ŁJ Sznajder, MS Swanson - International Journal of Molecular Sciences, 2019 - mdpi.com
Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …
A Jbara, KT Lin, C Stossel, Z Siegfried, H Shqerat… - Nature, 2023 - nature.com
Pancreatic ductal adenocarcinoma (PDA) is characterized by aggressive local invasion and metastatic spread, leading to high lethality. Although driver gene mutations during PDA …
SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than a million short tandem repeats (STRs). While studies of the pathologic consequences of …
JI Hamel - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …
BA Otero, K Poukalov, RP Hildebrandt, CA Thornton… - Cell reports, 2021 - cell.com
Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in skeletal muscle, heart, and central nervous system (CNS). CNS issues are debilitating and …
DL Shi, R Grifone - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
Embryonic myogenesis is a temporally and spatially regulated process that generates skeletal muscle of the trunk and limbs. During this process, mononucleated myoblasts …
BE Begg, M Jens, PY Wang, CM Minor… - Nature structural & …, 2020 - nature.com
The Rbfox family of splicing factors regulate alternative splicing during animal development and in disease, impacting thousands of exons in the maturing brain, heart and muscle …
L Arandel, M Matloka, AF Klein, F Rau… - Nature Biomedical …, 2022 - nature.com
Abstract Myotonic dystrophy type 1 (DM1) is an RNA-dominant disease whose pathogenesis stems from the functional loss of muscleblind-like RNA-binding proteins (RBPs), which …
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there are some important differences …