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Journal articles on the topic 'SGCIE'

Author: Grafiati

Published: 4 June 2021

Last updated: 18 February 2022

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1

Kutschenko, Anna, Selma Staege, Karen Grütz, et al. "Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons." International Journal of Molecular Sciences 22, no. 7 (2021): 3565. http://dx.doi.org/10.3390/ijms22073565.

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Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the SGCE gene encoding ε-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic pathway and impaired striatal plasticity. To elucidate underlying pathogenic mechanisms, we investigated induced pluripotent stem cell (iPSC)-derived striatal medium spiny neurons (MSNs) from two myoclonus-dystonia patients carrying a heterozygous mutation in the SGCE gene (c.298T>G and c.304C>

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2

Gasser, T., and F. Asmus. "Genetik und molekulare Pathogenese der Myoklonus-Dystonie." Nervenheilkunde 23, no. 02 (2004): 99–103. http://dx.doi.org/10.1055/s-0038-1626285.

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ZusammenfassungMyoklonus-Dystonie (M-D, DYT11) zählt zu den »Dystonie-Plus-Syndromen«. Patienten zeigen neben fokalen oder segmentalen Dystonien, die sich meist als Schreibkrampf oder zervikale Dystonie manifestieren, v. a. kurz andauernde, »blitzartige« Myoklonien mit Betonung an Hals und oberen Extremitäten. Alkohol bessert die Bewegungsstörung in sehr vielen Fällen drastisch. Heterozygote Mutationen im ɛ-Sarkoglykangen (SGCE) kosegregieren mit der Erkrankung in Familien mit Myoklonus- Dystonie. Dabei handelt es sich in der überwiegenden Mehrzahl um Nonsense- oder Spleißstellenmutationen, di

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3

Piras, Graziella, Aboubaker El Kharroubi, Serguei Kozlov та ін. "Zac1 (Lot1), a Potential Tumor Suppressor Gene, and the Gene for ɛ-Sarcoglycan Are Maternally Imprinted Genes: Identification by a Subtractive Screen of Novel Uniparental Fibroblast Lines". Molecular and Cellular Biology 20, № 9 (2000): 3308–15. http://dx.doi.org/10.1128/mcb.20.9.3308-3315.2000.

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ABSTRACT Imprinted genes are expressed from one allele according to their parent of origin, and many are essential to mammalian embryogenesis. Here we show that the ɛ-sarcoglycan gene (Sgce) andZac1 (Lot1) are both paternally expressed imprinted genes. They were identified in a subtractive screen for imprinted genes using a cDNA library made from novel parthenogenetic and wild-type fibroblast lines. Sgce is a component of the dystrophin-sarcoglycan complex, Zac1 is a nuclear protein inducing growth arrest and/or apoptosis, and Zac1 is a potential tumor suppressor gene. Sgce and Zac1 are expres

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4

Ahn, Jinsoo, In-Sul Hwang, Mi-Ryung Park, In-Cheol Cho, Seongsoo Hwang, and Kichoon Lee. "The Landscape of Genomic Imprinting at the Porcine SGCE/PEG10 Locus from Methylome and Transcriptome of Parthenogenetic Embryos." G3: Genes|Genomes|Genetics 10, no. 11 (2020): 4037–47. http://dx.doi.org/10.1534/g3.120.401425.

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In mammals, imprinted genes often exist in the form of clusters in specific chromosome regions. However, in pigs, genomic imprinting of a relatively few genes and clusters has been identified, and genes within or adjacent to putative imprinted clusters need to be investigated including those at the SGCE/PEG10 locus. The objective of this study was to, using porcine parthenogenetic embryos, investigate imprinting status of genes within the genomic region spans between the COL1A2 and ASB4 genes in chromosome 9. Whole-genome bisulfite sequencing (WGBS) and RNA sequencing (RNA-seq) were conducted

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5

Mishra, Varsha, and Rachna Sehgal. "Hereditary myoclonus dystonia - rare entity diagnosed in younger children: report of a sporadic case with atypical features." International Journal of Contemporary Pediatrics 7, no. 1 (2019): 209. http://dx.doi.org/10.18203/2349-3291.ijcp20195755.

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Hereditary myoclonus dystonia is a rare movement disorder characterized with combination of myoclonic jerks with mild to moderate dystonia. Mostly caused due to changes in SGCE gene. Author report case of a 3 years old girl with atypical features of lower limb onset, mild dystonia, upper limb and neck myoclonic jerks and younger onset. She was detected to have pathogenic variant of SGCE gene. A diagnosis of myoclonus dystonia should be considered at an early age also like in our case so that treatment is initiated early for better results and improved quality of life and development.

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6

Wictorin, Klas, and Andreas Puschmann. "Myoclonus-dystonia (DYT11, DYT-SGCE) — a channelopathy?" Neurologia i Neurochirurgia Polska 54, no. 1 (2020): 3–5. http://dx.doi.org/10.5603/pjnns.a2020.0013.

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7

LeDoux, Mark S. "Population Prevalence of Deleterious SGCE Variants." Tremor and Other Hyperkinetic Movements 10 (November 4, 2020): 50. http://dx.doi.org/10.5334/tohm.567.

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8

Chawla, Geetanjali, Chia-Ho Lin, Areum Han, Lily Shiue, Manuel Ares, and Douglas L. Black. "Sam68 Regulates a Set of Alternatively Spliced Exons during Neurogenesis." Molecular and Cellular Biology 29, no. 1 (2008): 201–13. http://dx.doi.org/10.1128/mcb.01349-08.

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ABSTRACT Sam68 (Src-associated in mitosis, 68 kDa) is a KH domain RNA binding protein implicated in a variety of cellular processes, including alternative pre-mRNA splicing, but its functions are not well understood. Using RNA interference knockdown of Sam68 expression and splicing-sensitive microarrays, we identified a set of alternative exons whose splicing depends on Sam68. Detailed analysis of one newly identified target exon in epsilon sarcoglycan (Sgce) showed that both RNA elements distributed across the adjacent introns and the RNA binding activity of Sam68 are necessary to repress the

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9

Zhang, Jiajun, and Tianshou Zhou. "Markovian approaches to modeling intracellular reaction processes with molecular memory." Proceedings of the National Academy of Sciences 116, no. 47 (2019): 23542–50. http://dx.doi.org/10.1073/pnas.1913926116.

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Many cellular processes are governed by stochastic reaction events. These events do not necessarily occur in single steps of individual molecules, and, conversely, each birth or death of a macromolecule (e.g., protein) could involve several small reaction steps, creating a memory between individual events and thus leading to nonmarkovian reaction kinetics. Characterizing this kinetics is challenging. Here, we develop a systematic approach for a general reaction network with arbitrary intrinsic waiting-time distributions, which includes the stationary generalized chemical-master equation (sgCME

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10

Huang, Chia-Ling, Min-Yu Lan, Yung-Yee Chang, et al. "Large SGCE deletion contributes to Taiwanese myoclonus–dystonia syndrome." Parkinsonism & Related Disorders 16, no. 9 (2010): 585–89. http://dx.doi.org/10.1016/j.parkreldis.2010.06.016.

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11

Vanegas, Maria I., Anna Marcé-Grau, Laura Martí-Sánchez, et al. "Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome." Parkinsonism & Related Disorders 80 (November 2020): 165–74. http://dx.doi.org/10.1016/j.parkreldis.2020.09.023.

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12

Peall, Kathryn J., Daniel J. Smith, Manju A. Kurian, et al. "SGCE mutations cause psychiatric disorders: clinical and genetic characterization." Brain 136, no. 1 (2013): 294–303. http://dx.doi.org/10.1093/brain/aws308.

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13

Zhao, Lina, Ting Qiu, Dewei Jiang, et al. "SGCE Promotes Breast Cancer Stem Cells by Stabilizing EGFR." Advanced Science 7, no. 14 (2020): 1903700. http://dx.doi.org/10.1002/advs.201903700.

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14

Peall, Kathryn J., Joke M. Dijk, Rachel Saunders‐Pullman, et al. "Psychiatric disorders, myoclonus dystonia and SGCE : an international study." Annals of Clinical and Translational Neurology 3, no. 1 (2015): 4–11. http://dx.doi.org/10.1002/acn3.263.

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15

Roze, E., E. Apartis, F. Clot, et al. "Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations." Neurology 70, no. 13 (2008): 1010–16. http://dx.doi.org/10.1212/01.wnl.0000297516.98574.c0.

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16

Gutiérrez Pérez, Ángel Alonso, Ernesto Lleras, and Julia Díaz. "Comunidades de Aprendizaje como apoyo a un Sistema de Gestión del Conocimiento y la Innovación. Un estudio de Caso." International Journal of Engineering, Social Justice, and Peace 6, no. 1 (2019): 7–25. http://dx.doi.org/10.24908/ijesjp.v6i1.12675.

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En el este artículo presentamos un estudio de caso donde se usa el enfoque de Comunidades de Aprendizaje (CA) para propiciar un espacio de innovación dentro de una organización. En el caso se busca fortalecer el Sistema de Gestión del Conocimiento y la Innovación (SGCI) de una empresa de servicios públicos, estableciendo relaciones de aprendizaje entre los trabajadores. Es estas relaciones de aprendizaje las personas asumen roles diferenciados (de mentores o aprendices) y pueden desarrollar capacidades que les permiten proponer nuevas prácticas a la empresa.

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17

Koide, Noriko, Sumito Dateki, Kiyoko Watanabe, and Hiroyuki Moriuchi. "Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia." Pediatrics International 59, no. 9 (2017): 1018–20. http://dx.doi.org/10.1111/ped.13335.

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18

Salamon, András, Dénes Zádori, Emese Horváth, László Vécsei, and Péter Klivényi. "Zonisamidkezelés myoclonusdystoniában." Orvosi Hetilap 160, no. 34 (2019): 1353–57. http://dx.doi.org/10.1556/650.2019.31472.

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Abstract: Myoclonus-dystonia (DYT11) is a rare, autosomal dominant hereditary disorder clinically characterized by myoclonus and/or dystonia. The disease is most commonly caused by the mutations of the SGCE gene. Causative therapy is not available currently. Regarding symptomatic treatment, zonisamide, insulin therapy, carbamazepine and zolpidem may be utilized. If these drugs are not effective, bilateral globus pallidus internus deep brain stimulation may come into consideration. The aim of this study is to demonstrate the efficacy of zonisamide treatment in a Hungarian patient with genetical

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19

Rachad, Laila, Hicham El Otmani, Adnane Karkar, Bouchra El Moutawakil, Nadia El Kadmiri, and Sellama Nadifi. "Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome." Neuroscience Letters 703 (June 2019): 1–4. http://dx.doi.org/10.1016/j.neulet.2019.03.003.

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20

Hess, C. W., D. Raymond, P. d. C. Aguiar, et al. "Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers." Neurology 68, no. 7 (2007): 522–24. http://dx.doi.org/10.1212/01.wnl.0000253188.76092.06.

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21

Delgado-Alvarado, Manuel, Antoni Matilla-Dueñas, Antonio Altadill-Bermejo, et al. "A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability." Neurological Sciences 41, no. 12 (2020): 3779–81. http://dx.doi.org/10.1007/s10072-020-04718-6.

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22

Rachad, Laila, Hicham El Otmani, and Sellama Nadifi. "Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome." IBRO Reports 6 (September 2019): S483—S484. http://dx.doi.org/10.1016/j.ibror.2019.07.1519.

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23

Kurtis, Monica M., Marta San Luciano, Qiping Yu, et al. "Clinical and neurophysiological improvement of SGCE myoclonus–dystonia with GPi deep brain stimulation." Clinical Neurology and Neurosurgery 112, no. 2 (2010): 149–52. http://dx.doi.org/10.1016/j.clineuro.2009.10.001.

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24

Bonello, M., A. J. Larner, and S. H. Alusi. "Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder." Journal of the Neurological Sciences 346, no. 1-2 (2014): 356–57. http://dx.doi.org/10.1016/j.jns.2014.08.043.

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25

Ritz, Katja, Barbera DC van Schaik, Marja E. Jakobs, et al. "SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?" European Journal of Human Genetics 19, no. 4 (2010): 438–44. http://dx.doi.org/10.1038/ejhg.2010.206.

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26

Wong, Sui H., Malcolm J. Steiger, Andrew J. Larner, and Nicholas A. Fletcher. "Hereditary myoclonus dystonia (DYT11): A novel SGCE gene mutation with intrafamilial phenotypic heterogeneity." Movement Disorders 25, no. 7 (2010): 956–57. http://dx.doi.org/10.1002/mds.23037.

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27

De Carvalho Aguiar, Patricia, Melissa Fazzari, Joseph Jankovic, and Laurie J. Ozelius. "Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder." Movement Disorders 19, no. 10 (2004): 1237–38. http://dx.doi.org/10.1002/mds.20156.

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28

Grabowski, Monika, Alexander Zimprich, Bettina Lorenz-Depiereux, et al. "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted." European Journal of Human Genetics 11, no. 2 (2003): 138–44. http://dx.doi.org/10.1038/sj.ejhg.5200938.

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29

Peall, Kathryn J., Manju A. Kurian, Mark Wardle, et al. "SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype." Journal of Neurology 261, no. 12 (2014): 2296–304. http://dx.doi.org/10.1007/s00415-014-7488-3.

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30

Masuku, Mzenzi S., O. I. Oloyede, and Victoria L. Kelly. "TEACHERS’ USE OF INFORMAL FORMATIVE ASSESSMENT IN SENIOR SECONDARY SCHOOL CHEMISTRY CLASSROOMS IN SWAZILAND." International Journal of Research -GRANTHAALAYAH 7, no. 1 (2019): 348–60. http://dx.doi.org/10.29121/granthaalayah.v7.i1.2019.1062.

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The social-economic role of education as a major driver of human development calls for quality education that is rooted on effective teaching and learning. While Swaziland aspires to have products of her secondary education system efficiently joining tertiary training or the workplace, the SGCSE performance trend in Physical Science currently features below expectation. This study explored how teachers in Swaziland used informal formative assessment in their senior secondary school Chemistry lessons. Three purposively sampled lessons from Form 4 and Form 5 were observed. Data were collected th

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31

Yokoi, Fumiaki, Guang Yang, JinDong Li, Mark P. DeAndrade, Tong Zhou, and Yuqing Li. "Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce." Journal of Biochemistry 148, no. 4 (2010): 459–66. http://dx.doi.org/10.1093/jb/mvq078.

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32

Coughlin, David G., Tanya M. Bardakjian, Meredith Spindler, and Andres Deik. "Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability." Tremor and Other Hyperkinetic Movements 8 (March 28, 2018): 547. http://dx.doi.org/10.5334/tohm.412.

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33

Peall, K., D. Smith, M. Kurian, et al. "ARE PSYCHIATRIC SYMPTOMS A CORE PHENOTYPE OF MYOCLONUS DYSTONIA SYNDROME CAUSED BY SGCE MUTATIONS?" Journal of Neurology, Neurosurgery & Psychiatry 84, no. 9 (2013): e1-e1. http://dx.doi.org/10.1136/jnnp-2013-306103.24.

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34

Rachad, Laila, Hicham El Otmani, Adnane Karkar, Nadia El Kadmiri, and Sellama Nadifi. "A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome." Gene Reports 11 (June 2018): 121–23. http://dx.doi.org/10.1016/j.genrep.2018.03.005.

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35

Vavro, Jan, Ján Vavro, Petra Kováčiková, Peter Kopas, Marián Handrik, and Radka Bezdedová. "Numerical Analysis of Stress States for Graphitic Cast Iron Structures." Applied Mechanics and Materials 611 (August 2014): 252–55. http://dx.doi.org/10.4028/www.scientific.net/amm.611.252.

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The presented work is focused on the analysis of stress distribution around the graphitic particles in microstructure of ductile cast iron with the spheroidal shape of graphite (SGCI) and grey cast iron with the lamellar shape of graphite (LGCI). The analysis was made with help of the finite element method in the software system ADINA.v.8.6.2. On the basis of the real structure, the finite element method was used for creation of the model which was subsequently used for calculation of the distribution of stress in the material structure. The input data for numerical analysis were obtained on t

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36

Vavro, Jan, Ján Vavro, and Petra Kováčiková. "Distribution of Stress around the Graphitic Particles in Cast Iron Microstructure." Applied Mechanics and Materials 486 (December 2013): 20–25. http://dx.doi.org/10.4028/www.scientific.net/amm.486.20.

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The given work is focused on the analysis of the distribution of stress around graphitic particles in microstructure of the ductile cast iron with the spheroidal shape of graphite (SGCI) and grey cast iron with the lamellar shape of graphite (LGCI). The analysis was made with help of finite element method in the software system ADINA.v.8.6.2. On the basis of the real structure, the finite element method was used for creation of the model which was subsequently used for calculation of the distribution of stress in the material structure. The input data for numerical analysis were obtained on th

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37

Karpov, Andrey, Ravil Takhauov, Andrey Zerenkov, et al. "Descriptive characteristics of the cohort of workers from the Siberian Group of Chemical Enterprises (SGCE)." BIO Web of Conferences 14 (2019): 04012. http://dx.doi.org/10.1051/bioconf/20191404012.

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38

Xiao, Jianfeng, Satya R. Vemula, Yi Xue, et al. "Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome." Neurobiology of Disease 98 (February 2017): 52–65. http://dx.doi.org/10.1016/j.nbd.2016.11.003.

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39

Tedroff, Kristina, Arndt Rolfs, and Andreas Norling. "A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype." Acta Paediatrica 101, no. 2 (2011): e90-e92. http://dx.doi.org/10.1111/j.1651-2227.2011.02502.x.

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40

Hartmann, Christian Johannes, Barbara Leube, Lars Wojtecki, et al. "A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome." Journal of Neurology 258, no. 6 (2011): 1186–88. http://dx.doi.org/10.1007/s00415-011-5911-6.

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41

Candela, Santiago, María Isabel Vanegas, Alejandra Darling, et al. "Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results." Journal of Neurosurgery: Pediatrics 22, no. 4 (2018): 416–25. http://dx.doi.org/10.3171/2018.5.peds1814.

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OBJECTIVEThe purpose of this study was to verify the safety and accuracy of the Neuromate stereotactic robot for use in deep brain stimulation (DBS) electrode implantation for the treatment of hyperkinetic movement disorders in childhood and describe the authors’ initial clinical results.METHODSA prospective evaluation of pediatric patients with dystonia and other hyperkinetic movement disorders was carried out during the 1st year after the start-up of a pediatric DBS unit in Barcelona. Electrodes were implanted bilaterally in the globus pallidus internus (GPi) using the Neuromate robot withou

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42

Kim, Ji-Young, Woong-Woo Lee, Chae Won Shin, et al. "Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation." Parkinsonism & Related Disorders 42 (September 2017): 73–77. http://dx.doi.org/10.1016/j.parkreldis.2017.06.014.

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43

Thümmler, Susanne, Fabienne Giuliano, Olivier Pincemaille, Pascale Saugier-Veber, and Serge Perelman. "Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene." European Journal of Paediatric Neurology 13, no. 6 (2009): 559–61. http://dx.doi.org/10.1016/j.ejpn.2008.11.009.

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44

Kübler, Dorothee, Friederike Borngräber, Katja Lohmann, and Andrea A. Kühn. "Novel SGCE mutation in a patient with myoclonus-dystonia syndrome – Diagnostic delay of more than 40 years." Journal of Clinical Neuroscience 50 (April 2018): 131–32. http://dx.doi.org/10.1016/j.jocn.2018.01.055.

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45

Mencacci, Niccolò E., and Norbert Brüggemann. "KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?" Parkinsonism & Related Disorders 61 (April 2019): 1–3. http://dx.doi.org/10.1016/j.parkreldis.2019.03.006.

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46

Szubiga, Michał, Monika Rudzińska, Mirosław Bik-Multanowski, Jacek J. Pietrzyk, and Andrzej Szczudlik. "A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus–dystonia syndrome." Neurological Research 35, no. 6 (2013): 659–62. http://dx.doi.org/10.1179/1743132812y.0000000146.

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47

Carecchio, Miryam, Monia Magliozzi, Massimiliano Copetti, et al. "Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria." Movement Disorders 28, no. 6 (2013): 787–94. http://dx.doi.org/10.1002/mds.25506.

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48

Gultekin, Murat, Neha Prakash, Christos Ganos, et al. "A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia." Movement Disorders Clinical Practice 6, no. 6 (2019): 479–82. http://dx.doi.org/10.1002/mdc3.12805.

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49

Smallwood, Alan, Aris Papageorghiou, Kypros Nicolaides, et al. "Temporal Regulation of the Expression of Syncytin (HERV-W), Maternally Imprinted PEG10, and SGCE in Human Placenta1." Biology of Reproduction 69, no. 1 (2003): 286–93. http://dx.doi.org/10.1095/biolreprod.102.013078.

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50

Lohmann, K., S. Paus, E. Lohmann, et al. "Genetisch determinierte Dystonien." Nervenheilkunde 37, no. 03 (2018): 159–66. http://dx.doi.org/10.1055/s-0038-1642090.

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ZusammenfassungDystonien sind durch anhaltende oder intermittierende Muskelkontraktionen gekennzeichnet, die zu abnormen, häufig repetitiven Bewegungen verschiedener Körperteile führen. Die Einteilung der Dystonien erfolgt nach klinischen und ätiologischen Kriterien, wobei insbesondere die Genetik durch die Identifikation neuer, mit der Krankheit assoziierter Gene an Bedeutung gewonnen hat.Innerhalb des Krankheitsbildes der Dystonie können folgende Formen voneinander unterschieden werden: bei den isolierten Formen bestehen keine über die Dystonie hinausgehenden Zeichen oder Symptome; kombinier

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