Results 131 to 140 of about 28,649 (270)

A Quantitative ELISA Assay for the Fragile X Mental Retardation 1 Protein [PDF]

The Journal of Molecular Diagnostics, 2009
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency. While reliable and quantitative assays for the number of CGG repeats
Danh V. Nguyen, George Parrott, Randi J Hagerman, Paul J. Hagerman, Dag H. Yasui, Greg L. Mayeur, Christine Iwahashi, Flora Tassone   +7 more
openaire   +3 more sources

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources

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

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, Volume 67, Issue 8, Page 1095-1102, August 2025.
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 This original article is commented by Thompson on pages 975–976 of this issue. Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐
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

Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. [PDF]

, 2016
Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn ...
Gane, Louise W, Giulivi, Cecilia, Hagerman, Randi, Napoli, Eleonora, Ross-Inta, Catherine, Smilowitz, Jennifer T, Song, Gyu, Tassone, Flora, Wong, Sarah   +8 more
core   +3 more sources

Shared Mechanisms in Dementia and Depression: The Modulatory Role of Physical Exercise

Journal of Neurochemistry, Volume 169, Issue 8, August 2025.
Dementia and depression are two prevalent disorders that warrant attention due to their high prevalence and contribution to the global burden of disease. Depression is a prevalent condition among the elderly population, and it has been identified as a risk factor for dementia, thus becoming an important factor for dementia prevention strategies ...
Pedro Borges de Souza, Ana Lúcia S. Rodrigues, Fernanda G. De Felice   +2 more
wiley   +1 more source

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

Event-related potential alterations in fragile X syndrome [PDF]

, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability (ID), associated with a wide range of cognitive and behavioral impairments.
Inga S. Knoth, Sarah Lippé
core   +1 more source

FMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment

Biomolecules
The Fragile X Mental Retardation 1 (FMR1) gene is well-known for its role in Fragile X syndrome, a neurodevelopmental disorder, but emerging evidence suggests its involvement in regulating cellular metabolism, with implications for cancer biology.
Renbin Zhou, Hao Lin, Xinyu Dou, Bang Zeng, Xinyi Zhao, Lei Ma, Drissa Diarra, Bing Liu, Wei-Wei Deng, Tianfu Wu   +9 more
doaj   +1 more source