Results 191 to 200 of about 240,839 (324)

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

CRISPR-Cas9-mediated exon skipping as a cardioprotective strategy in Duchenne muscular dystrophy. [PDF]

Mol Ther Methods Clin Dev, 2023
Wilton-Clark H, Yokota T.
europepmc   +1 more source

Circular RNAs from transcripts of the rat cytochrome P450 2C24 gene: correlation with exon skipping.

, 1996
Peter G. Zaphiropoulos
openalex   +1 more source

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

Veterinary and Comparative Oncology, EarlyView.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli, Eugenio Mazzone, Diana Giannuzzi, Laura Marconato, Luca Aresu   +4 more
wiley   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj  

Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1. [PDF]

Mol Ther Nucleic Acids, 2023
Shiba N, Yang X, Sato M, Kadota S, Suzuki Y, Agata M, Nagamine K, Izumi M, Honda Y, Koganehira T, Kobayashi H, Ichimura H, Chuma S, Nakai J, Tohyama S, Fukuda K, Miyazaki D, Nakamura A, Shiba Y.   +18 more
europepmc   +1 more source

Pathological exon skipping in an HNPCC proband withMLH1 splice acceptor site mutation [PDF]

, 2000
Luka A. Clarke, Isabel Veiga, Glória Isidro, Peter Jordan, Jos� Silva Ramos, Sérgio Castedo, Maria Guida Boavida   +6 more
openalex   +1 more source

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease

The Journal of Physiology, EarlyView.
Abstract figure legend Our results demonstrate a diastolic dysfunction in animals with severe kidney disease. Moreover, chronic kidney disease (CKD)‐induced heart fibrosis and hypertrophy are associated with a dysregulation of cardiokine signalling in autosomal recessive polycystic kidney disease (ARPKD) animals. Created using BioRender.com.
Nathalie Gayrard, Maëlle Plawecki, Céline Lauret, Marc Fila, Pierre Sicard, Flore Duranton, Juliana H. Boukhaled, Irene Cortijo‐Tejero, Manuela Lotierzo, Bernard Jover, Jean‐Paul Cristol, Fabrice Raynaud   +11 more
wiley   +1 more source

Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin. [PDF]

Biomol Ther (Seoul), 2023
Kim JY, Han SY, Sung K, Seo JY, Myung CH, Jo CS, Yoon JH, Park JY, Hwang JS.   +8 more
europepmc   +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