keyword
MENU ▼
Read by QxMD icon Read
search

SGCE

keyword
https://www.readbyqxmd.com/read/30051747/effects-of-maternal-nutrition-on-the-expression-of-genomic-imprinted-genes-in-ovine-fetuses
#1
Jingyue Ellie Duan, Mingyuan Zhang, Kaleigh Flock, Sahar Al Seesi, Ion Mandoiu, Amanda Jones, Elizabeth Johnson, Sambhu Pillai, Maria Hoffman, Katelyn McFadden, Hesheng Jiang, Sarah Reed, Kristen Govoni, Steve Zinn, Zongliang Jiang, Xiuchun Cindy Tian
Genomic imprinting is an epigenetic phenomenon of differential allelic expression based on parental origin. To date, 263 imprinted genes have been identified among all investigated mammalian species. However, only 21 have been described in sheep, of which 11 are annotated in the current ovine genome. Here, we aim to i) use DNA/RNA high throughput sequencing to identify new monoallelically expressed and imprinted genes in day 135 ovine fetuses, and ii) determine whether maternal diet (100%, 60%, or 140% of National Research Council Total Digestible Nutrients) influences expression of imprinted genes...
July 27, 2018: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/30028274/frameless-robot-assisted-pallidal-deep-brain-stimulation-surgery-in-pediatric-patients-with-movement-disorders-precision-and-short-term-clinical-results
#2
Santiago Candela, María Isabel Vanegas, Alejandra Darling, Juan Darío Ortigoza-Escobar, Mariana Alamar, Jordi Muchart, Alejandra Climent, Enrique Ferrer, Jordi Rumià, Belén Pérez-Dueñas
OBJECTIVE The 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. METHODS A 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 without the stereotactic frame...
July 20, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29952836/myoclonus-dystonia-classification-phenomenology-pathogenesis-and-treatment
#3
Emmanuel Roze, Anthony E Lang, Marie Vidailhet
PURPOSE OF REVIEW: The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We will also discuss genetics, classification issues, and diagnostic criteria. RECENT FINDINGS: Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene. Childhood-onset myoclonus that predominates over dystonia with prominent upper body involvement, an absence of truncal dystonia, associated anxiety or compulsivity, and a positive family history are helpful diagnostic clues...
August 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29801903/targeted-gene-capture-sequencing-in-diagnosis-of-dystonia-patients
#4
Jun Ma, Lin Wang, Ying-Mai Yang, Xin-Hua Wan
BACKGROUND: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Molecular diagnosis is important for an accurate diagnosis of dystonia. Targeted gene capture sequencing has been an effective method for screening multiple candidate genes simultaneously. This method, however, has been rarely reported to be used with dystonia patients. OBJECTIVES AND METHODS: To assess the effectiveness of the targeted gene capture sequencing in dystonia, we performed custom target gene capture followed by next-generation sequencing in dystonia patients from China...
July 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29607243/hereditary-myoclonus-dystonia-a-novel-sgce-variant-and-phenotype-including-intellectual-disability
#5
David G Coughlin, Tanya M Bardakjian, Meredith Spindler, Andres Deik
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)- SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant. Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29429788/novel-sgce-mutation-in-a-patient-with-myoclonus-dystonia-syndrome-diagnostic-delay-of-more-than-40-years
#6
Dorothee Kübler, Friederike Borngräber, Katja Lohmann, Andrea A Kühn
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard...
April 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29231991/combination-of-tnm-staging-and-pathway-based-risk-score-models-in-patients-with-gastric-cancer
#7
Yang-Yang Zhou, Yan-Ting Kang, Chao Chen, Fan-Fan Xu, Hao-Nan Wang, Rong Jin
Due to the complexity and heterogeneity of gastric cancer (GC) in individual patient, current staging system is inadequate for predicting outcome of GC. Comprehensive computational and bioinformatics approach may triumph for the prediction. In this study, GC patients were devided according to stage and treatment: curative surgery plus chemoradiotherapy in stage II, curative surgery plus chemoradiotherapy in stages III, and IV, unresectable metastatic gastric cancer. The training sets were downloaded from GEO datasets (GSE26253 and GSE14208)...
April 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28869676/alcohol-improves-cerebellar-learning-deficit-in-myoclonus-dystonia-a-clinical-and-electrophysiological-investigation
#8
Anne Weissbach, Elisa Werner, Julien F Bally, Sinem Tunc, Sebastian Löns, Dagmar Timmann, Kirsten E Zeuner, Vera Tadic, Norbert Brüggemann, Anthony Lang, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVE: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0...
October 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28823931/abnormal-striatal-plasticity-in-a-dyt11-sgce-myoclonus-dystonia-mouse-model-is-reversed-by-adenosine-a2a-receptor-inhibition
#9
M Maltese, G Martella, P Imbriani, Jeroen Schuermans, Karolien Billion, G Sciamanna, Febin Farook, G Ponterio, A Tassone, M Santoro, P Bonsi, A Pisani, Rose E Goodchild
Striatal dysfunction is implicated in many movement disorders. However, the precise nature of defects often remains uncharacterized, which hinders therapy development. Here we examined striatal function in a mouse model of the incurable movement disorder, myoclonus dystonia, caused by SGCE mutations. Using RNAseq we found surprisingly normal gene expression, including normal levels of neuronal subclass markers to strongly suggest that striatal microcircuitry is spared by the disease insult. We then functionally characterized Sgce mutant medium spiny projection neurons (MSNs) and cholinergic interneurons (ChIs)...
December 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28707723/novel-sgce-mutation-p-glu65-in-a-japanese-family-with-myoclonus-dystonia
#10
Noriko Koide, Sumito Dateki, Kiyoko Watanabe, Hiroyuki Moriuchi
No abstract text is available yet for this article.
September 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28690014/psychiatric-symptoms-in-myoclonus-dystonia-syndrome-are-just-concomitant-features-regardless-of-the-sgce-gene-mutation
#11
Ji-Young Kim, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son, Beomseok Jeon
INTRODUCTION: Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) and panic disorder have been frequently reported to be related with the epsilon-sarcoglycan gene (SGCE) mutation. However, the rate of psychiatric disorders has not been compared between MD patients with the SGCE mutation (SGCE (+)) and without the SGCE mutation (SGCE (-)). We analyzed the psychiatric data in both SGCE (+) and SGCE (-) MD patients to determine the association of the SGCE mutation with psychiatric disorders in MD...
September 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28676681/maternal-vitamin-d-dna-methylation-at-imprint-regulatory-regions-and-offspring-weight-at-birth-1-year-and-3-years
#12
S E Benjamin Neelon, A J White, A C Vidal, J M Schildkraut, A P Murtha, S K Murphy, S W Kullman, C Hoyo
BACKGROUND/OBJECTIVE: Vitamin D deficiency during pregnancy is associated with poor birth outcomes in some studies, but few have examined weight beyond birth. In addition, little is known about how vitamin D influences DNA methylation of regulatory regions known to be involved in growth, as possible mediators to weight status in offspring. SUBJECTS/METHODS: We conducted linear regressions to assess maternal plasma 25-hydroxyvitamin D (25(OH)D) by quartile and birth weight for gestational age z-score, 1-year weight-for-length z-score and 3-year body mass index (BMI) z-score among 476 mother/infant dyads from a prospective cohort...
April 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28484201/epigenetic-analysis-of-bovine-parthenogenetic-embryonic-fibroblasts
#13
Masahiro Kaneda, Masashi Takahashi, Ken-Ichi Yamanaka, Koji Saito, Masanori Taniguchi, Satoshi Akagi, Shinya Watanabe, Takashi Nagai
Although more than 100 imprinted genes have already been identified in the mouse and human genomes, little is known about genomic imprinting in cattle. For a better understanding of these genes in cattle, parthenogenetically activated bovine blastocysts were transferred to recipient cows to obtain parthenotes, and fibroblasts derived from a Day 40 (Day 0 being the day of parthenogenetic activation) parthenogenetic embryo (BpEFs) were successfully obtained. Bovine embryonic fibroblasts (BEFs) were also isolated from a normal fertilized embryo obtained from an artificially inseminated cow...
August 19, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28283962/update-on-the-genetics-of-dystonia
#14
REVIEW
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28155872/faithful-sgce-imprinting-in-ipsc-derived-cortical-neurons-an-endogenous-cellular-model-of-myoclonus-dystonia
#15
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A Carlisle, Derek J Blake, Ana Westenberger, Christine Klein, Anne Grünewald
In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27890709/role-of-major-and-brain-specific-sgce-isoforms-in-the-pathogenesis-of-myoclonus-dystonia-syndrome
#16
Jianfeng Xiao, Satya R Vemula, Yi Xue, Mohammad M Khan, Francesca A Carlisle, Adrian J Waite, Derek J Blake, Ioannis Dragatsis, Yu Zhao, Mark S LeDoux
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of the "brain-specific" isoform and other isoforms derived from exon 11b may be central to the pathogenesis of DYT11...
February 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27625242/myoclonus-dystonia-an-under-recognized-entity-report-of-5-cases
#17
Puneet Jain, Suvasini Sharma, Fred van Ruissen, Satinder Aneja
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances...
September 2016: Neurology India
https://www.readbyqxmd.com/read/27531176/bilateral-pallidal-deep-brain-stimulation-in-myoclonus-dystonia-our-experience-in-three-cases-and-their-follow-up
#18
G Fernández-Pajarín, A Sesar, J L Relova, B Ares, I Jiménez-Martín, P Blanco-Arias, M Gelabert-González, A Castro
BACKGROUND: Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the SGCE gene. MDS is characterized by mild dystonia and myoclonic jerks, and a constellation of psychiatric manifestations. Deep brain stimulation (DBS) of bilateral internal globus pallidus (GPi) has recently been introduced as a new and beneficial technique to improve motor symptoms in MDS. METHODS: We report three proven genetically MDS cases with successful response to DBS, and their clinical evolution over years...
October 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27342741/report-of-progressive-myoclonus-ataxia-pma-in-two-chinese-pedigrees
#19
Lichao Sun, Jianguo Wu, Chunlan Liu, Weihong Lin
OBJECTIVE: To describe the clinical characteristics of patients diagnosed with progressive myoclonus ataxia (PMA) from two Chinese pedigrees. METHODS: An analysis of clinical data is presented and inferences drawn. RESULTS: The propositus from pedigree-I (9-year-old female) could not walk stably and had a history of frequent falls. The symptoms aggravated over time until she lost the ability to take care of herself. Her physical and mental development (including cognitive ability) was normal...
October 2016: Neurological Research
https://www.readbyqxmd.com/read/27242657/distribution-and-coexistence-of-myoclonus-and-dystonia-as-clinical-predictors-of-sgce-mutation-status-a-pilot-study
#20
Rodi Zutt, Joke M Dijk, Kathryn J Peall, Hans Speelman, Yasmine E M Dreissen, Maria Fiorella Contarino, Marina A J Tijssen
INTRODUCTION: Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains difficult. METHODS: Forty consecutive patients meeting pre-existing diagnostic clinical criteria for M-D underwent a standardized clinical examination (20 SGCE mutation positive and 20 negative)...
2016: Frontiers in Neurology
keyword
keyword
167468
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"