Results 51 to 60 of about 28,100 (214)

A quantitative homogeneous assay for fragile X mental retardation 1 protein [PDF]

Journal of Neurodevelopmental Disorders, 2013
Abstract Background Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome – an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism.
Schutzius, Gabi, Bleckmann, Dorothee, Kapps-Fouthier, Sandra, di Giorgio, Francesco, Gerhartz, Bernd, Weiss, Andreas   +5 more
openaire   +2 more sources

Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish.

PLoS Genetics, 2015
Fragile X syndrome (FXS) is the most frequent inherited form of mental retardation. The cause for this X-linked disorder is the silencing of the fragile X mental retardation 1 (fmr1) gene and the absence of the fragile X mental retardation protein (Fmrp).
Adi Shamay-Ramot, Khen Khermesh, Hagit T Porath, Michal Barak, Yishay Pinto, Chaim Wachtel, Alona Zilberberg, Tali Lerer-Goldshtein, Sol Efroni, Erez Y Levanon, Lior Appelbaum   +10 more
doaj   +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

The bantam microRNA is associated with drosophila fragile X mental retardation protein and regulates the fate of germline stem cells.

PLoS Genetics, 2009
Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays
Yingyue Yang, Shunliang Xu, Laixin Xia, Jun Wang, Shengmei Wen, Peng Jin, Dahua Chen   +6 more
doaj   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]

, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core   +1 more source

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

The research progress on the role of FMRP in the pathogenesis of tumors

Pifu-xingbing zhenliaoxue zazhi, 2023
Fragile X mental retardation protein (FMRP) is a selective RNA-binding protein that is highly expressed in neurons and influences cytoskeletal remodeling, cell-cell signal transduction and interactions.
Huizhi YANG, Sirui LI, Guiyue CAI, Jingwen ZOU, Junnan REN, Rongyi CHEN   +5 more
doaj   +1 more source

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +1 more source

Enhanced markers of oxidative stress, altered antioxidants and NADPH-oxidase activation in brains from Fragile X mental retardation 1-deficient mice, a pathological model for Fragile X syndrome. [PDF]

, 2007
Política de acceso abierto tomada de: https://v2.sherpa.ac.uk/id/publication/6992Fragile X syndrome is the most common form of inherited mental retardation in humans.
De Diego‑Otero, Yolanda, Decara, Juan, Del Arco-Herrera, Ignacio, El-Bekay, Rajaa, Rodriguez-de-Fonseca, Fernando, Romero-Zerbo, Silvana Yanina, Sánchez-Salido, Lourdes   +6 more
core   +1 more source