Results 111 to 120 of about 30,223 (276)

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Marta Przymuszała, Marta Białobrzeska, Józef Dulak, Urszula Florczyk‐Soluch   +3 more
wiley   +1 more source

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype–Phenotype Correlation

International Journal of Dermatology, EarlyView.
Agathe Hercent, Adrien Borgel, Jerôme Lamoril, Florent Grange, Frédérique Carré‐Pigeon, Caroline Kannengiesser, Dimitri Tchernitchko   +6 more
wiley   +1 more source

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation

The Journal of Pathology, Volume 268, Issue 2, Page 150-163, February 2026.
Abstract Splicing dysregulation is a relevant mechanism of pathogenicity for variants in disease susceptibility genes. Variants affecting the critical intronic +1 and +2 GT nucleotides of the 5’ splice sites (5'ss) are generally strong indicators of pathogenicity.
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno‐Martínez, Alicia García‐Álvarez, Alberto Valenzuela‐Palomo, Pedro Pérez‐Segura, Miguel de la Hoya, Eladio A Velasco‐Sampedro   +7 more
wiley   +1 more source

In vivo effects on intron retention and exon skipping by the U2AF large subunit and SF1/BBP in the nematode Caenorhabditis elegans [PDF]

, 2011
Long Ma, Zhiping Tan, Yanling Teng, Sebastian Hoersch, H. Robert Horvitz   +4 more
openalex   +1 more source

Exon Skipping of Cathepsin B [PDF]

Journal of Biological Chemistry, 2004
Kathrin Müntener, Roman Zwicky, Gabor Csucs, Jack Rohrer, Antonio Baici   +4 more
openaire   +1 more source

Exon Skipping Approach to Duchenne Muscular Dystorphy

Rinsho Shinkeigaku, 2014
Exon skipping therapy by antisense oligonucleotide is a promising approach to Duchenne muscular dystrophy (DMD). We have reported the proof-of-concept studies using morpholino on mice or dog DMD model and on patient derived cells. Based on these results, we had promoted collaborative research with a Japanese pharmaceutical company and encouraged ...
openaire   +3 more sources

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

MO38-2 Post-marketing surveillance of tepotinib for non-small cell lung cancer with MET exon 14 skipping mutations – final report [PDF]

, 2023
Terufumi Kato, Tatsuya Ogura, Masashi Sato, Risa Kojima, Bingbing Song, Eisuke Horii, Kazuhiko Nakagawa   +6 more
openalex   +1 more source

MDM4 exon skipping upon dysfunctional ribosome assembly

Trends in Cell Biology
Recent studies revealed how nucleolar stress enhances MDM4 exon skipping and activates p53 via the ribosomal protein L22 (RPL22; eL22). Tumor-associated L22 mutations lead to full-length MDM4 synthesis, overcoming tumor suppression by p53. This forum article explores how MDM4 splicing patterns integrate stress signaling to take p53-dependent cell fate ...
Jennifer Jansen, Matthias Dobbelstein
openaire   +4 more sources

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source