs’ endothelial corneal dystrophy with TCF4 repeat expansion

Xunzhi Zhang, Ze Yu, Aundrea K. Westfall, Kunyi Han, V. Vinod Mootha, Chao Xing

published 17 Sep 2025

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Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure

Federico Riccardi, Giulia Romano, Danilo Licastro, Franco Pagani

published 03 Jun 2024

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The impact of genetically controlled splicing on exon inclusion and protein structure

Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

published 13 Mar 2024

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Identification of MYC intron 2 regions that modulate expression

Van S. Tompkins, Zheng Xue, Jake M. Peterson, Warren B. Rouse, Collin A. O’Leary, Walter N. Moss

published 18 Jan 2024

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Transcriptomic meta-analysis reveals ERRα-mediated oxidative phosphorylation is downregulated in Fuchs’ endothelial corneal dystrophy

Xunzhi Zhang, Ashwani Kumar, Adwait A. Sathe, V. Vinod Mootha, Chao Xing

published 14 Dec 2023

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PRMT5 and CDK4/6 inhibition result in distinctive patterns of alternative splicing in melanoma

Lok Hang Chan, Peihan Wang, Shatha Abuhammad, Lydia Rui Jia Lim, Joseph Cursons, Karen E. Sheppard, David L. Goode

published 02 Nov 2023

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The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant

Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hong

published 26 Apr 2023

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HSV-1 and influenza infection induce linear and circular splicing of the long NEAT1 isoform

Marie-Sophie Friedl, Lara Djakovic, Michael Kluge, Thomas Hennig, Adam W. Whisnant, Simone Backes, Lars Dölken, Caroline C. Friedel

published 24 Oct 2022

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Cigarette smoke toxin hydroquinone and misfolding pancreatic lipase variant cooperatively promote endoplasmic reticulum stress and cell death

Norbert Kassay, Vanda Toldi, József Tőzsér, András Szabó

published 15 Jun 2022

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Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity

Mina Obuća, Zuzana Cvačková, Jan Kubovčiak, Michal Kolář, David Staněk

published 06 Apr 2022

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Recursive splicing is a rare event in the mouse brain

Sohyun Moon, Ying-Tao Zhao

published 28 Jan 2022

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Two-step mixed model approach to analyzing differential alternative RNA splicing

Li Luo, Huining Kang, Xichen Li, Scott A. Ness, Christine A. Stidley

published 09 Oct 2020

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