Results for
""Exons""[mesh_terms]

A transient in planta editing assay identifies specific binding of the splicing regulator PTB as a prerequisite for cassette exon inclusion.

Andreas Wachter, Julia Bauer, Jorinde Loeser, Kim Janßen, Kevin Rockenbach

Plant molecular biology 2024;114(2):22

CIRCexplorer pipelines for circRNA annotation and quantification from non-polyadenylated RNA-seq datasets.

Xu-Kai Ma, Wei Xue, Ling-Ling Chen, Li Yang

Methods (San Diego, Calif.) 2022;196():3-10

Exonic Circular RNAs Are Involved in Immune Response Against Bacterial and Fungal Pathogens and Function Synergistically with Corresponding Linear RNAs.

Lin Wang, Jiao Li, Baohuan Guo, Le Xu, Leyao Li, Xiaoning Song, Xiaoyan Wang, Xuebin Zeng, Lihua Wu, Dongdong Niu, Kai Sun, Xiaoyong Sun, Hongwei Zhao

Phytopathology 2022;112(3):608-619

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Jennifer Schymick, Peter Leahy, Tina Cowan, Maura R Z Ruzhnikov, Ryan Gates, Liliana Fernandez, Gopal Pramanik, Vamsi Yarlagadda, Matthew Wheeler, Jonathan A Bernstein, Gregory M Enns, Chung Lee

American journal of medical genetics. Part A 2022;188(2):473-487

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S Liu, Alain Verloes, Amelle G Shillington, Kosuke Izumi, Alyssa L Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M Tarpinian, Emma Bedoukian, Mary K Kukolich, A Micheil Innes, Grace U Ediae, Sarah L Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R Subbaraman, Frank J Probst, Jennifer A Bassetti, Reid V Sutton, Richard A Gibbs, Chester Brown, Philip M Boone, Ingrid A Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A Zarate, Katherine A Bosanko, Klaus Dieterich, John C Carey, Jessica X Chong, Deborah A Nickerson, Michael J Bamshad, Brendan H Lee, Xiang-Jiao Yang, James R Lupski, Philippe M Campeau

Genetics in medicine : official journal of the American College of Medical Genetics 2021;22(8):1338-1347

Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review.

Zachary Tavallaee, Tyler Hamby, Warren Marks

Journal of clinical neuromuscular disease 2022;24(2):106-110

Role of CRISPR/Cas9 in the treatment of Duchenne muscular dystrophy and its delivery strategies.

Pooja Agrawal, Vancha Harish, Sharfuddin Mohd, Sachin Kumar Singh, Devesh Tewari, Ramanjireddy Tatiparthi, Sukriti Vishwas, Srinivas Sutrapu, Kamal Dua, Monica Gulati

Life sciences 2023;330():122003

Mutation Hotspots in the β-Catenin Gene: Lessons from the Human Cancer Genome Databases.

Sewoon Kim, Sunjoo Jeong

Molecules and cells 2019;42(1):8-16

INTS11-related neurodevelopmental disorder: a case report and literature review.

Yilong Wang, Feng Gao, Xin Zhang, Lihua Jiang, Weiqin Zhang, Zhefeng Yuan

Journal of human genetics 2024;69(12):669-673

Characterization of the contradictory chromatin signatures at the 3' exons of zinc finger genes.

Kimberly R Blahnik, Lei Dou, Lorigail Echipare, Sushma Iyengar, Henriette O'Geen, Erica Sanchez, Yongjun Zhao, Marco A Marra, Martin Hirst, Joseph F Costello, Ian Korf, Peggy J Farnham

PloS one 2012;6(2):e17121

Novel Exon 7 Deletions in in a Three-Generation FEVR Family: A Case Report and Literature Review.

Zixuan Jiang, Panfeng Wang

Genes 2023;14(3):587

Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.

Nathaniel K Mullin, Andrew P Voigt, Jessica A Cooke, Laura R Bohrer, Erin R Burnight, Edwin M Stone, Robert F Mullins, Budd A Tucker

Progress in retinal and eye research 2021;83():100918

Clinical features associated with glucocorticoid receptor polymorphisms. An overview.

Laura Manenschijn, Erica L T van den Akker, Steven W J Lamberts, Elisabeth F C van Rossum

Annals of the New York Academy of Sciences 2009;1179():179-98

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.

Kosar Asna Ashari, Aileen Azari-Yam, Mohammad Shahrooei, Vahid Ziaee

Journal of medical case reports 2023;17(1):369