Results 41 to 50 of about 3,757,153 (283)

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

Molecular Cytogenetics, 2018
Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Thomas Bertrand   +3 more
doaj   +1 more source

Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study

Digital Health, 2023
Sleep is vital to many processes involved in the well-being and health of children; however, it is estimated that 80% of children with Rett syndrome suffer from sleep disorders.
Miroslava Migovich, Akshith Ullal, Cary Fu, Sarika U Peters, Nilanjan Sarkar   +4 more
doaj   +1 more source

Rett Syndrome. Guidelines for Individual Intervention

The Scientific World Journal, 2006
Rett syndrome (RS) is a neurological disorder affecting mainly females. RS is considered the second most frequent cause for severe and complex neurological dysfunction in females after Down syndrome.
Meir Lotan
doaj   +1 more source

Osteoporosis in Rett Syndrome: A Study on Normal Values

The Scientific World Journal, 2006
Osteoporosis is the reduction of calcium density in bones, usually evident in postmenopausal females, yet the tendency for osteoporosis can also be identified at a young age, especially in patients with chronic diseases, disabilities, and on chronic ...
Lilit Zysman, Meir Lotan, Bruria Ben-Zeev   +2 more
doaj   +1 more source

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

iScience, 2022
Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez   +17 more
doaj   +1 more source

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

Frontiers in Cell and Developmental Biology, 2020
Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology,
A. R. Gomes, Tiago G. Fernandes, S. Vaz, Teresa P. Silva, E. Bekman, S. Xapelli, S. Duarte, M. Ghazvini, J. Gribnau, A. Muotri, C. A. Trujillo, A. Sebastião, J. Cabral, M. M. Diogo   +13 more
semanticscholar   +1 more source

Generation and characterization of rat and mouse monoclonal antibodies specific for MeCP2 and their use in X-inactivation studies [PDF]

, 2011
Methyl CpG binding protein 2 (MeCP2) binds DNA, and has a preference for methylated CpGs and, hence, in cells, it accumulates in heterochromatin. Even though it is expressed ubiquitously MeCP2 is particularly important during neuronal maturation. This is
Rottach Andrea, Jost, K.L., Becker, Annette, Andrea Rottach, Leonhardt, Heinrich, Becker, A., Manel Esteller, Esteller, Manel, K Laurence Jost, Wolf, P., Jost K. Laurence, Wolf, Patricia, Cardoso, M. Cristina, Leonhardt Heinrich, Paolo Petazzi, Huertas Dori, Annette Becker, Cardoso M. Cristina, Patricia Wolf, Milden Manuela, Wolf Patricia, Esteller Manel, K. Laurence Jost, Bertulat Bianca, Dori Huertas, Milden, M., Huertas, D., Juan Sandoval, Bianca Bertulat, Sandoval, Juan, M. Cristina Cardoso, Bertulat, B., Kremmer Elisabeth, Petazzi Paolo, Milden, Manuela, Huertas, Dori, Becker Annette, Rottach, A., Jost, K. Laurence, Sandoval, J., Esteller, M., Kremmer, E., Manuela Milden, Kremmer, Elisabeth, Cardoso, M.C., Heinrich Leonhardt, Sandoval Juan, Petazzi, Paolo, Petazzi, P., M Cristina Cardoso, Bertulat, Bianca, Rottach, Andrea, Elisabeth Kremmer, Leonhardt, H., Esteller, Manel, 1968-   +54 more
core   +2 more sources

Disease modelling of a human neurodevelopmental disorder using mouse embryonic stem cells [PDF]

, 2011
As cultured embryonic stem (ES) cells can be differentiated in neurons under well-defined conditions, they provide a unique opportunity to model and study diseases of the nervous system such as Rett syndrome.
Yazdani Shektaei, Morteza
core   +1 more source

Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers

Frontiers in Neurology, 2022
BackgroundBreathing abnormalities are common in Rett syndrome (RTT), a pervasive neurodevelopmental disorder almost exclusively affecting females. RTT is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene.
Silvia Leoncini, Silvia Leoncini, Cinzia Signorini, Lidia Boasiako, Lidia Boasiako, Valeria Scandurra, Joussef Hayek, Lucia Ciccoli, Marcello Rossi, Roberto Canitano, Claudio De Felice, Claudio De Felice   +11 more
doaj   +1 more source

Multisystem comorbidities in classic Rett syndrome: a scoping review

BMJ Paediatrics Open, 2020
Background Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers.
C. Fu, D. Armstrong, E. Marsh, D. Lieberman, K. Motil, R. Witt, S. Standridge, J. Lane, T. Dinkel, Mary D. Jones, K. Hale, B. Suter, D. Glaze, Jeffrey L. Neul, A. Percy, T. Benke   +15 more
semanticscholar   +1 more source