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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament...
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Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
BackgroundInherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the...
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Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
BackgroundNemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle...
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The mechanisms and therapeutic potential of long noncoding RNA NEAT1 in fibrosis
Fibrosis is the excess deposition of extracellular matrix involved in the pathogenesis of chronic diseases and finally leads to the disruption of...
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Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan
BackgroundConsidering the involvement of genetics in migraine pathogenesis in diverse ethnic populations, genome-wide association studies (GWAS) are...
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LIM and SH3 protein 1 (LASP1) differentiates malignant chordomas from less malignant chondrosarcomas
PurposeChordomas are malignant tumors that develop along the neuraxis between skull-base and sacrum. Chondrosarcomas show similarities with...
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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel
BackgroundBrugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”,...
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Sporadic Late-Onset Nemaline Myopathy: Current Landscape
Purpose of ReviewSporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal...
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Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy
BackgroundPatients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and...
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RNA-binding proteins in cardiovascular biology and disease: the beat goes on
Cardiac development and function are becoming increasingly well understood from different angles, including signalling, transcriptional and...
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Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis
Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic foundations is crucial for their diagnosis and treatment....
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Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
BackgroundHomozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle...
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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
BackgroundArthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal...
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Association between single nucleotide variants and severe chronic pain in older adult patients after lower extremity arthroplasty
BackgroundHip or knee osteoarthritis (OA) is one of the main causes of disability worldwide and occurs mostly in the older adults. Total hip or knee...
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Filamin C in cardiomyopathy: from physiological roles to DNA variants
Cardiomyopathy affects approximately 1 in 500 adults and is the leading cause of death. Familial cases are common, and mutations in many genes are...
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The Conundrum of Psoriatic Arthritis: a Pathogenetic and Clinical Pattern at the Midpoint of Autoinflammation and Autoimmunity
Psoriatic arthritis (PsA) is a chronic inflammatory condition characterized by psoriasis, synovitis, enthesitis, spondylitis, and the possible...
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The roles of long noncoding RNA NEAT1 in cardiovascular diseases
The morbidity of cardiovascular diseases (CVDs) gradually increases worldwide. Long noncoding RNAs (lncRNAs) are a large class of...
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Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure
Heart failure is a global health burden responsible for high morbidity and mortality with a prevalence of greater than 60 million individuals...
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Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning
BackgroundThe diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be challenging in patients not displaying the classical phenotype or...
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Screening of sperm antigen epitopes by phage display technique and its preliminary clinical application
BackgroundAt present, there is a lack of standardized preparation methods of sperm antigen for the detection of antisperm antibody (AsAb). To screen...
