Results 131 to 140 of about 29,161 (207)

From Mutation to Manifestation: Evaluation of a <i>PKLR</i> Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier. [PDF]

Animals (Basel)
Ma TY, Kuo CJ, Liu PC.
europepmc   +1 more source

Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. [PDF]

HGG Adv
Doss RM, Wirth SA, Pitsch JW, Dias CM, Gropman AL, Breuss MW.   +5 more
europepmc   +1 more source

CRISPR-directed exon skipping; friend or foe (opportunity or warning sign)? [PDF]

Mol Ther Nucleic Acids
Banas KH, Kmiec EB.
europepmc   +1 more source

Target choice and exon skipping regulate CRISPR-directed gene editing of NRF2 in head/neck and esophageal cancer cells. [PDF]

Mol Ther Oncol
Rivera-Torres N, Skelly LE, Rogowskyj JA, Aguilar G, Banas K, Bialk P, Kmiec EB.   +6 more
europepmc   +1 more source

PPMO-based exon skipping therapy improves respiratory function in the <i>mdx</i> mouse model of Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
Biswas DD, Rodriguez MYH, El Haddad L, Hoffmann G, Copson E, Mayman S, Jose J, Lang S, Chen O, Dela Pena A, Levin E, Abdelbarr M, Slyne A, ElMallah MK.   +13 more
europepmc   +1 more source

Targeting a pathogenic cryptic exon that drives HLRCC to induce exon skipping. [PDF]

Mol Ther Nucleic Acids
Maligireddy SS, Mandler MD, Lunger JC, Yuen M, Kulkarni S, Perez AR, Fitzsimmons CM, Crooks DR, Chari R, Linehan WM, Batista PJ.   +10 more
europepmc   +1 more source

Clinical applications of exon-skipping antisense oligonucleotides in neuromuscular diseases. [PDF]

Mol Ther
Torres-Masjoan L, Aguti S, Zhou H, Muntoni F.   +3 more
europepmc   +1 more source

Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy. [PDF]

J Neuromuscul Dis
Iff J, Desguerre I, Liu Y, Sarkozy F, Tuttle E, Muntoni F, McDonald CM, Nougues MC, Amthor H, Zhong Y, Wahbi K, Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study Investigators.   +11 more
europepmc   +1 more source

Severe Clinical Phenotype in Alport Syndrome Due to 2 <i>COL4A4</i> Exon-Skipping Events. [PDF]

Kidney Med
Pleško J, Kojc N, Kert Š, Petrin S, Matjašič A, Meglič A, Zupan A.   +6 more
europepmc   +1 more source

Coexistence of a primary ALK-positive and MET14 exon skipping mutation double-fusion in one patient with NSCLC and response to crizotinib: A case report and literature review. [PDF]

Medicine (Baltimore)
Xu K, Wang M, Zhao J, Xu X, Song M.
europepmc   +1 more source