Results 61 to 70 of about 34,474,015 (115)

Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1.
Hideki Itoh, Takashi Hisamatsu, Takuhisa Tamura, Kazuhiko Segawa, Toshiaki Takahashi, Hiroto Takada, Satoshi Kuru, Chizu Wada, Mikiya Suzuki, Shugo Suwazono, Shingo Sasaki, Ken Okumura, Minoru Horie, Masanori P. Takahashi, Tsuyoshi Matumura   +14 more
doaj   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

From Pits to Plaques: Electron Microscopy Reveals Clathrin Structural Plasticity in Trafficking, Sorting and Adhesion

Traffic, Volume 27, Issue 3, September 2026.
Clathrin plaques (magenta) form large, flat membrane‐associated lattices embedded within the cortical actin cytoskeleton, and can be distinguished from individual clathrin‐coated pits (yellow). These structures are surrounded by a dense network of actin filaments and associated proteins, illustrating the intimate structural coupling between clathrin ...
Marion Benoist, Stéphane Vassilopoulos
wiley   +1 more source

Dysregulation of calcium metabolism in type 1 myotonic dystrophy

, 2019
BACKGROUND: Type 1 myotonic dystrophy (DM1) patients have a higher incidence of hypercalcemia compared to the general population. The nature and effects of dysregulated calcium metabolism underpinning this phenomenon have not been fully characterised ...
Richard V. Jackson, Ian A. Scott, Hlaing, Phyu M, Scott, Ian A, Jackson, Richard V, Phyu M. Hlaing   +5 more
core   +1 more source

Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1

Frontiers in Physiology, 2018
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with predominant myotonia and muscular dystrophy which is caused by CTG-repeat expansions in the DMPK gene. These repeat expansions are transcribed and the resulting mRNA accumulates RNA-binding
Stefan Hintze, Lisa Knaier, Sarah Limmer, Benedikt Schoser, Peter Meinke   +4 more
doaj   +1 more source

Piperine disrupts the OFF state of the resting thick filament of rat skeletal muscle, enhancing dynamic contractility in a fibre‐type‐dependent manner

The Journal of Physiology, Volume 604, Issue 18, Page 7739-7771, 15 September 2026.
Abstract figure legend We investigated the effects of piperine on (1) the structure of the resting thick filament and (2) dynamic contractility in fibres and intact slow (soleus) and fast (extensor digitorum longus, EDL) rat muscles, respectively. The structure of the resting thick filament was assessed pre‐ and post‐piperine incubation using small ...
Daniel Z. Kruse, Jon Herskind, Michel N. Kuehn, Annika J. Klotz, Anthony L. Hessel, Kristian Overgaard   +5 more
wiley   +1 more source

Clinically Suspected Myotonic Dystrophy in Sub‐Saharan Africa: A Rare Case Report Highlighting Rehabilitation Challenges

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Myotonic dystrophy is an autosomal dominant multisystem disorder rarely reported in sub‐Saharan Africa. We report a 30‐year‐old Ethiopian female with progressive weakness, myotonia, positive family history, and characteristic electromyography findings. As there is no curative treatment, management is supportive. This case highlights its rarity
Abraham Sisay Abie, Sisay Gizaw, Tesfaye Berhe, Behaylu Yibe, Tamrat Petros Elias   +4 more
wiley   +1 more source

Structural white matter networks in myotonic dystrophy type 1

NeuroImage: Clinical, 2019
The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level.
Maud van Dorst, Kees Okkersen, Roy P.C. Kessels, Frederick J.A. Meijer, Darren G. Monckton, Baziel G.M. van Engelen, Anil M. Tuladhar, Joost Raaphorst   +7 more
doaj   +1 more source

Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis

The Turkish Journal of Gastroenterology, 2018
Myotonic dystrophy (MD) frequently involves the gastrointestinal tract, where it can manifest as chronic intestinal pseudo-obstruction (CIPO), particularly in adults. This manifestation is quite uncommon in children.
Gloria Pelizzo, Valeria Calcaterra, Vincenzo Villanacci, Giovanni Battista Mura, Gabrio Bassotti   +4 more
doaj   +1 more source