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In honor of Bill Pak: my journey to the discovery of a rhodopsin gene.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-26 DOI: 10.1080/01677063.2024.2443599
Joseph E O'Tousa
{"title":"In honor of Bill Pak: my journey to the discovery of a rhodopsin gene.","authors":"Joseph E O'Tousa","doi":"10.1080/01677063.2024.2443599","DOIUrl":"https://doi.org/10.1080/01677063.2024.2443599","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895548","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
Special section in honor of William L. Pak, a neurogenetics pioneer.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-26 DOI: 10.1080/01677063.2024.2443189
Barry Ganetzky
{"title":"Special section in honor of William L. Pak, a neurogenetics pioneer.","authors":"Barry Ganetzky","doi":"10.1080/01677063.2024.2443189","DOIUrl":"https://doi.org/10.1080/01677063.2024.2443189","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-2"},"PeriodicalIF":1.8,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895549","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
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
IF 1.8 4区 医学
Journal of neurogenetics Pub 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":"https://doi.org/10.1080/01677063.2024.2434869","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2024-12-09","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
Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-02 DOI: 10.1080/01677063.2024.2419107
Randall Shortridge
{"title":"Enthusiasm meets opportunity: in memoriam of William L. Pak, 1932-2023.","authors":"Randall Shortridge","doi":"10.1080/01677063.2024.2419107","DOIUrl":"https://doi.org/10.1080/01677063.2024.2419107","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-2"},"PeriodicalIF":1.8,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769846","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
The roles of blur and eye convergence in distance estimation in larval zebrafish.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 DOI: 10.1080/01677063.2024.2432033
Biswadeep Khan, Julie Lee Semmelhack
{"title":"The roles of blur and eye convergence in distance estimation in larval zebrafish.","authors":"Biswadeep Khan, Julie Lee Semmelhack","doi":"10.1080/01677063.2024.2432033","DOIUrl":"https://doi.org/10.1080/01677063.2024.2432033","url":null,"abstract":"<p><p>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 which to study this process. To identify distance cues, we presented equivalent prey stimuli at increasing distance and recorded hunting behaviors. We found that the initial convergence angle was lower for more distant prey, suggesting that they are able to gauge distance to the prey via monocular cues. We investigated blur as a possible monocular cue, and found that by artificially blurring the stimulus, we were able to reduce initial convergence and strike probability. This implicates blur as a distance cue in zebrafish prey capture, adds to our knowledge of how larvae are able to visually target and accurately capture prey.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769847","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
A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1. 一种家族性夏科-玛丽-牙病（2d 型），由一种以前从未报道过的 GARS1 变异体引起。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-11-26 DOI: 10.1080/01677063.2024.2428949
Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro
{"title":"A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in <i>GARS1</i>.","authors":"Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro","doi":"10.1080/01677063.2024.2428949","DOIUrl":"https://doi.org/10.1080/01677063.2024.2428949","url":null,"abstract":"<p><p>Genetic variants in <i>GARS1</i> 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 carrying two <i>in cis</i> missense variants in <i>GARS1</i> gene: the c.803C > T, p.Thr268Ile and the c.842T > A, p.Met281Lys. The mutated allele segregates in affected member of the family, thus supporting its pathogenic role. Although a combined role of these variants cannot be excluded, we suggest a strong association of the variant c.842T > A (p.Met281Lys), never reported in patients neither in controls, with the disease. In Italian patients, pathogenic variants in <i>GARS1</i> are very rare, so our result expands the mutational spectrum of the gene and the genetic epidemiology of CMT2D.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729262","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
The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of Drosophila. 冷泉港实验室果蝇神经生物学暑期课程的最初几年。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-11-04 DOI: 10.1080/01677063.2024.2393315
W L Pak
{"title":"The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of <i>Drosophila</i>.","authors":"W L Pak","doi":"10.1080/01677063.2024.2393315","DOIUrl":"https://doi.org/10.1080/01677063.2024.2393315","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.8,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567062","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
Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985. CSHL 夏季果蝇神经生物学课程早年回忆录：1984-1985 年。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-09-02 DOI: 10.1080/01677063.2024.2393884
Ralph J Greenspan
{"title":"Memoir of the early years of the CSHL summer <i>Drosophila</i> neurobiology course: 1984-1985.","authors":"Ralph J Greenspan","doi":"10.1080/01677063.2024.2393884","DOIUrl":"https://doi.org/10.1080/01677063.2024.2393884","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108251","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
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 1.8 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
{"title":"Targeted deletion of olfactory receptors in <i>D. melanogaster</i> via CRISPR/Cas9-mediated LexA knock-in.","authors":"Runqi Zhang, Renny Ng, Shiuan-Tze Wu, Chih-Ying Su","doi":"10.1080/01677063.2024.2426014","DOIUrl":"10.1080/01677063.2024.2426014","url":null,"abstract":"<p><p>The study of olfaction in <i>Drosophila melanogaster</i> 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 receptor mutants or replace coding regions with GAL4 reporters. To further expand this toolkit for manipulating fly olfactory receptor neurons (ORNs), we generated null alleles for 11 different olfactory receptors by using CRISPR/Cas9 to knock in LexA drivers, including multiple lines for receptors which have thus far lacked knock-in mutants. The targeted neuronal types represent a broad range of antennal ORNs from all four morphological sensillum classes. Additionally, we confirmed their loss-of-function phenotypes, assessed receptor haploinsufficiency, and evaluated the specificity of the LexA knock-in drivers. These receptor mutant lines have been deposited at the Bloomington <i>Drosophila</i> Stock Center for use by the broader scientific community.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"122-133"},"PeriodicalIF":1.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11617259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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 1.8 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 <i>Drosophila</i>: 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":"<p><p>Egg-laying is one of the key aspects of female reproductive behavior in insects. Egg-laying has been studied since the dawn of <i>Drosophila melanogaster</i> 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. <i>fruitless</i> and <i>doublesex</i>, 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 <i>Drosophila</i> species can provide intriguing avenues for the future of the field.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"47-61"},"PeriodicalIF":1.8,"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
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