"Savarese, Marco" - Selaus tekijän mukaan TUNICRIS-julkaisut
Viitteet 1-20 / 21
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Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
(2022)
articleObjective: Mutations in the prion-like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ... -
Autosomal dominant tibial muscular dystrophy in Estonia
(05.12.2025)
articleAim: Tibial muscular dystrophy (TMD; MIM#600334, ORPHA:609) is an adult-onset, slowly progressive distal myopathy resulting from dominant variants in exon 364 of the TTN gene. The Finnish founder variant (FINmaj), characterized ... -
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
(20.11.2026)
articlePURPOSE: Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% of the population carrying a rare TTN variant and over 60 million ... -
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
(2022)
articleObjective: Inclusion body myositis (IBM) has an unclear molecular etiology exhibiting both characteristic inflammatory T-cell activity and rimmed-vacuolar degeneration of muscle fibers. Using in-depth gene expression and ... -
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies
(10 / 2025)
articleBackground and Purpose: Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding ... -
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
(03 / 2024)
articleIn digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ... -
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene
(2021)
articleBackground and Objectives To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3). Methods Continued clinical evaluation ... -
Extension of the DNAJB2a isoform in a dominant neuromyopathy family
(2023)
articleRecessive mutations in the DNAJB2 gene, encoding the J-domain co-chaperones DNAJB2a and DNAJB2b, have previously been reported as the genetic cause of progressive peripheral neuropathies, rarely involving pyramidal signs, ... -
Inferring disease course from differential exon usage in the wide titinopathy spectrum
(2024)
articleObjective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular ... -
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
(2020)
articleHuman genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput ... -
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
(2021)
articleUsing deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified ... -
Myotilin gene duplication causing late-onset myotilinopathy
(01 / 2025)
articleBackground: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk ... -
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe
(11 / 2025)
articleBackground: Titin, the largest human protein, is essential for sarcomere structure and function. The TTN gene, spanning 364 exons, undergoes extensive alternative splicing thus producing multiple isoforms. The M-band region, ... -
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
(2025)
articleBackground: Highly expressed in skeletal muscles, the gene Obscurin (i.e. OBSCN) has 121 non-overlapping exons and codes for some of the largest known mRNAs in the human genome. Furthermore, it plays an essential role in ... -
Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel
(09.12.2025)
articleOptimizing in vitro differentiation protocols for skeletal muscle cells is essential for producing mature, functional myotubes suitable for disease modeling and therapeutic screening. While C2C12 murine myoblasts are a ... -
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy
(02 / 2026)
articleBackground: Axial myopathies present with late onset selective paravertebral weakness causing bent spine/camptocormia or dropped head, and the genetic basis remains currently only partially understood. Truncating variants ... -
Panorama of the distal myopathies
(2020)
articleDistal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower ... -
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
(09 / 2024)
articleObjective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers ... -
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
(2024)
articleMyopathy refers to a large group of heterogeneous, rare muscle diseases. Bulk RNA-sequencing has been utilized for the diagnosis and research of these diseases for many years. However, the existing valuable sequencing data ...
