Results 91 to 100 of about 30,223 (276)
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 +3 more
doaj +1 more source
Cancer Science, EarlyView.As the breakthrough bispecific antibody targeting EGFR and c‐Met, EMB‐01 drives potent anti‐tumor efficacy by co‐degradation of both receptors. ABSTRACT The bispecific antibody EMB‐01 (bafisontamab), constructed using EpimAb's proprietary FIT‐Ig platform, is designed to simultaneously target epidermal growth factor receptor (EGFR) and receptor tyrosine
Jing Gao +9 more
wiley +1 more source
Clinical Genetics, EarlyView.RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson +11 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang +8 more
doaj +1 more source
Clinical Genetics, EarlyView.A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib +6 more
wiley +1 more source
Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase [PDF]
, 2003 Karin Leitner +10 more
openalex +1 more source
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Molecular Therapy - Nucleic Acids, 2014 Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
Greer, K.L. +4 more
openaire +3 more sources
Immunology, EarlyView.A constant rate of DNA damage that is not perfectly repaired will cause a constant rate of DNA mutations. The chance of mutation will increase if DNA is prone to damage, such as occurs in somatic hypermutation (SHM) hotspots and GC‐rich DNA. Thus, if one mutation‐prone DNA site drives disease, the age of onset of disease and degree of penetrance should
Piet C. de Groen
wiley +1 more source
Transgene‐Free, Gene‐Edited Cavendish Bananas (Musa acuminata, AAA)
Plant Biotechnology Journal, EarlyView.ABSTRACT Global consumer acceptance of gene‐edited food crops is increasing with new breeding technologies that can modify the genome without foreign DNA integration. Here, we report an Agrobacterium‐based system for transgene‐free, gene editing of the banana cultivar, Cavendish.
Maiko Kato +6 more
wiley +1 more source