Results 91 to 100 of about 188,307 (314)

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Image_2_Correlation Between Liver Stiffness and Diastolic Function, Left Ventricular Hypertrophy, and Right Cardiac Function in Patients With Ejection Fraction Preserved Heart Failure.PNG

, 2021
Junyi Zhang (290426), Mingzhu Xu (4239415), Tan Chen (571832), Yafeng Zhou (5506250)   +3 more
openalex   +2 more sources

Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation

Advanced NanoBiomed Research, EarlyView.
This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley   +1 more source

Long-term results of catheter ablation of atrial fibrillation in patients with a reduced left ventricular ejection fraction [PDF]

, 2022
A Baimbetov, Z H Tursunkhanov, A Jukenova, K Bizhanov, I Yakupova, N Bigeldiyev   +5 more
openalex   +1 more source

Transient left ventricular function deterioration after patent ductus arteriosus closure: A case series

SAGE Open Medical Case Reports
There is growing evidence of left ventricular decompensation following the closure of the patent ductus arteriosus, which most often happens early in the post-surgical time and improves on its own a few months after.
Mohammad Reza Sabri, Chehreh Mahdavi, Hamid Bigdelian, Ali Reza Ahmadi, Mehdi Ghaderian, Bahar Dehghan, Davood Ramezani Nezhad   +6 more
doaj   +1 more source

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source

Isolated Left Ventricular Noncompaction Presenting With Heart Failure With Reduced Ejection Fraction and Intrahospital Cardiac Arrest: A Case Report and Literature Review [PDF]

, 2022
Filipa Madalena F Gonçalves, Marta Vaz Batista, Ana Luísa Campos, Magda Costa, Jorge Cotter   +4 more
openalex   +1 more source

A cross-sectional study of factors influencing left ventricular myocardial work in peritoneal dialysis patients

Heliyon
Objectives: To evaluate myocardial work in peritoneal dialysis patients by pressure-strain loop. To analyze the factors influencing myocardial work in peritoneal dialysis patients with preserved ejection fraction.
Xiaozhi Deng, Zhuo Huang, Junyan Yu, Yating Liu, Fang Zhu, Wenhui Zhu   +5 more
doaj   +1 more source

Case‐Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease

Arthritis &Rheumatology, EarlyView.
Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc), with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to US Food and Drug Administration–approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of ILDs of other systemic autoimmune
Nina Goldman, Voon Ong, Christopher P. Denton   +2 more
wiley   +1 more source