Journal of neurogenetics最新文献_第5页

A memorial piece of my experience with Bill Pak. 我与比尔-帕克的一段纪念经历。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-08-20 DOI: 10.1080/01677063.2024.2391887

Mamiko Ozaki

引用次数: 0

Clinical application of whole-exome sequencing analysis in childhood epilepsy. 全外显子组测序分析在儿童癫痫中的临床应用。

IF 2 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-09 DOI: 10.1080/01677063.2024.2434869

Meral Gavaz, Elif S Aslan, Selahattin Tekeş

{"title":"Clinical application of whole-exome sequencing analysis in childhood epilepsy.","authors":"Meral Gavaz, Elif S Aslan, Selahattin Tekeş","doi":"10.1080/01677063.2024.2434869","DOIUrl":"10.1080/01677063.2024.2434869","url":null,"abstract":"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 pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this study. All patients underwent evaluation by a clinical geneticist or pediatric neurologist and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Out of the 40 patients, 12 (30%) received a genetic diagnosis, involving 14 mutations across 13 genes. The cumulative positive diagnostic yield was 30%. Twelve of these patients were identified to have 5 variants previously documented as pathogenic, 9 variants classified as likely pathogenic, and 5 novel variants that have not been reported before. The outcomes indicate that whole-exome sequencing offers great benefits in clinical patient diagnosis, particularly in terms of detecting diagnostic variants. This study underscored the significance of whole exome sequencing (WES) studies, where only a broad gene set is examined in epilepsy patients. This approach has the potential to establish gene-specific phenotypic profiles, particularly by uncovering novel candidate genes in epilepsy patients with well-defined phenotypes. Additionally, conducting validation studies on variants of uncertain clinical significance could enhance the outcome yield.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"187-194"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

In honor of Bill Pak: my journey to the discovery of a rhodopsin gene. 为了纪念比尔·帕克：我发现视紫红质基因的旅程。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-26 DOI: 10.1080/01677063.2024.2443599

Joseph E O'Tousa

引用次数: 0

Special section in honor of William L. Pak, a neurogenetics pioneer. 特别纪念威廉·l·帕克，神经遗传学先驱。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-26 DOI: 10.1080/01677063.2024.2443189

Barry Ganetzky

引用次数: 0

Tribute to Dr. William L. Pak. 向白威廉博士致敬。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-19 DOI: 10.1080/01677063.2024.2366468

Hiroyuki Matsumoto

引用次数: 0

Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023. 热情邂逅机遇：纪念威廉·l·帕克，1932-2023。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-02 DOI: 10.1080/01677063.2024.2419107

Randall Shortridge

引用次数: 0

My recollections of the good old days in the Pak lab. 我回忆起在帕克实验室的美好时光。

IF 1.8 4区医学

Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-30 DOI: 10.1080/01677063.2024.2445902

Chun-Fang Wu

引用次数: 0

Targeted deletion of olfactory receptors in D. melanogaster via CRISPR/Cas9-mediated LexA knock-in. 通过 CRISPR/Cas9 介导的 LexA 基因敲入，靶向删除黑腹蝇中的嗅觉受体。

IF 2 4区医学

Journal of neurogenetics Pub Date : 2024-09-01 Epub Date: 2024-11-11 DOI: 10.1080/01677063.2024.2426014

Runqi Zhang, Renny Ng, Shiuan-Tze Wu, Chih-Ying Su

引用次数: 0

Neurobiology of egg-laying behavior in Drosophila: neural control of the female reproductive system. 果蝇产卵行为的神经生物学：雌性生殖系统的神经控制。

IF 2 4区医学

Journal of neurogenetics Pub Date : 2024-09-01 Epub Date: 2024-09-09 DOI: 10.1080/01677063.2024.2396352

Mehrnaz Afkhami

{"title":"Neurobiology of egg-laying behavior in Drosophila: neural control of the female reproductive system.","authors":"Mehrnaz Afkhami","doi":"10.1080/01677063.2024.2396352","DOIUrl":"10.1080/01677063.2024.2396352","url":null,"abstract":"Egg-laying is one of the key aspects of female reproductive behavior in insects. Egg-laying has been studied since the dawn of Drosophila melanogaster as a model organism. The female's internal state, hormones, and external factors, such as nutrition, light, and social environment, affect egg-laying output. However, only recently, neurobiological features of egg-laying behavior have been studied in detail. fruitless and doublesex, two key players in the sex determination pathway, have become focal points in identifying neurons of reproductive significance in both central and peripheral nervous systems. The reproductive tract and external terminalia house sensory neurons that carry the sensory information of egg maturation, mating and egg-laying. These sensory signals include the presence of male accessory gland products and mechanical stimuli. The abdominal neuromere houses neurons that receive information from the reproductive tract, including sex peptide abdominal ganglion neurons (SAGs), and send their information to the brain. In the brain, neuronal groups like aDNs and pC1 clusters modulate egg-laying decision-making, and other neurons like oviINs and oviDNs are necessary for egg-laying itself. Lastly, motor neurons involved in egg-laying, which are mostly octopaminergic, reside in the abdominal neuromere and orchestrate the muscle movements required for laying the egg. Egg-laying neuronal control is important in various evolutionary processes like cryptic female choice, and using different Drosophila species can provide intriguing avenues for the future of the field.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"47-61"},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142154399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey. 土耳其东安纳托利亚地区儿科人群的癫痫遗传学。

IF 2 4区医学

Journal of neurogenetics Pub Date : 2024-09-01 Epub Date: 2024-11-17 DOI: 10.1080/01677063.2024.2424777

Oğuzhan Yarali, Özge Beyza Gündoğdu Öğütlü, Serdar Saritaş, Mustafa Can Guler, Filiz Keskin, Ayberk Türkyilmaz

{"title":"Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.","authors":"Oğuzhan Yarali, Özge Beyza Gündoğdu Öğütlü, Serdar Saritaş, Mustafa Can Guler, Filiz Keskin, Ayberk Türkyilmaz","doi":"10.1080/01677063.2024.2424777","DOIUrl":"10.1080/01677063.2024.2424777","url":null,"abstract":"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 seizures, a family history of epilepsy or intellectual disability was selected for genetic analysis using a next-generation sequencing (NGS) gene panel targeting 449 genes associated with epilepsy and epileptic encephalopathy. The analysis revealed that pathogenic or probable pathogenic mutations were present in 14.8% (32 patients), highlighting the significant role of genetic factors in the aetiology of epilepsy in this population. In addition, 30.6% (66 patients) carried variants of uncertain significance (VUS), which, although not classified as pathogenic, have potential clinical relevance. Many epilepsy-related genes follow an autosomal dominant inheritance pattern, meaning that VUSs may gain pathogenic significance as more data and global studies accumulate, emphasising the evolving nature of genetic research. In addition to genetic factors, other aetiological causes such as perinatal insults (15.3%) and infections (7.9%) were identified, highlighting the multifactorial origin of epilepsy. While pathogenic mutations currently serve as important diagnostic and therapeutic markers, the role of VUS should not be underestimated. Genetic testing has proven to be essential for understanding the complex causes of epilepsy, providing opportunities for personalised treatment and genetic counselling. This study highlights the importance of genetic testing in regions such as Eastern Anatolia, where both environmental and genetic factors may influence the prevalence of epilepsy. As genetic databases expand, it is likely that the understanding of VUS will evolve, improving the clinical management of epilepsy through more targeted therapies and improved outcomes.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"112-121"},"PeriodicalIF":2.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142646355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0