Results 231 to 240 of about 240,839 (324)

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to
Mackenna E. Schouw, Claudia A. L. Ruivenkamp, Tamara T. Koopmann, Gijs W. E. Santen, Peter G. J. Nikkels, Karin van der Tuin   +5 more
wiley   +1 more source

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping. [PDF]

J Hum Genet
Shimizu N, Mashimo Y, Yokouchi H, Nishio Y, Sawai S, Ichikawa T, Ogi T, Baba T, Onouchi Y.   +8 more
europepmc   +1 more source

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa. [PDF]

Mol Ther Nucleic Acids, 2023
Schellens RTW, Broekman S, Peters T, Graave P, Malinar L, Venselaar H, Kremer H, De Vrieze E, Van Wijk E.   +8 more
europepmc   +1 more source

Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle [PDF]

, 2003
B L Gebski, C. J. Mann, Sue Fletcher, Steve D. Wilton   +3 more
openalex   +1 more source

Long‐Term Effects of Nusinersen Dosing Frequency on Adult Patients With Spinal Muscular Atrophy: Efficacy of a 6‐Month Dosing Interval

Brain and Behavior, Volume 15, Issue 5, May 2025.
ABSTRACT Objective Spinal muscular atrophy (SMA) is a genetic disease caused by the degeneration of spinal motor neurons due to a deficiency in survival motor neuron protein (SMN) protein, leading to progressive muscle atrophy and weakness. nusinersen, an antisense oligonucleotide that increases SMN protein expression, has shown effectiveness in both ...
Keita Takahashi, Hitaru Kishida, Misako Kunii, Yosuke Miyaji, Yuichi Higashiyama, Hiroshi Doi, Naohisa Ueda, Hideyuki Takeuchi, Fumiaki Tanaka   +8 more
wiley   +1 more source

Case Report: a novel variant in <i>WT1</i> leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping. [PDF]

Front Nephrol
Marquez J, O'Sullivan L, Squire AE, Ryan GL, Debiec KE, Amies Oelschlager AM, Adam MP.   +6 more
europepmc   +1 more source

Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models. [PDF]

Cells, 2023
Saoudi A, Fergus C, Gileadi T, Montanaro F, Morgan JE, Kelly VP, Tensorer T, Garcia L, Vaillend C, Muntoni F, Goyenvalle A.   +10 more
europepmc   +1 more source

Tissue Engineering and Regenerative Medicine: Perspectives and Challenges

MedComm, Volume 6, Issue 5, May 2025.
Tissue engineering and regenerative medicine. This review presents cell therapy, extracellular vesicle therapy, and tissue engineering in regenerative medicine, highlighting their key historical milestones, clinical applications, and current challenges.
Van T. Hoang, Quyen Thi Nguyen, Trang Thi Kieu Phan, Trang H. Pham, Nhung Thi Hong Dinh, Le Phuong Hoang Anh, Lan Thi Mai Dao, Van Dat Bui, Hong‐Nhung Dao, Duc Son Le, Anh Thi Lan Ngo, Quang‐Duong Le, Liem Nguyen Thanh   +12 more
wiley   +1 more source

30 Years Since the Proposal of Exon Skipping Therapy for Duchenne Muscular Dystrophy and the Future of Pseudoexon Skipping. [PDF]

Int J Mol Sci
Matsuo M.
europepmc   +1 more source

Prevention of early-onset cardiomyopathy in Dmd exon 52-54 deletion mice by CRISPR-Cas9-mediated exon skipping. [PDF]

Mol Ther Methods Clin Dev, 2023
Rok M, Wong TWY, Maino E, Ahmed A, Yang G, Hyatt E, Lindsay K, Fatehi S, Marks R, Delgado-Olguín P, Ivakine EA, Cohn RD.   +11 more
europepmc   +1 more source