Trepo - Selaus tekijän mukaan "Udd, Bjarne"
Viitteet 21-40 / 57
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Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy
(2014)
articleTibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations ... -
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity
(07.05.2024)
articleBackground and Objectives Description of 15 patients with the same variant in DOK7 causing congenital myasthenic syndrome (CMS).MethodsNine adult and 6 pediatric patients were studied with molecular genetic and clinical ... -
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
(02 / 2023)
articleChaperone-assisted selective autophagy (CASA) is a highly selective pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring the turnover of structural components ... -
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)
article<p>Using 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 ... -
Mitokondriaalinen resessiivinen ataksiasyndrooma ja valproaattihoidon toksisuus
(2010)
articleMitokondriaalinen resessiivinen ataksiasyndrooma (MIRAS) voi ilmetä lapsuus-, nuoruus- tai aikuisiällä. Tauti johtuu polymeraasi gamma -geenin mutaatioista. Oireisto vaihtelee lasten enkefaliitin tyyppisestä akuutista ... -
Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression
(12 / 2025)
articleBackground: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced ... -
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 compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
(2016)
articleAutosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ... -
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, ... -
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia
(05 / 2025)
articleBackground: This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods: Ten patients from seven families underwent clinical, neurophysiological, ... -
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
(09.10.2025)
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 ...
