Journal of neurogenetics最新文献_第8页

A rapid molecular diagnostic method for spinal muscular atrophy. 脊髓性肌萎缩症的快速分子诊断方法。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2021-03-01 Epub Date: 2020-12-17 DOI: 10.1080/01677063.2020.1853721

Kai-Chen Wang, Chiao-Yuan Fang, Chi-Chang Chang, Chien-Kuan Chiang, Yi-Wen Chen

{"title":"A rapid molecular diagnostic method for spinal muscular atrophy.","authors":"Kai-Chen Wang, Chiao-Yuan Fang, Chi-Chang Chang, Chien-Kuan Chiang, Yi-Wen Chen","doi":"10.1080/01677063.2020.1853721","DOIUrl":"https://doi.org/10.1080/01677063.2020.1853721","url":null,"abstract":"Spinal muscular atrophy (SMA) is a common autosomal recessive disorder which has been considered as the second common cause of infant death, with an estimated prevalence of 1 in 10,000 live births. The disorder is caused by survival motor neuron 1 gene (SMN1) deficiency leading to limb weakness, difficult swallowing and abnormal breathing. Here, a fast and accurate method for SMA detection has been developed. Genomic DNA sample collected from whole blood, amniotic fluid, or dried blood spots can be analysed by using the Clarity™ Digital PCR (dPCR) System for determining the copy numbers of SMN1 and SMN2 genes. Two hundred and fourteen clinical samples determined by qPCR-based method were enrolled and used to establish the cut-off ranges for unaffected individual, SMA carrier and SMA patient categories. After setting the cut-off range for each group, 12 samples were analyzed by both dPCR-based method and MLPA (multiplex ligation-dependent probe amplification), the current testing golden standard for SMA, and 100% concordant results between the two testing methods were performed. CSB SMA Detection Kit combined with dPCR platform provides a robust and precise approach to distinguish unaffected individuals, SMA carrier and SMA patients. This rapid molecular diagnostic method can be adapted to pre-pregnancy eugenics inspection, prenatal testing as well as newborns screening and help physicians or genetic counselors to improve population SMA incidence.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"35 1","pages":"29-32"},"PeriodicalIF":1.9,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/01677063.2020.1853721","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38725268","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: 5

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy. 双等位基因ZNF335突变导致基底节区异常伴进行性脑/小脑萎缩。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2021-03-01 Epub Date: 2020-11-20 DOI: 10.1080/01677063.2020.1833006

Ahmet Okay Caglayan, Kourosh Yaghouti, Tanyel Kockaya, Demet Kemer, Tufan Cankaya, Najim Ameziane, Ozgur Cogulu, Mahmut Coker, Cengiz Yalcinkaya

引用次数: 4

Analysis of whole genome sequenced cases and controls shows that the association of variants in TOMM40, BCAM, NECTIN2 and APOC1 with late onset Alzheimer's disease is driven by linkage disequilibrium with APOE ε2/ε3/ε4 alleles. 对全基因组测序病例和对照组的分析表明，TOMM40、BCAM、NECTIN2 和 APOC1 中的变异与晚发性阿尔茨海默病的关联是由与 APOE ε2/ε3/ε4 等位基因的连锁不平衡驱动的。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2021-03-01 Epub Date: 2021-05-10 DOI: 10.1080/01677063.2020.1866569

David Curtis

{"title":"Analysis of whole genome sequenced cases and controls shows that the association of variants in TOMM40, BCAM, NECTIN2 and APOC1 with late onset Alzheimer's disease is driven by linkage disequilibrium with APOE ε2/ε3/ε4 alleles.","authors":"David Curtis","doi":"10.1080/01677063.2020.1866569","DOIUrl":"10.1080/01677063.2020.1866569","url":null,"abstract":"Variants in APOE are associated with risk of late onset Alzheimer's disease (LOAD) but the magnitude of the effect has been reported to vary across ancestries. Also, other variants in the region have been reported to show association though it has been unclear whether this was secondary to their linkage disequilibrium with the APOE variants rs429358 and rs7412. Previous analyses of exome-sequenced samples have identified other genes in which rare variants impact risk of disease. In this study 2000 whole genome sequenced cases and controls with different ancestries were subjected to gene-based weighted burden analysis to identify risk genes. Additionally, individual variants in the APOE region were tested for association with LOAD. When using the APOE variants as covariates no individual genes showed statistically significant evidence for association after Bonferroni correction for multiple testing, which may well be a consequence of the modest sample size. Likewise, for those variants initially showing evidence of association with LOAD incorporating the APOE variants as covariates dramatically reduced the strength of association. These results demonstrate that the differential association of APOE across ancestries does not appear to be driven by another variant in the region. It seems likely that no other genes in the region have a direct effect on LOAD risk.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"35 2","pages":"59-66"},"PeriodicalIF":1.9,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38977590","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

Identification and characterization of GAL4 drivers that mark distinct cell types and regions in the Drosophila adult gut. 在果蝇成年肠道中标记不同细胞类型和区域的GAL4驱动因子的鉴定和表征。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2021-03-01 Epub Date: 2020-12-16 DOI: 10.1080/01677063.2020.1853722

Seung Yeon Lim, Hyejin You, Jinhyeong Lee, Jaejin Lee, Yoojin Lee, Kyung-Ah Lee, Boram Kim, Ji-Hoon Lee, JiHyeon Jeong, Sooin Jang, Byoungsoo Kim, Hyungjun Choi, Gayoung Hwang, Min Sung Choi, Sung-Eun Yoon, Jae Young Kwon, Won-Jae Lee, Young-Joon Kim, Greg S B Suh

{"title":"Identification and characterization of GAL4 drivers that mark distinct cell types and regions in the Drosophila adult gut.","authors":"Seung Yeon Lim, Hyejin You, Jinhyeong Lee, Jaejin Lee, Yoojin Lee, Kyung-Ah Lee, Boram Kim, Ji-Hoon Lee, JiHyeon Jeong, Sooin Jang, Byoungsoo Kim, Hyungjun Choi, Gayoung Hwang, Min Sung Choi, Sung-Eun Yoon, Jae Young Kwon, Won-Jae Lee, Young-Joon Kim, Greg S B Suh","doi":"10.1080/01677063.2020.1853722","DOIUrl":"https://doi.org/10.1080/01677063.2020.1853722","url":null,"abstract":"The gastrointestinal tract in the adult Drosophila serves as a model system for exploring the mechanisms underlying digestion, absorption and excretion, stem cell plasticity, and inter-organ communication, particularly through the gut-brain axis. It is also useful for studying the cellular and adaptive responses to dietary changes, alterations in microbiota and immunity, and systematic and endocrine signals. Despite the various cell types and distinct regions in the gastrointestinal tract, few tools are available to target and manipulate the activity of each cell type and region, and their gene expression. Here, we report 353 GAL4 lines and several split-GAL4 lines that are expressed in enteric neurons (ENs), progenitors (ISCs and EBs), enterocytes (ECs), enteroendocrine cells (EEs), or/and other cell types that are yet to be identified in distinct regions of the gut. We had initially collected approximately 600 GAL4 lines that may be expressed in the gut based on RNA sequencing data, and then crossed them to UAS-GFP to perform immunohistochemistry to identify those that are expressed selectively in the gut. The cell types and regional expression patterns that are associated with the entire set of GAL4 drivers and split-GAL4 combinations are annotated online at http://kdrc.kr/index.php (K-Gut Project). This GAL4 resource can be used to target specific populations of distinct cell types in the fly gut, and therefore, should permit a more precise investigation of gut cells that regulate important biological processes.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"35 1","pages":"33-44"},"PeriodicalIF":1.9,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/01677063.2020.1853722","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38379238","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: 7

A journey to 'tame a small metazoan organism', ^‡ seen through the artistic eyes of C. elegans researchers. 从 elegans 研究人员的艺术视角看 "驯服小型后生动物 "之旅‡。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-09-01 Epub Date: 2020-12-08 DOI: 10.1080/01677063.2020.1839449

Eleni Gourgou, Alexandra R Willis, Sebastian Giunti, Maria J De Rosa, Amanda G Charlesworth, Mirella Hernandez Lima, Elizabeth Glater, Sonja Soo, Bianca Pereira, Kübra Akbaş, Anushka Deb, Madhushree Kamak, Mark W Moyle, Annika Traa, Aakanksha Singhvi, Surojit Sural, Eugene Jennifer Jin

引用次数: 4

Nature's gift to neuroscience. 大自然给神经科学的礼物

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-09-01 DOI: 10.1080/01677063.2020.1841760

Joy Alcedo, Yishi Jin, Douglas S Portman, Veena Prahlad, David Raizen, Georgia Rapti, X Z Shawn Xu, Yun Zhang, Chun-Fang Wu

引用次数: 1

Studying neural circuits of decision-making in Drosophila larva. 果蝇幼虫决策神经回路的研究。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-03-01 Epub Date: 2020-02-13 DOI: 10.1080/01677063.2020.1719407

Tihana Jovanic

引用次数: 3

Studying complex brain dynamics using Drosophila. 用果蝇研究复杂的大脑动力学。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-03-01 Epub Date: 2019-12-26 DOI: 10.1080/01677063.2019.1706092

Sophie Aimon, Ilona C Grunwald Kadow

引用次数: 4

Understanding neurobehavioral genetics of zebrafish. 了解斑马鱼的神经行为遗传学。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-03-01 Epub Date: 2020-01-05 DOI: 10.1080/01677063.2019.1698565

Sergey V Cheresiz, Andrey D Volgin, Alexandra Kokorina Evsyukova, Alim A O Bashirzade, Konstantin A Demin, Murilo S de Abreu, Tamara G Amstislavskaya, Allan V Kalueff

{"title":"Understanding neurobehavioral genetics of zebrafish.","authors":"Sergey V Cheresiz, Andrey D Volgin, Alexandra Kokorina Evsyukova, Alim A O Bashirzade, Konstantin A Demin, Murilo S de Abreu, Tamara G Amstislavskaya, Allan V Kalueff","doi":"10.1080/01677063.2019.1698565","DOIUrl":"https://doi.org/10.1080/01677063.2019.1698565","url":null,"abstract":"Due to its fully sequenced genome, high genetic homology to humans, external fertilization, fast development, transparency of embryos, low cost and active reproduction, the zebrafish (Danio rerio) has become a novel promising model organism in biomedicine. Zebrafish are a useful tool in genetic and neuroscience research, including linking various genetic mutations to brain mechanisms using forward and reverse genetics. These approaches have produced novel models of rare genetic CNS disorders and common brain illnesses, such as addiction, aggression, anxiety and depression. Genetically modified zebrafish also foster neuroanatomical studies, manipulating neural circuits and linking them to different behaviors. Here, we discuss recent advances in neurogenetics of zebrafish, and evaluate their unique strengths, inherent limitations and the rapidly growing potential for elucidating the conserved roles of genes in neuropsychiatric disorders.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"34 2","pages":"203-215"},"PeriodicalIF":1.9,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/01677063.2019.1698565","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37511775","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: 13

The Unc13A isoform is important for phasic release and olfactory memory formation at mushroom body synapses. un13a异构体在蘑菇体突触的相释放和嗅觉记忆形成中起重要作用。

IF 1.9 4区医学

Journal of neurogenetics Pub Date : 2020-03-01 Epub Date: 2020-01-24 DOI: 10.1080/01677063.2019.1710146

Jennifer Woitkuhn, Anatoli Ender, Christine B Beuschel, Marta Maglione, Tanja Matkovic-Rachid, Sheng Huang, Martin Lehmann, Joerg R P Geiger, Stephan J Sigrist

{"title":"The Unc13A isoform is important for phasic release and olfactory memory formation at mushroom body synapses.","authors":"Jennifer Woitkuhn, Anatoli Ender, Christine B Beuschel, Marta Maglione, Tanja Matkovic-Rachid, Sheng Huang, Martin Lehmann, Joerg R P Geiger, Stephan J Sigrist","doi":"10.1080/01677063.2019.1710146","DOIUrl":"https://doi.org/10.1080/01677063.2019.1710146","url":null,"abstract":"The cellular analysis of mushroom body (MB)-dependent memory forming processes is far advanced, whereas, the molecular and physiological understanding of their synaptic basis lags behind. Recent analysis of the Drosophila olfactory system showed that Unc13A, a member of the M(Unc13) release factor family, promotes a phasic, high release probability component, while Unc13B supports a slower tonic release component, reflecting their different nanoscopic positioning within individual active zones. We here use STED super-resolution microscopy of MB lobe synapses to show that Unc13A clusters closer to the active zone centre than Unc13B. Unc13A specifically supported phasic transmission and short-term plasticity of Kenyon cell:output neuron synapses, measured by combining electrophysiological recordings of output neurons with optogenetic stimulation. Knockdown of unc13A within Kenyon cells provoked drastic deficits of olfactory aversive short-term and anaesthesia-sensitive middle-term memory. Knockdown of unc13B provoked milder memory deficits. Thus, a low frequency domain transmission component is probably crucial for the proper representation of memory-associated activity patterns, consistent with sparse Kenyon cell activation during memory acquisition and retrieval. Notably, Unc13A/B ratios appeared highly diversified across MB lobes, leaving room for an interplay of activity components in memory encoding and retrieval.","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"34 1","pages":"106-114"},"PeriodicalIF":1.9,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/01677063.2019.1710146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37577409","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: 4