Results 121 to 130 of about 127,159 (238)
Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy
Acta Ophthalmologica, EarlyView.Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery +17 more
wiley +1 more source
Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II
, 2021 About Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type IIN/
Alves, Sandra +5 more
core
Clinical and molecular features of PRCD‐associated retinopathy
Acta Ophthalmologica, EarlyView.Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin +30 more
wiley +1 more source
Cancer Science, EarlyView.Figure 6 Comprehensive genomic profiling identified additional actionable alterations in a substantial proportion of patients with non‐squamous NSCLC despite previously identified driver alterations, with some findings leading to subsequent matched targeted therapies.
Yoshihiro Masui +15 more
wiley +1 more source
Exon-skipping therapy for Duchenne muscular dystrophy
Rinsho Shinkeigaku, 2011 Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin at the sarcolemma. Exon skipping by antisense oligonucleotides is a novel method to restore the reading frame of the mutated DMD gene, and rescue dystrophin expression. We recently reported that systemic delivery of Morpholino antisense oligonucleotides targeting exon 6 and 8 of the ...
openaire +2 more sources
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Neonatal Diamond‐Blackfan anemia with persistent neutropenia caused by an RPS15A variant
Pediatric Investigation, EarlyView.
Hong Zheng +5 more
wiley +1 more source
Clinical Genetics, EarlyView.A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo +23 more
wiley +1 more source
A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome
Diabetic Medicine, EarlyView.Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi +12 more
wiley +1 more source
Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants
The FEBS Journal, EarlyView.Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan +19 more
wiley +1 more source