Results 51 to 60 of about 28,506 (225)

Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis. [PDF]

, 2016
Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability and an increased prevalence of autism spectrum disorders (ASD). While the clinical presentation of each disorder is distinct, the molecular
Bagni, C., Hagerman, R.J., Lozano, R., Nobile, V., Pacini, L., Tassone, F., Yrigollen, C.M.   +6 more
core   +1 more source

Vascular Growth in the Fetal Lung [PDF]

, 2011
The structure of the lung is truly remarkable. It is primarily composed of three branched tubular networks (the airway, pulmonary artery and vein, bronchial artery and vein) which supply blood and air to the site of gas exchange and which maintain ...
Land, Stephen
core   +4 more sources

Hypoxia impairs adaptation of skeletal muscle protein turnover- and AMPK signaling during fasting-induced muscle atrophy. [PDF]

PLoS ONE, 2018
BACKGROUND:Hypoxemia in humans may occur during high altitude mountaineering and in patients suffering from ventilatory insufficiencies such as cardiovascular- or respiratory disease including Chronic Obstructive Pulmonary Disease (COPD).
C C de Theije, A M W J Schols, W H Lamers, D Neumann, S E Köhler, R C J Langen   +5 more
doaj   +1 more source

Synaptic Wnt/GSK3β Signaling Hub in Autism [PDF]

, 2016
Indexación: ScopusHundreds of genes have been associated with autism spectrum disorders (ASDs) and the interaction of weak and de novo variants derive from distinct autistic phenotypes thus making up the "spectrum." The convergence of these variants in ...
Avila, M.E., Caracci, M.O., De Ferrari, G.V.   +2 more
core   +1 more source

mTORC1 Activation by Loss of Tsc1 in Myelinating Glia Causes Downregulation of Quaking and Neurofascin 155 Leading to Paranodal Domain Disorganization

Frontiers in Cellular Neuroscience, 2018
Mutations in human tuberous sclerosis complex (TSC) genes TSC1 and TSC2 are the leading causes of developmental brain abnormalities and large tumors in other tissues.
Qian Shi, Julia Saifetiarova, Anna Marie Taylor, Manzoor A. Bhat   +3 more
doaj   +1 more source

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +2 more sources

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signalling [PDF]

, 2014
Most patients with tuberous sclerosis complex (TSC) develop cortical tubers that cause severe neurological disabilities. It has been suggested that defects in neuronal differentiation and/or migration underlie the appearance of tubers.
Aguilar, H. (Helena), Ampuero, I. (Israel), Carmona, M. (Marga), Castellsagué, J. (Joan), Chen, H. (Helen), Ferrer, I. (Isidro), García, N. (Nadia), Gómez-Baldó, L. (Laia), Jiang, J. (John), Lázaro, C. (Conxi), Maxwell, C.A. (Christopher), Mohan, P. (Pooja), Nellist, M.D. (Mark), Pujana, M.A. (Miguel), Russi, A. (Antonio), Skowron, M. (Margaretha)   +15 more
core   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +1 more source