Results 171 to 180 of about 49,802 (297)

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element [PDF]

, 2000
Franco Pagani, Emanuele Buratti, Cristiana Stuani, Maurizio Romano, Elisabetta Zuccato, Martina Niksic, L. Giglio, D. Faraguna, Francisco E. Baralle   +8 more
openalex   +1 more source

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, Volume 108, Issue 5, Page 599-603, November 2025.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +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

Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis Bullosa

, 1995
Joëlle Vailly, Leena Pulkkinen, Angela M. Christiano, Karl Tryggvason, Jouni Uitto, Jean‐Paul Ortonne, Guerrino Meneguzzi   +6 more
openalex   +1 more source

Loss of SMN Impairs Osteoblast–Osteoclast Coupling via IGF1–Akt–OPG Axis in Spinal Muscular Atrophy

The FASEB Journal, Volume 39, Issue 20, 31 October 2025.
Loss of SMN impairs osteoblast–osteoclast coupling by disrupting the IGF1–Akt–OPG signaling axis, which leads to defective bone remodeling in spinal muscular atrophy. The graphical abstract highlights this molecular mechanism underlying skeletal pathology in SMA.
Taiyang Xiang, Zijie Zhou, Yaoyao Li, Yinxuan Suo, Jun Dai, Xiaoyan Shi, Xiaozhong Zhou, Lei Sheng   +7 more
wiley   +1 more source

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family [PDF]

, 2001
Mariapina Montera, Francesca Piaggio, Cristiana Marchese, Viviana Gismondi, Alessandro Stella, Nicoletta Resta, Liliana Varesco, Ginevra Guanti, Cristina Mareni   +8 more
openalex   +1 more source

Branchpoints as potential targets of exon-skipping therapies for genetic disorders. [PDF]

Mol Ther Nucleic Acids, 2023
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M.   +12 more
europepmc   +1 more source

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease

, 1999
Deborah Noack, Paul G. Heyworth, John T. Curnutte, Julie Rae, Andrew R. Cross   +4 more
openalex   +1 more source

The Contribution of Exon-Skipping Events on Chromosome 22 to Protein Coding Diversity [PDF]

, 2001
Yoshihide Hayashizaki, Vladimir N. Babenko, Peter Van Heusden, Cathal Seoighe, Janet Kelso   +4 more
openalex   +1 more source

Prime editing strategies to mediate exon skipping in DMD gene. [PDF]

Front Med (Lausanne), 2023
Happi Mbakam C, Roustant J, Rousseau J, Yameogo P, Lu Y, Bigot A, Mamchaoui K, Mouly V, Lamothe G, Tremblay JP.   +9 more
europepmc   +1 more source