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https://www.readbyqxmd.com/read/28212680/mecp2-mutations-progress-towards-understanding-and-treating-rett-syndrome
#1
Ruth R Shah, Adrian P Bird
Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
February 17, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28211484/regulation-of-mrna-splicing-by-mecp2-via-epigenetic-modifications-in-the-brain
#2
Tian-Lin Cheng, Jingqi Chen, Huida Wan, Bin Tang, Weidong Tian, Lujian Liao, Zilong Qiu
Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2-containing genomic segments lead to severe autistic symptoms in human. MECP2-coding protein methyl-CpG-binding protein 2 (MeCP2) is involved in transcription regulation, microRNA processing and mRNA splicing. However, molecular mechanisms underlying the involvement of MeCP2 in mRNA splicing in neurons remain largely elusive. In this work we found that the majority of MeCP2-associated proteins are involved in mRNA splicing using mass spectrometry analysis with multiple samples from Mecp2-null rat brain, mouse primary neuron and human cell lines...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28201743/mecp2-deficiency-results-in-robust-rett-like-behavioural-and-motor-deficits-in-male-and-female-rats
#3
Kelsey C Patterson, Virginia E Hawkins, Kara M Arps, Daniel K Mulkey, Michelle L Olsen
No abstract text is available yet for this article.
December 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28178201/rett-syndrome-a-focus-on-gut-microbiota
#4
Elisa Borghi, Francesca Borgo, Marco Severgnini, Miriam Nella Savini, Maria Cristina Casiraghi, Aglaia Vignoli
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short-chain fatty acid (SCFA) production. We enrolled eight RTT patients and 10 age- and sex-matched healthy women, all without dietary restrictions...
February 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28177766/functional-assessment-of-mecp2-in-rett-syndrome-and-cancers-of-breast-colon-and-prostate
#5
Somnath Pandey, Kevin Pruitt
Ever since the first report that mutations in methyl-CpG-binding protein 2 (MeCP2) causes Rett syndrome (RTT), a severe neurological disorder in females world-wide, there has been a keen interest to gain a comprehensive understanding of this protein. While the classical model associated with MeCP2 function suggests its role in gene suppression via recruitment of co-repressor complexes and histone deacetylases to methylated CpG-sites, recent discoveries have brought to light its role in transcription activation, modulation of RNA splicing and chromatin compaction...
November 10, 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28177174/a-case-controlled-comparison-of-postoperative-analgesic-dosing-between-girls-with-rett-syndrome-and-girls-with-and-without-developmental-disability-undergoing-spinal-fusion-surgery
#6
Chantel C Barney, Alyssa M Merbler, Kelsey Quest, Breanne J Byiers, George L Wilcox, Scott Schwantes, Samuel A Roiko, Timothy Feyma, Arthur Beisang, Frank J Symons
BACKGROUND: Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome. AIM: The goal of this preliminary investigation was to compare postoperative analgesic management among a sample of girls with Rett syndrome compared to girls with and without developmental disability undergoing spinal fusion surgery...
February 8, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28173151/exclusive-expression-of-mecp2-in-the-nervous-system-distinguishes-between-brain-and-peripheral-rett-syndrome-like-phenotypes
#7
Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cobb
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28164278/quantification-of-walking-based-physical-activity-and-sedentary-time-in-individuals-with-rett-syndrome
#8
Jenny Downs, Helen Leonard, Kingsley Wong, Nikki Newton, Kylie Hill
AIM: To quantify, in individuals with Rett syndrome with the capacity to walk, walking-based activity and sedentary time, and to analyse the influences of age, walking ability, scoliosis, and the severity of epilepsy. METHOD: Sixty-four participants with a mean age of 17 years and 7 months (standard deviation [SD] 9y) were recruited from the Australian Rett Syndrome Database for this cross-sectional study. Each participant wore a StepWatch Activity Monitor for at least 4 days...
February 6, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28163986/neurobiologically-based-treatments-in-rett-syndrome-opportunities-and-challenges
#9
REVIEW
Walter E Kaufmann, Jennifer L Stallworth, David B Everman, Steven A Skinner
Introduction: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that primarily affects females, typically resulting in a period of developmental regression in early childhood followed by stabilization and severe chronic cognitive, behavioral, and physical disability. No known treatment exists beyond symptomatic management, and while insights into the genetic cause, pathophysiology, neurobiology, and natural history of RTT have been gained, many challenges remain. Areas covered: Based on a comprehensive survey of the primary literature on RTT, this article describes and comments upon the general and unique features of the disorder, genetic and neurobiological bases of drug development, and the history of clinical trials in RTT, with an emphasis on drug trial design, outcome measures, and implementation...
October 2, 2016: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/28155824/analysis-of-the-structure-of-the-torso-in-the-frontal-plane-in-girls-with-rett-syndrome-taking-into-account-their-functional-status
#10
Monika Małachowska-Sobieska, Katarzyna Barczyk-Pawelec, Zuzanna Marcmiszyn, Ewa Demczuk-Włodarczyk, Beata Skolimowska, Anna Maćków, Agnieszka Miler
BACKGROUND: Rett syndrome is a rare developmental disorder with a genetic background, and scoliosis is one of its many complications. The aim of the present study was to assess the structure of the torso in the frontal plane in RTT. It was assumed that asymmetry of the structure of the torso in the frontal plane would be smaller in girls who are able to maintain a vertical body position. MATERIAL AND METHODS: The study included 14 girls previously diagnosed with RTT aged between 3 and 15 years, who were divided into 2 groups...
March 23, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28150739/alterations-in-the-carnitine-cycle-in-a-mouse-model-of-rett-syndrome
#11
Sabrina Mucerino, Anna Di Salle, Nicola Alessio, Sabrina Margarucci, Raffaella Nicolai, Mariarosa A B Melone, Umberto Galderisi, Gianfranco Peluso
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients' electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28143937/screen-for-reactivation-of-mecp2-on-the-inactive-x-chromosome-identifies-the-bmp-tgf-%C3%AE-superfamily-as-a-regulator-of-xist-expression
#12
Smitha Sripathy, Vid Leko, Robin L Adrianse, Taylor Loe, Eric J Foss, Emily Dalrymple, Uyen Lao, Tonibelle Gatbonton-Schwager, Kelly T Carter, Bernhard Payer, Patrick J Paddison, William M Grady, Jeannie T Lee, Marisa S Bartolomei, Antonio Bedalov
Rett syndrome (RS) is a debilitating neurological disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-CpG-binding protein MeCP2 on the X chromosome. Because restoration of MeCP2 expression in a mouse model reverses neurologic deficits in adult animals, reactivation of the wild-type copy of MeCP2 on the inactive X chromosome (Xi) presents a therapeutic opportunity in RS. To identify genes involved in MeCP2 silencing, we screened a library of 60,000 shRNAs using a cell line with a MeCP2 reporter on the Xi and found 30 genes clustered in seven functional groups...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28140743/the-roles-of-motor-activity-and-environmental-enrichment-in-intellectual-disability
#13
Andrea De Giorgio
In people with intellectual disabilities, an enriched environment can stimulate the acquisition of motor skills and could partially repair neuronal impairment thanks to exploration and motor activity. A deficit in environmental and motor stimulation leads to low scores in intelligence tests and can cause serious motor skill problems. Although studies in humans do not give much evidence for explaining basic mechanisms of intellectual disability and for highlighting improvements due to enriched environmental stimulation, animal models have been valuable in the investigation of these conditions...
January 31, 2017: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/28139759/the-intervening-domain-from-mecp2-enhances-the-dna-affinity-of-the-methyl-binding-domain-and-provides-an-independent-dna-interaction-site
#14
Rafael Claveria-Gimeno, Pilar M Lanuza, Ignacio Morales-Chueca, Olga C Jorge-Torres, Sonia Vega, Olga Abian, Manel Esteller, Adrian Velazquez-Campoy
Methyl-CpG binding protein 2 (MeCP2) preferentially interacts with methylated DNA and it is involved in epigenetic regulation and chromatin remodelling. Mutations in MeCP2 are linked to Rett syndrome, the leading cause of intellectual retardation in girls and causing mental, motor and growth impairment. Unstructured regions in MeCP2 provide the plasticity for establishing interactions with multiple binding partners. We present a biophysical characterization of the methyl binding domain (MBD) from MeCP2 reporting the contribution of flanking domains to its structural stability and dsDNA interaction...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28138553/influenza-a-induces-dysfunctional-immunity-and-death-in-mecp2-overexpressing-mice
#15
James C Cronk, Jasmin Herz, Taeg S Kim, Antoine Louveau, Emily K Moser, Ashish K Sharma, Igor Smirnov, Kenneth S Tung, Thomas J Braciale, Jonathan Kipnis
Loss of function or overexpression of methyl-CpG-binding protein 2 (MeCP2) results in the severe neurodevelopmental disorders Rett syndrome and MeCP2 duplication syndrome, respectively. MeCP2 plays a critical role in neuronal function and the function of cells throughout the body. It has been previously demonstrated that MeCP2 regulates T cell function and macrophage response to multiple stimuli, and that immune-mediated rescue imparts significant benefit in Mecp2-null mice. Unlike Rett syndrome, MeCP2 duplication syndrome results in chronic, severe respiratory infections, which represent a significant cause of patient morbidity and mortality...
January 26, 2017: JCI Insight
https://www.readbyqxmd.com/read/28132121/assessment-of-caregiver-inventory-for-rett-syndrome
#16
Jane B Lane, Amber R Salter, Nancy E Jones, Gary Cutter, Joseph Horrigan, Steve A Skinner, Walter E Kaufmann, Daniel G Glaze, Jeffrey L Neul, Alan K Percy
Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher's exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment...
January 28, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28112551/choice-making-in-rett-syndrome-a-descriptive-study-using-video-data
#17
Anna Urbanowicz, Natalie Ciccone, Sonya Girdler, Helen Leonard, Jenny Downs
PURPOSE: To describe the choice-making abilities of girls and women with Rett syndrome. METHOD: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3-35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome...
January 23, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28111378/differential-x-chromosome-inactivation-patterns-during-the-propagation-of-human-induced-pluripotent-stem-cells
#18
Tomoko Andoh-Noda, Wado Akamatsu, Kunio Miyake, Tetsuro Kobayashi, Manabu Ohyama, Hiroshi Kurosawa, Takeo Kubota, Hideyuki Okano
Human induced pluripotent stem cells (hiPSCs) represent a potentially useful tool for studying the molecular mechanisms of disease thanks to the ability to generate patient-specific hiPSC clones. However, previous studies have reported that DNA methylation profiles, including those for imprinted genes, may change during passaging of hiPSCs. This is particularly problematic for hiPSC models of X-linked disease, as unstable X chromosome inactivation status may affect the detection of phenotypes. In the present study, we examined the epigenetic status of hiPSCs derived from patients with Rett syndrome, an X-linked disease during long-term culture...
January 20, 2017: Keio Journal of Medicine
https://www.readbyqxmd.com/read/28111120/real-world-eq5d-health-utility-scores-for-patients-with-metastatic-lung-cancer-by-molecular-alteration-and-response-to-therapy
#19
Catherine Labbé, Yvonne Leung, João Gabriel Silva Lemes, Erin Stewart, Catherine Brown, Andrea Perez Cosio, Mark Doherty, Grainne M O'Kane, Devalben Patel, Nicholas Cheng, Mindy Liang, Gursharan Gill, Alexandra Rett, Hiten Naik, Lawson Eng, Nicole Mittmann, Natasha B Leighl, Penelope A Bradbury, Frances A Shepherd, Wei Xu, Geoffrey Liu, Doris Howell
INTRODUCTION: Economic analyses of upcoming treatments for lung cancer benefit from real-world health utility scores (HUSs) in an era of targeted therapy. METHODS: A longitudinal cohort study at Princess Margaret Cancer Centre evaluated 1571 EQ5D-3L-derived HUSs in 475 outpatients with metastatic lung cancer across various disease states. Patients with epidermal growth factor receptor (EGFR) (n = 183) and anaplastic lymphoma kinase (ALK) (n = 38) driver alterations were enriched through targeted enrolment; patients with wild-type non-small-cell lung cancer (WT NSCLC) (n = 224) and small-cell lung cancer (SCLC) (n = 30) were sampled randomly...
December 28, 2016: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28110691/is-insulin-growth-factor-1-the-future-for-treating-autism-spectrum-disorder-and-or-schizophrenia
#20
Rami Bou Khalil
To date, no curative psychopharmacologic treatment exists for the core symptoms of autism spectrum disorder (ASD) as well as for schizophrenia. Bumatenide is a specific antagonist of the first isoform of the Na-K-Cl cotransporter (NKCC1). It is usually used as a diuretic but may also promote a decrease in intraneuronal chloride ion concentration leading to hyperpolarization in neuronal membrane and subsequent decrease in neuronal hyperexcitability. This physiologic effect has been considered to be behind the relative efficacy of bumetanide in improving symptoms of ASD and, to a lesser extent, schizophrenia...
February 2017: Medical Hypotheses
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