Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution

M Dos Santos, AM Shah, Y Zhang… - Nature …, 2023 - nature.com
Skeletal muscle fibers express distinct gene programs during development and maturation,
but the underlying gene regulatory networks that confer stage-specific myofiber properties …

Practical Considerations for Single‐Cell Genomics

C Regan, J Preall - Current protocols, 2022 - Wiley Online Library
The single‐cell revolution in the field of genomics is in full bloom, with clever new molecular
biology tricks appearing regularly that allow researchers to explore new modalities or scale …

Functional specialisation and coordination of myonuclei

A Korb, S Tajbakhsh, GE Comai - Biological Reviews, 2024 - Wiley Online Library
Myofibres serve as the functional unit for locomotion, with the sarcomere as fundamental
subunit. Running the entire length of this structure are hundreds of myonuclei, located at the …

MME+ fibro-adipogenic progenitors are the dominant adipogenic population during fatty infiltration in human skeletal muscle

G Fitzgerald, G Turiel, T Gorski, I Soro-Arnaiz… - Communications …, 2023 - nature.com
Fatty infiltration, the ectopic deposition of adipose tissue within skeletal muscle, is mediated
via the adipogenic differentiation of fibro-adipogenic progenitors (FAPs). We used single …

Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis

B Ohkawara, M Kurokawa, A Kanai… - Journal of …, 2024 - Wiley Online Library
Skeletal muscle fiber is a large syncytium with multiple and evenly distributed nuclei. Adult
subsynaptic myonuclei beneath the neuromuscular junction (NMJ) express specific genes …

Targeting Duchenne muscular dystrophy by skipping DMD exon 45 with base editors

M Gapinske, J Winter, D Swami, L Gapinske… - … Therapy-Nucleic Acids, 2023 - cell.com
Duchenne muscular dystrophy is an X-linked monogenic disease caused by mutations in
the dystrophin gene (DMD) characterized by progressive muscle weakness, leading to loss …

MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells

S Perrin, S Protic, V Bretegnier, I Laurendeau… - Science Translational …, 2024 - science.org
Congenital pseudarthrosis of the tibia (CPT) is a severe pathology marked by spontaneous
bone fractures that fail to heal, leading to fibrous nonunion. Half of patients with CPT are …

[HTML][HTML] Epigenetic regulator RNF20 underlies temporal hierarchy of gene expression to regulate postnatal cardiomyocyte polarization

CY Lin, YM Chang, HY Tseng, YL Shih, HH Yeh… - Cell Reports, 2023 - cell.com
Differentiated cardiomyocytes (CMs) must undergo diverse morphological and functional
changes during postnatal development. However, the mechanisms underlying initiation and …

An optimized protocol for single nuclei isolation from clinical biopsies for RNA-seq

TV Rousselle, JM McDaniels, AC Shetty, E Bardhi… - Scientific Reports, 2022 - nature.com
Single nuclei RNA sequencing (snRNA-seq) has evolved as a powerful tool to study
complex human diseases. Single cell resolution enables the study of novel cell types …

Tumour‐induced alterations in single‐nucleus transcriptome of atrophying muscles indicate enhanced protein degradation and reduced oxidative metabolism

S Agca, A Domaniku‐Waraich, SN Bilgic… - Journal of Cachexia …, 2024 - Wiley Online Library
Background Tumour‐induced skeletal muscle wasting in the context of cancer cachexia is a
condition with profound implications for patient survival. The loss of muscle mass is a …