A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
The potential of CRISPR/Cas9 gene editing as a treatment strategy for inherited diseases
SA Abdelnour, L Xie, AA Hassanin, E Zuo… - Frontiers in cell and …, 2021 - frontiersin.org
Clustered regularly interspaced short palindromic repeats (CRISPR) is a promising
innovative technology for genomic editing that offers scientists the chance to edit DNA …
innovative technology for genomic editing that offers scientists the chance to edit DNA …
[HTML][HTML] Identification of required host factors for SARS-CoV-2 infection in human cells
To better understand host-virus genetic dependencies and find potential therapeutic targets
for COVID-19, we performed a genome-scale CRISPR loss-of-function screen to identify …
for COVID-19, we performed a genome-scale CRISPR loss-of-function screen to identify …
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases
The progression of proteinuric kidney diseases is associated with podocyte loss, but the
mechanisms underlying this process remain unclear. Podocytes reenter the cell cycle to …
mechanisms underlying this process remain unclear. Podocytes reenter the cell cycle to …
[HTML][HTML] p38 MAPKs—roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets
CM Brennan, CP Emerson Jr, J Owens, N Christoforou - JCI insight, 2021 - ncbi.nlm.nih.gov
Abstract p38 MAPKs play a central role in orchestrating the cellular response to stress and
inflammation and in the regulation of myogenesis. Potent inhibitors of p38 MAPKs have …
inflammation and in the regulation of myogenesis. Potent inhibitors of p38 MAPKs have …
Facioscapulohumeral muscular dystrophy: the road to targeted therapies
MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …
[HTML][HTML] Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic …
P Heher, M Ganassi, A Weidinger, EN Engquist… - Redox biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal
muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …
muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …
Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7
CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
DUX4 role in normal physiology and in FSHD muscular dystrophy
E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …
has gone from being an obscure entity to being a key factor in important physiological and …
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update
T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …
does not exist currently, recent advances in complex molecular pathophysiology studies of …