Results 21 to 30 of about 10,028,553 (168)

Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy [PDF]

BMC Cardiovascular Disorders
CryAB, known as Alpha-B Crystallin, has also been shown to bind and increase the unfolding force of the filamentous protein. Mutation of CryAB at R120G causes serious cardiomyopathy but lacks ideal therapeutic drugs.
Jiaqi Zheng, Yuyang Liu, Jie Wang, Jiajia Hu, Wei Qiu, Ming Su   +5 more
doaj   +2 more sources

Machine learning-based predictive models and subtypes patterns in peripheral blood of schizophrenia based on a machine learning computational framework [PDF]

Schizophrenia
Schizophrenia (SCZ) is a complex psychiatric disorder, and its pathogenic mechanisms are not yet fully understood. The identification of reliable blood biomarkers and molecular subtypes for early diagnosis and effective therapy remains a significant ...
Zhijun Li, Qing Sun, Haoyu Li, Naiyu Guan, Jing Ni, Jing Wang, Xiaolei Xu, Ye Shen, Siyu Sun, Yan Li   +9 more
doaj   +2 more sources

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report [PDF]

Journal of Medical Case Reports
Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney   +6 more
doaj   +2 more sources

Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration. [PDF]

Mol Ecol
ABSTRACT Chromosomal inversion polymorphisms have been linked to the evolution of phenotypic variation, environmental adaptation, and speciation. The genome of the white‐throated sparrow (Zonotrichia albicollis) contains two exceptionally large chromosomal polymorphisms.
Baran NM, Jeong H, Maney DL, Yi SV.
europepmc   +2 more sources

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1. [PDF]

Neuropathol Appl Neurobiol
DM1 myoblasts show mild defects, but RNA toxicity intensifies upon differentiation, where broad gene‐expression changes and escalating MBNL1‐driven splicing defects disrupt muscle‐specific pathways, underscoring a key vulnerability at the transition from myogenic precursor cells to myofibres in patients. ABSTRACT Aims Myotonic dystrophy type 1 (DM1) is
Ripken L, van den Broek WJAA, van Cruchten RTP, Smits JGA, Riepe TV, 't Hoen PAC, Wansink DG.   +6 more
europepmc   +2 more sources

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Frontiers in Neurology, 2022
Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac ...
Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay   +7 more
doaj   +1 more source

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1). [PDF]

ChemMedChem
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Richagneux C, Granzhan A.
europepmc   +2 more sources

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. [PDF]

PLoS ONE, 2013
Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1).
Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová   +9 more
doaj   +1 more source

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Frontiers in Pediatrics, 2021
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li   +4 more
doaj   +1 more source