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43 Possible Causes for 1, MYOFIBRILLOGENESIS, REGULATOR

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  • Paroxysmal Non-Kinesigenic Dyskinesia

    Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S)[ncbi.nlm.nih.gov] We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families.[ncbi.nlm.nih.gov] Title Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.[mrc-mbu.cam.ac.uk]

  • Episodic Ataxia

    Table 1.[ncbi.nlm.nih.gov] Impaired regulation of cerebral excitability is thought to play a role in the occurrence of these paroxysms, but the underlying mechanisms are poorly understood.[ncbi.nlm.nih.gov] Attacks typically start in infancy or early childhood and can be inherited in an autosomal dominant manner associated with mutations in the myofibrillogenesis (MR-1) gene.[epilepsydiagnosis.org]

  • Paroxysmal Dyskinesia

    Magnetic resonance imaging (MRI) showed new or enhancing lesions in thalamus ( n   1), mesencephalic tegmentum ( n   1), and cerebellar peduncles ( n   5).[ncbi.nlm.nih.gov] PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of[mayoclinic.pure.elsevier.com] الصفحة 583 - ... marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction[books.google.com]

  • Coxsackie Virus

    (HLA-DR3-DQ2 or HLA-DR4-DQ8) for type 1 diabetes.[ncbi.nlm.nih.gov] The results of miRNA profiling in rat pancreatic cells infection models revealed that rat rno-miR-466d was up-regulated in CVB infection.[ncbi.nlm.nih.gov] N-cadherin involvement in cardiac myocyte interaction and myofibrillogenesis. Dev. Biol. 162 , 9 -17.[doi.org]

  • Paroxysmal Kinesigenic Dyskinesia

    RESULTS: A total of 16 genetic variants including 4 in MR-1 gene, 8 in SLC2A1 gene, and 4 in CLCN1 gene were detected.[ncbi.nlm.nih.gov] Regulation of signaling pathways by PKC isozymes in prostate cancer cells. Transcriptional regulation of PKC isozymes in prostate cells.[med.upenn.edu] PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of[mayoclinic.pure.elsevier.com]

  • Myosin Storage Myopathy

    The E3 ubiquitin ligases Muscle RING-finger (MuRF) 1 and 3 are restricted to striated muscles and interact with sarcomeric proteins, but their function in maintenance of muscle[circ.ahajournals.org] […] of residues in the heptad repeat of the mutant myosin rods likely alters interactions that stabilize coiled-coil dimers and thick filaments, causing disruption in ordered myofibrillogenesis[ncbi.nlm.nih.gov] In addition, we identified serum amyloid A 1 as early marker protein to be specifically upregulated in muscle of CIM patients.[cordis.europa.eu]

  • Nemaline Myopathy

    Author information 1 Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, Zhejiang[ncbi.nlm.nih.gov] Little is known about the role of specific amino acids in Tm involved in the Ca 2 regulation of the thin filament.[jci.org] FEBS Lett. (2002) [ Pubmed ] Myofibrillogenesis in primary tissue cultures of adult human skeletal muscle: expression of desmin, titin, and nebulin.[wikigenes.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G

    Mariz Vainzof 1 Mayana Zatz 1 Maria Rita Passos-Bueno 1 1.[link.springer.com] Molecular pathology Defects of TCAP, which encodes a protein that regulates muscle assembly, cause limb-girdle muscular dystrophy type 2G.[medical-dictionary.thefreedictionary.com] Structural basis for activation of the titin kinase domain during myofibrillogenesis . Nature 395 , 863 –869 (1998). 25.[nature.com]

  • Cap Myopathy

    Lornage X 1, 2, 3, 4 , Malfatti E 5, 6, 7 , Chéraud C 1, 2, 3, 4 , Schneider R 1, 2, 3, 4, 8 , Biancalana V 1, 2, 3, 4, 9 , Cuisset JM 10 , Garibaldi M 6, 11, 12 , Eymard[ncbi.nlm.nih.gov] Tropomyosin proteins regulate muscle contraction by attaching to actin and controlling its binding to myosin.[ghr.nlm.nih.gov] These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis. (C) 2006 Elsevier B.V.[research-repository.uwa.edu.au]

  • Paroxysmal Exertion-Induced Dyskinesia

    Expert Opin Pharmacother. 2011; 12(1): 63–72. Suls A, Dedeken P, Goffin K, et al.[sanamed.rs] PKD has been linked to the pericentromeric region of chromosome 16, PNKD is associated with mutations in the myofibrillogenesis regulator 1 (MR-1) gene on the long arm of[mayoclinic.pure.elsevier.com] Additionally, a modified version of the Atkin's diet helped to regulate glucose levels in the CSF.[en.wikipedia.org]