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205 Possible Causes for Serca1, mouse, protein

Did you mean: Serca1, morus, proteus

  • Limb-Girdle Muscular Dystrophy

    LGMD1D mutations in DNAJB6a or DNAJB6b did not alter this localization in mouse muscle.[ncbi.nlm.nih.gov] Posterior Upper limbs: Mild changes Muscle Vacuoles: Round; Clear; Type 2B fibers; Surrounded by desmin Inclusions Plastic sections: Quadrangular or Rectangular Staining: SERCA1[neuromuscular.wustl.edu] KEYWORDS: LGMD2A; calpain-3; calpainopathy; genetic diagnosis; immunoblot analysis; limb girdle muscular dystrophy; mutation detection; protein testing[ncbi.nlm.nih.gov]

  • Fragile X-Associated Tremor - Ataxia Syndrome

    Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.[ncbi.nlm.nih.gov] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] Higher P:M, and lower ZnT6 and mature frataxin protein expression suggested defective zinc and iron metabolism arising from altered ZnT protein expression, which in turn impairs[ncbi.nlm.nih.gov]

  • Myotonic Dystrophy

    Here we show that a morpholino antisense oligonucleotide (AON) targeting the 3' splice site of ClC-1 exon 7a reversed the defect of ClC-1 alternative splicing in 2 mouse models[ncbi.nlm.nih.gov] […] of exon 22 of SERCA1.[doi.org] LPAC and QAGR proteins are toxic to cells independent of RNA gain of function.[ncbi.nlm.nih.gov]

  • Nemaline Myopathy

    Dixon MRI did not show discernable fatty infiltration in Tg(ACTA1)(Asp286Gly) mice indicating that this mouse model does not reproduce human MRI findings.[ncbi.nlm.nih.gov] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] protein, leiomodin 3 (LMOD3).[ncbi.nlm.nih.gov]

  • Becker Muscular Dystrophy

    In the mdx mouse model of dystrophinopathy, this protective mechanism (functional sympatholysis) is defective, resulting in functional muscle ischaemia.[ncbi.nlm.nih.gov] Chin , SERCA1 overexpression minimizes skeletal muscle damage in dystrophic mouse models , American Journal of Physiology-Cell Physiology , 308 , 9 , (C699) , (2015) .[doi.org] Those regenerating fibers did, however, have positive immunoreactivity to a dystrophin-related protein.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    Term Browser Genes (2) Models (3) Disease References using Mouse Models (5)[informatics.jax.org] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] Medical genetics and genomic medicine in India: current status and opportunities ahead Shagun Aggarwal,Shubha R Phadke Molecular Genetics & Genomic Medicine. 2015; 3(3): 160 5 Protein[neurologyindia.com]

  • Butterfly-Shaped Pigment Dystrophy

    Their collaboration revealed that the mouse model exhibits the same symptoms as the human patients, including pigmentary abnormalities, focal thickening, elevated lesions,[jax.org] […] myopathy-titinopathy Myofibrillar myopathy with early respiratory failure Myopathic intestinal pseudoobstruction Myopathy and diabetes mellitus Myopathy due to calsequestrin and SERCA1[orpha.net] Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains.[genecards.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

    Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos. Dev. Biol 123, 364-374. ‎ Seite 277 - K. (1999).[books.google.de] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] It has been studied in sarcoglycan null mouse models and found to slow heart and skeletal muscle degeneration.9 Enzyme replacement therapy is available for late-onset Pompe[now.aapmr.org]

  • Familial Congenital Mirror Movements 2

    […] from a mouse immunized with a recombination protein from human.[biossusa.com] […] of infancy Myoclonic-astastic epilepsy Myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-dystonia syndrome Myofibrillar myopathy Myopathy due to calsequestrin and SERCA1[se-atlas.de] Multiple protein interactions have been demonstrated for the mammalian Rad51 protein.[mskcc.org]

  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    Models phenotype-based associations Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram.[mousephenotype.org] Myofibromatose, infantile Myogene Arthrogryposis multiplex congenita, autosomal-rezessive Myopathie bei infektiösen und parasitären Krankheiten Myopathie durch Calsequestrin- und SERCA1[se-atlas.de] The CMD1A form is caused by a deficiency of the α2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis[journals.lww.com]