Results 31 to 40 of about 74,276 (234)

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes

Frontiers in Neuroscience, 2019
Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex.
Juan Xiong, Juan Xiong, Shimeng Chen, Shimeng Chen, Nan Pang, Nan Pang, Xiaolu Deng, Xiaolu Deng, Lifen Yang, Lifen Yang, Fang He, Fang He, Liwen Wu, Liwen Wu, Chen Chen, Chen Chen, Fei Yin, Fei Yin, Jing Peng, Jing Peng   +19 more
doaj   +1 more source

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

Frontiers in Pediatrics, 2022
Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder.
Juan Xiong, Juan Xiong, Zhonghua Liu, Shimeng Chen, Shimeng Chen, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Haolin Duan, Haolin Duan, Xiaolu Deng, Xiaolu Deng, Lifen Yang, Lifen Yang, Jing Peng, Jing Peng, Fei Yin, Fei Yin   +18 more
doaj   +1 more source

Navigating new norms: a systematic review of factors for the development of effective digital tools in higher education

FEBS Open Bio, EarlyView.
What factors make for an effective digital learning tool in Higher Education? This systematic review identifies elements of a digital tool that published examples reveal to be features of an engaging and impactful digital tool. A systematic literature search yielded 25 research papers for analysis.
Akmal Arzeman, Jessica Haines, Connie Pritchard, Stephen Rutherford, Nigel Francis   +4 more
wiley   +1 more source

Alzheimer’s disease brain contains tau fractions with differential prion-like activities

Acta Neuropathologica Communications, 2021
Neurofibrillary tangles (NFTs) made of abnormally hyperphosphorylated tau are a hallmark of Alzheimer’s disease (AD) and related tauopathies. Regional distribution of NFTs is associated with the progression of the disease and has been proposed to be a ...
Longfei Li, Ruirui Shi, Jianlan Gu, Yunn Chyn Tung, Yan Zhou, Dingwei Zhou, Ruozhen Wu, Dandan Chu, Nana Jin, Kevin Deng, Jiawei Xu, Cheng-Xin Gong, Khalid Iqbal, Fei Liu   +13 more
doaj   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Microarray Analysis Reveals Higher Gestational Folic Acid Alters Expression of Genes in the Cerebellum of Mice Offspring—A Pilot Study

Brain Sciences, 2015
Folate is a water-soluble vitamin that is critical for nucleotide synthesis and can modulate methylation of DNA by altering one-carbon metabolism. Previous studies have shown that folate status during pregnancy is associated with various congenital ...
Subit Barua, Salomon Kuizon, Kathryn K. Chadman, W. Ted Brown, Mohammed A. Junaid   +4 more
doaj   +1 more source

Intellectual Disability and Potassium Channelopathies: A Systematic Review

Frontiers in Genetics, 2020
Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi, Miriam Kessi, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Jing Peng, Jing Peng, Yulin Tang, Yulin Tang, Eleonore Olatoutou, Eleonore Olatoutou, Fang He, Fang He, Lifen Yang, Lifen Yang, Fei Yin, Fei Yin   +17 more
doaj   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Tau seeding activity in various regions of down syndrome brain assessed by two novel assays

Acta Neuropathologica Communications, 2022
Propagation of tau pathology via the seeding of naive tau aggregation underlies the progression of Alzheimer’s disease (AD) and related tauopathies. Individuals with Down syndrome (DS) develop tau pathology at the fourth decade of life, but tau seeding ...
Nana Jin, Jianlan Gu, Ruozhen Wu, Dandan Chu, Yunn Chyn Tung, Jerzy Wegiel, Thomas Wisniewski, Cheng-Xin Gong, Khalid Iqbal, Fei Liu   +9 more
doaj   +1 more source

Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Mark Baker, Nicola Pavese   +7 more
wiley   +1 more source