Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum. [PDF]
PLoS ONE, 2023 The Lamc2jeb junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong ...
Thomas J Sproule +9 more
doaj +11 more sources
The spectraplakin Dystonin antagonizes YAP activity and suppresses tumourigenesis [PDF]
Scientific Reports, 2019 Aberrant expression of the Spectraplakin Dystonin (DST) has been observed in various cancers, including those of the breast. However, little is known about its role in carcinogenesis.
PatrÃcia S Guerreiro +2 more
exaly +8 more sources
Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy [PDF]
eLife, 2022 Dystonin (DST), which encodes cytoskeletal linker proteins, expresses three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e.
Nozomu Yoshioka +10 more
doaj +5 more sources
Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice. [PDF]
PLoS ONE, 2023 Epidermolysis Bullosa (EB) is a group of rare genetic disorders that compromise the structural integrity of the skin such that blisters and subsequent erosions occur after minor trauma. While primary genetic risk of all subforms of EB adhere to Mendelian
Thomas J Sproule +4 more
doaj +2 more sources
In silico reconstructions underpin aberrant trafficking dynamics in deficient axons of Dst knockout and Dst/Nefl double-knockout mice [PDF]
Communications BiologyAberrant neuronal trafficking is a significant hallmark of neurodegenerative pathology. Its real-time evolution remains elusive and poorly defined due to the lack of a predictive spatiotemporal framework.
Zongmin Liu +7 more
doaj +2 more sources
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family [PDF]
Frontiers in Genetics, 2020 Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.
Jie-Yuan Jin +11 more
doaj +2 more sources
Evaluation of the Fecal Proteome in Healthy and Diseased Cheetahs (Acinonyx jubatus) Suffering from Gastrointestinal Disorders [PDF]
Animals, 2022 Fecal proteomics allows for the identification of proteins and peptides present in stools and is useful in finding possible new biomarkers for diagnosing and/or monitoring gastrointestinal (GI) disorders.
Sara Mangiaterra +8 more
doaj +2 more sources
Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6 [PDF]
Frontiers in Neural CircuitsHereditary sensory and autonomic neuropathies (HSANs) are a group of recessive genetic disorders affecting the sensory and autonomic components of the peripheral nervous system (PNS). Compared with somatosensory dysfunctions, the pathogenesis of visceral
Nozomu Yoshioka +13 more
doaj +2 more sources
Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in DST gene: first Italian case and literature review [PDF]
Dermatology ReportsEpidermolysis bullosa simplex (EBS), the most common type of EB, is characterized by skin fragility and blister formation within the basal epidermal layer. Most cases are due to autosomal dominant mutations in the keratin genes, KRT5 and KRT14. However,
Andrea Diociaiuti +4 more
doaj +2 more sources
Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies [PDF]
Acta Dermato-VenereologicaNathalie Pironon +4 more
doaj +2 more sources