Results 81 to 90 of about 19,944 (229)

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known.
Wheeler, Anne C, Sideris, John, Hagerman, Randi, Berry-Kravis, Elizabeth, Tassone, Flora, Bailey, Donald B   +5 more
openaire   +4 more sources

Expression levels of Fmr1 and FMRP in Fmr1^CRE.

, 2021
Frontal (A) and saggital (B) views of 13.5GD embryonic mouse heads following whole-mount in situ hybridization for Fmr1. In each panel the wild-type male embryo is shown on the left and the Fmr1CRE embryo on the right. There is loss of expression of Fmr1
James G. Prendergast (8038910), Olivera Spasic-Boskovic (6881501), Emily Osterweil (11273475), Hugues Roest Crollius (11273478), Adam Jackson (6637928), Liusaidh J. Owen (11273463), Graeme Grimes (11273466), Catherine M. Abbott (11273472), Lambert Moyon (11273460), Veronica van Heyningen (57737), F. Lucy Raymond (6062462), David R. FitzPatrick (11273481), Susana R. Louros (5743778), Jilly Hope (113496), Laura C. Murphy (11273469), Hemant Bengani (425074), Detelina Grozeva (4799844), Jacqueline Rainger (555531), Peter Kind (239748), Magali Naville (668692), Shipra Bhatia (276505), Mihail Halachev (6444560)   +21 more
core   +1 more source

Shared dysregulation of complement and phosphorylation pathways in the cerebrospinal fluid of encephalitis, Aicardi–Goutières syndrome, and autism

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify shared and disorder‐specific molecular alterations across encephalitis, Aicardi–Goutières syndrome (AGS), and autism spectrum disorder (ASD) using cerebrospinal fluid (CSF) proteomics. Method In this cross‐sectional case–control study, mass‐spectrometry‐based proteomics was performed on archived CSF samples collected between ...
Omar H. Shadid, Peter G. Hains, Velda X. Han, Jingya Yan, Michael Griffiths, Ignatius Pang, Sushil Bandodkar, Phillip J. Robinson, Russell C. Dale   +8 more
wiley   +1 more source

A nonsense mutation in FMR1 causing fragile X syndrome

, 2010
Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1.
Brøndum-Nielsen, Karen, Dedic, Alma, Grønskov, Karen, Alma Dedic, Hjalgrim, Helle, Karen Grønskov, Helle Hjalgrim, Gronskov, Karen, Karen Brøndum-Nielsen   +8 more
core   +1 more source

Selective autophagy pathways in ageing and neurodegeneration: Emerging roles for mitophagy and nucleophagy

The FEBS Journal, EarlyView.
As we age, cells gradually accumulate damage, which can contribute to disease and neurodegeneration. This review explores how two cellular recycling processes, mitophagy and nucleophagy, remove damaged mitochondria and nuclear material, respectively, to maintain cell health and long‐term neuronal homeostasis.
Maria Markaki, Nektarios Tavernarakis
wiley   +1 more source

Cognitive Dysfunction in FMR1 Premutation Carriers [PDF]

Current Psychiatry Reviews, 2013
Premutation carriers of the fragile X mental retardation gene (especially men) older than 50 may develop a neurodegenerative disease, the fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers may present with varied cognitive impairments. Attention, working memory, declarative and procedural learning, information processing speed, and recall ...
Andreea, Seritan, Jennifer, Cogswell, Jim, Grigsby   +2 more
openaire   +2 more sources

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC

Journal of Translational Medicine
Background Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric ...
Yiqian Han, Chenxi Mao, Kangjie Zhou, Mingtong Liang, Luming Zhao, Yidong Hong, Jingzhou Zhang, Nan Hu, Fenglei Wu   +8 more
doaj   +1 more source

Atx2 and Fmr1 effects on HttQ128 toxicity depend on each other.

, 2019
Rhythmic power (P-S) is indicated for various genotypes including flies expressing HttQ0 (Pdf>HttQ0 in grey) or HttQ128 (Pdf>HttQ128 in blue) in PDF neurons in a TRiP RNAi library control background (TRiP Ctrl attP2) and expressing two independent Fmr1 ...
Ravi Allada (82380), Chunghun Lim (5169455), Elzbieta Kula-Eversole (5658388), Marta Iwanaszko (548134), Fangke Xu (7474448)   +4 more
core   +1 more source

Normal Performance of Fmr1 Mice on a Touchscreen Delayed Nonmatching to Position Working Memory Task [PDF]

, 2016
Fragile X syndrome is a neurodevelopmental disorder characterized by mild-to-severe cognitive deficits. The complete absence of Fmr1 and its protein product in the mouse model of fragile X (Fmr1 KO) provides construct validity.
Crawley, Jacqueline N, Pride, Michael, Silverman, Jill L, Hayes, Jane, Leach, Prescott T   +4 more
core   +1 more source