[HTML][HTML] Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

M Ganassi, F Muntoni, PS Zammit - Experimental Cell Research, 2022 - Elsevier
Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …

Genetics of clubfoot; recent progress and future perspectives

S Basit, KI Khoshhal - European Journal of Medical Genetics, 2018 - Elsevier
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle
and foot. It results from structural defects of several tissues of foot and lower leg leading to …

Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy

EW Ottesen, NN Singh, D Luo, B Kaas… - Nucleic Acids …, 2023 - academic.oup.com
Designing an RNA-interacting molecule that displays high therapeutic efficacy while
retaining specificity within a broad concentration range remains a challenging task …

Excess synaptojanin 1 contributes to place cell dysfunction and memory deficits in the aging hippocampus in three types of Alzheimer's disease

AM Miranda, M Herman, R Cheng, E Nahmani… - Cell reports, 2018 - cell.com
The phosphoinositide phosphatase synaptojanin 1 (SYNJ1) is a key regulator of synaptic
function. We first tested whether SYNJ1 contributes to phenotypic variations in familial …

Predominant monomorphism of the RIT2 and GPM6B exceptionally long GA blocks in human and enriched divergent alleles in the disease compartment

S Khamse, M Arabfard, M Salesi, E Behmard… - Genetica, 2022 - Springer
Across human protein-coding genes, the human neuron-specific genes, RIT2 and GPM6B,
contain the two longest GA short tandem repeats (STRs) of 11 and 9-repeats, respectively …

Understanding the effects of the bovine POLLED variants

JE Aldersey, TS Sonstegard, JL Williams… - Animal …, 2020 - Wiley Online Library
Horns are paired appendages on the head of bovine species, comprising an inner bony
core and outer keratin sheath. The horn bud forms during early fetal development but …

[HTML][HTML] Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

RG Feichtinger, BE Mucha, H Hengel, Z Orfi… - Genetics in …, 2019 - Elsevier
Purpose Skeletal muscle growth and regeneration rely on muscle stem cells, called satellite
cells. Specific transcription factors, particularly PAX7, are key regulators of the function of …

Paxbp1 controls a key checkpoint for cell growth and survival during early activation of quiescent muscle satellite cells

S Zhou, L Han, M Weng, H Zhu… - Proceedings of the …, 2021 - National Acad Sciences
Adult mouse muscle satellite cells (MuSCs) are quiescent in uninjured muscles. Upon
muscle injury, MuSCs exit quiescence, reenter the cell cycle to proliferate and self-renew …

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

MA Albarry, JA Hashmi, AQ Alreheli… - Ophthalmic …, 2019 - Taylor & Francis
Background: Retinitis pigmentosa (RP) is a heterogeneous group of ocular dystrophy. It is
challenging to identify the underlying genetic defect in individuals with RP due to huge …

Paxbp1 is indispensable for the survival of CD4 and CD8 double-positive thymocytes

W Li, Y Yang, S Liu, D Zhang, X Ren, M Tang… - Frontiers in …, 2023 - frontiersin.org
The lifespan of double-positive (DP) thymocytes is critical for intrathymic development and
shaping the peripheral T cell repertoire. However, the molecular mechanisms that control …