In honor of Bill Pak: my journey to the discovery of a rhodopsin gene [0.03%]
献给比尔·pak教授的报告：追寻视紫红质基因之旅
Joseph E O&#x;Tousa
Joseph E O&#x;Tousa
Barry Ganetzky
Barry Ganetzky
Clinical application of whole-exome sequencing analysis in childhood epilepsy [0.03%]
全外显子组测序在儿童癫痫临床应用分析
Meral Gavaz,Elif S Aslan,Selahattin Tekeş
Meral Gavaz
The swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in ...
The roles of blur and eye convergence in distance estimation in larval zebrafish [0.03%]
模糊和眼汇聚在斑马鱼幼虫距离估计中的作用
Biswadeep Khan,Julie Lee Semmelhack
Biswadeep Khan
Animals use an array of visual cues to gauge distance, and their underlying neural mechanisms remain largely unknown. Zebrafish larvae execute different hunting behaviors depending on distance to the prey, providing a simple model system in...
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 [0.03%]
由GARS1基因新的变异引起的遗传性先天共济失调病（CMT2D型）
Dora Varvara,Serena Lattante,Stefania Magri et al.
Dora Varvara et al.
Genetic variants in GARS1 gene, encoding for the glycyl tRNA synthetase 1, cause Charcot-Marie-Tooth disease, type 2D (CMT2D). Here we describe a 14-year-old boy affected by neuropathy with prominent weakness in the upper extremities carryi...
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey [0.03%]
土耳其东安纳托利亚地区儿科人群的癫痫遗传学
Oğuzhan Yarali,Özge Beyza Gündoğdu Öğütlü,Serdar Saritaş et al.
Oğuzhan Yarali et al.
This study investigates the genetic causes of epilepsy in 166 paediatric patients under the age of 16 from the East Anatolian region of Turkey, who were treated at Erzurum City Hospital between 2018 and 2023. Patients with early-onset seizu...
Targeted deletion of olfactory receptors in D. melanogaster via CRISPR/Cas9-mediated LexA knock-in [0.03%]
通过CRISPR / Cas9介导的LexA敲入在Drosophila中靶向删除嗅觉受体
Runqi Zhang,Renny Ng,Shiuan-Tze Wu et al.
Runqi Zhang et al.
The study of olfaction in Drosophila melanogaster has greatly benefited from genetic reagents such as olfactory receptor mutant lines and GAL4 reporter lines. The CRISPR/Cas9 gene-editing system has been increasingly used to create null rec...
Clinical potential of epigenetic and microRNA biomarkers in PTSD [0.03%]
表观遗传学和微小核糖核酸生物标志物在PTSD中的临床潜力
Nathan J Wellington,Ana P Boucas,Jim Lagopoulos et al.
Nathan J Wellington et al.
Molecular studies identifying alterations associated with PTSD have predominantly focused on candidate genes or conducted genome-wide analyses, often encountering issues with replicability. This review aims to identify robust bi-directional...
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy [0.03%]
SMN2、NAIP和GTF2H2基因的分子分析及与脊髓性肌萎缩临床亚型的关系研究
Nilgun Karasu,Hamit Acer,Hilal Akalin et al.
Nilgun Karasu et al.
SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the SMN1 gene. However, mutations in genes located in the SMA regi...