Understanding pathophysiology in fragile X syndrome: a comprehensive review [0.03%]
脆性X综合征发病机制的研究进展综述
Juan Carlos Castillo Juárez,Alejandro Aguilar Gómez,Adrian Esteban Salatino Díaz et al.
Juan Carlos Castillo Juárez et al.
Fragile X syndrome (FXS) is the leading hereditary cause of intellectual disability and the most commonly associated genetic cause of autism. Historically, research into its pathophysiology has focused predominantly on neurons; however, eme...
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine [0.03%]
表观遗传失调在胶质母细胞瘤中的作用及精确医疗的潜在途径
Vijeta Prakash,Reema Gabrani
Vijeta Prakash
The emerging field of epigenetics has been driving glioblastoma multiforme (GBM) development and progression. Various epigenetic alterations involving tumor suppressor genes, oncogenes, and signaling pathways have been identified in GBM. Th...
Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene [0.03%]
CHD8基因变异所致自闭症谱系障碍表型和基因型数据的扩展
Mariia A Parfenenko,Ilya S Dantsev,Sergei V Bochenkov et al.
Mariia A Parfenenko et al.
Autism spectrum disorders are a group of the most common disorders of neuropsychiatric development, characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns. This group of conditions frequently co...
Álvaro de Oliveira Franco,Matheus Bernardon Morillos,Martim Tobias Bravo Leite et al.
Álvaro de Oliveira Franco et al.
Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A...
Case Reports
Neurogenetics. 2024 Nov 22;26(1):3. DOI:10.1007/s10048-024-00780-w 2024
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants [0.03%]
杜氏肌营养不良症患者数据作为妊娠前女性人口筛查DMD基因变异解释的指南
Lena Sagi-Dain,Annemieke Aartsma-Rus,Moran Echar et al.
Lena Sagi-Dain et al.
Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpretation and disclosure of these findings. Our objective was to analyze data from a local dystrop...
Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family [0.03%]
介绍一种新的TRAPPC10基因变异体作为潜在的发展迟缓和伊朗家族智障的原因
Ahoura Nozari,Paria Babaahmadi,Narges Jalilian et al.
Ahoura Nozari et al.
Background: TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more ...
Case Reports
Neurogenetics. 2024 Nov 19;26(1):1. DOI:10.1007/s10048-024-00785-5 2024
Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China [0.03%]
灵活的综合社区治疗模式对我国南方地区精神分裂症患者社区康复的影响研究
Yinglin Zhao,Shaoxiong Zheng,Handi Zhang et al.
Yinglin Zhao et al.
Schizophrenia is a group of severe mental illnesses of unknown etiology, most of which are slow or subacute in young adults. 160 adult schizophrenic patients were randomly divided into an intervention group given FACT and a control group gi...
Randomized Controlled Trial
Neurogenetics. 2024 Oct;25(4):481-486. DOI:10.1007/s10048-024-00778-4 2024
Mohamed J Saadh,Anfal Nabeel Mustafa,Mohammed Ahmed Mustafa et al.
Mohamed J Saadh et al.
The emerging function of short-chain fatty acids (SCFAs) in Parkinson's disease (PD) has been investigated in this article. SCFAs, which are generated via the fermentation of dietary fiber by gut microbiota, have been associated with dysfun...
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs) [0.03%]
解开神经发育障碍（NDD）中的三维基因组结构
P Carballo-Pacoret,A Carracedo,C Rodriguez-Fontenla
P Carballo-Pacoret
The human genome, comprising millions of pairs of bases, serves as the blueprint of life, encoding instructions for cellular processes. However, genomes are not merely linear sequences; rather, the complex of DNA and histones, known as chro...
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex [0.03%]
韩国结节性硬化症患者的基因型和表型分析
Hui Jin Shin,Sangbo Lee,Se Hee Kim et al.
Hui Jin Shin et al.
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our unde...
Observational Study
Neurogenetics. 2024 Oct;25(4):471-479. DOI:10.1007/s10048-024-00777-5 2024