Results 141 to 150 of about 172,523 (297)

Interactions of the Fragile X Protein Family with the G Quadruplex Forming RNA Targets [PDF]

, 2008
The absence of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP, an RNA binding protein and, part of large ribonucleoprotein complexes, is proposed to participate in the ...
Menon, Lakshmi
core   +1 more source

Emerging role of the KCNT1 Slack channel in intellectual disability [PDF]

, 2014
The sodium-activated potassium KNa channels Slack and Slick are encoded by KCNT1 and KCNT2, respectively. These channels are found in neurons throughout the brain, and are responsible for a delayed outward current termed IKNa.
Grace E. Kim, Leonard K. Kaczmarek
core   +2 more sources

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

Evaluation of the Structural disorder of the protein FMR1 with Carbon Composition [PDF]

2nd Annual International Conference on BioInformatics and Computational Biology (BICB 2012), Bangkok, Thailand, 2012
Ever since the disorder of proteins is the main cause for many diseases. As compared with other disorders, the major reason that causes disease is of structural inability of many proteins. The potentially imminent availability of recent datasets helps one to discover the protein disorders, however in majority of cases, the stability of proteins depend ...
arxiv  

Theory on the mechanism of site-specific DNA-protein interactions in the presence of traps [PDF]

, 2016
The speed of site-specific binding of transcription factor (TFs) proteins with genomic DNA seems to be strongly retarded by the randomly occurring sequence traps. Traps are those DNA sequences sharing significant similarity with the original specific binding sites.
arxiv   +1 more source

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

Neurobiology of Disease, 2008
Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP is an RNA-binding protein and is a component of messenger ribonucleoprotein complexes, associated with brain ...
Femke M.S. de Vrij, Josien Levenga, Herma C. van der Linde, Sebastiaan K. Koekkoek, Chris I. De Zeeuw, David L. Nelson, Ben A. Oostra, Rob Willemsen   +7 more
doaj  

Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16312 Abstract Aim To characterize autism and co‐occurring tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.
Rebecca A. Mitchell, Francesca Lami, Sarah M. Barton, A. Simon Harvey, Katrina Williams   +4 more
wiley   +1 more source

Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P [PDF]

Biochemical Journal, 1999
The absence of fragile-X mental-retardation protein (FMRP) results in fragile-X syndrome. Two other fragile-X-related (FXR) proteins have been described, FXR1P and FXR2P, which are both very similar in amino acid sequence to FMRP. Interaction between the three proteins as well as with themselves has been demonstrated.
F. Tamanini, L. Van Unen, C. Bakker, N. Sacchi, H. Galjaard, B. A. Oostra, A. T. Hoogeveen   +6 more
openaire   +4 more sources