[HTML][HTML] Splicing therapy for neuromuscular disease
AGL Douglas, MJA Wood - Molecular and Cellular Neuroscience, 2013 - Elsevier
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two of the
most common inherited neuromuscular diseases in humans. Both conditions are fatal and …
most common inherited neuromuscular diseases in humans. Both conditions are fatal and …
RNA splicing: disease and therapy
AGL Douglas, MJA Wood - Briefings in functional genomics, 2011 - academic.oup.com
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing
and mutations that affect splicing are more prevalent than previously thought. The …
and mutations that affect splicing are more prevalent than previously thought. The …
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent …
An expanded hexanucleotide repeat in a noncoding region of the C9orf72 gene is a major
cause of amyotrophic lateral sclerosis (ALS), accounting for up to 40% of familial cases and …
cause of amyotrophic lateral sclerosis (ALS), accounting for up to 40% of familial cases and …
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most
common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD) …
common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD) …
[HTML][HTML] Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of
uncertain significance (VUSs) identified through next-generation sequencing. Many such …
uncertain significance (VUSs) identified through next-generation sequencing. Many such …
RNA splicing analysis in genomic medicine
H Wai, AGL Douglas, D Baralle - The international journal of biochemistry & …, 2019 - Elsevier
High-throughput next-generation sequencing technologies have led to a rapid increase in
the number of sequence variants identified in clinical practice via diagnostic genetic tests …
the number of sequence variants identified in clinical practice via diagnostic genetic tests …
[HTML][HTML] Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
The structure of proline prevents it from adopting an optimal position for rapid protein
synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly …
synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly …
[HTML][HTML] Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
The development of computational methods to assess pathogenicity of pre-messenger RNA
splicing variants is critical for diagnosis of human disease. We assessed the capability of …
splicing variants is critical for diagnosis of human disease. We assessed the capability of …
[HTML][HTML] A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
AJM Blakes, HA Wai, I Davies, HE Moledina, A Ruiz… - Genome Medicine, 2022 - Springer
Background Genomic variants which disrupt splicing are a major cause of rare genetic
diseases. However, variants which lie outside of the canonical splice sites are difficult to …
diseases. However, variants which lie outside of the canonical splice sites are difficult to …
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
PJ Ostrowski, A Zachariou, C Loveday… - American Journal of …, 2019 - Wiley Online Library
CHD8 has been reported as an autism susceptibility/intellectual disability gene but
emerging evidence suggests that it additionally causes an overgrowth phenotype. This study …
emerging evidence suggests that it additionally causes an overgrowth phenotype. This study …