Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations in .

Inactivation of disease alleles by allele-specific editing is a promising approach to treat dominant-negative genetic disorders, provided the causative gene is haplo-sufficient. We previously edited a dominant missense mutation with inactivating frameshifts and rescued disease-relevant phenotypes in induced pluripotent stem cell (iPSC)-derived motor neurons. However, a multitude of different missense mutations cause disease.

Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6.

BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.

Unveiling Gaps in High School Strength and Conditioning: CSCS Certification, Coaching Leadership, and Facilities.

Judge, LW, Marsh, JP, Petersen, JC, Pearson, D, and Bellar, D. Unveiling gaps in high school strength and conditioning: CSCS certification, coaching leadership and facilities. J Strength Cond Res 38(12): 2088-2098, 2024-The aim of this study was to examine the prevalence of Certified Strength and Conditioning Specialist (CSCS) and/or dedicated strength coaches overseeing strength and conditioning facilities (SCFs) at the high school level in a Southwestern state.

Preventing Exertional Heat Stroke in Football: Time for a Paradigm Shift.

Context: Among American sports, football has the highest incidence of exertional heat stroke (EHS), despite decades of prevention strategies. Based on recent reports, 100% of high school and college EHS football fatalities occur during conditioning sessions. Linemen are the at-risk population, constituting 97% of football EHS deaths.