发布求助
文献互助 智能选刊 最新文献

Journal of neurogenetics最新文献

筛选
英文 中文
Vitamin D receptor FokI polymorphism as a risk factor for painful diabetic neuropathy in type 2 diabetes mellitus patients.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-03-12 DOI: 10.1080/01677063.2025.2473705
Aurelia Vania, Dewa Putu Gde Purwa Samatra, I Made Oka Adnyana, Made Ratna Saraswati, Agus Eka Darwinata, I Putu Eka Widyadharma
{"title":"Vitamin D receptor FokI polymorphism as a risk factor for painful diabetic neuropathy in type 2 diabetes mellitus patients.","authors":"Aurelia Vania, Dewa Putu Gde Purwa Samatra, I Made Oka Adnyana, Made Ratna Saraswati, Agus Eka Darwinata, I Putu Eka Widyadharma","doi":"10.1080/01677063.2025.2473705","DOIUrl":"https://doi.org/10.1080/01677063.2025.2473705","url":null,"abstract":"<p><p>Painful diabetic neuropathy (PDN) is a common complication in patients with type 2 diabetes mellitus (T2DM) with disruption of vitamin D (VD) activity as one of the risk factors. Active VD exerts its biological functions through the vitamin D receptor (VDR), which polymorphisms in the VDR gene can impair. This study aims to establish VDR FokI and ApaI polymorphisms as risk factors for PDN. This case-control study used samples from T2DM patients with and without PDN. Neuropathic pain was diagnosed using the DN4 questionnaire, while FokI and ApaI polymorphisms were examined using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method. Other factors examined included gender, hypertension, current insulin use, obesity, HbA1c levels, and dyslipidemia. A total of 64 subjects were involved in the study. The FokI polymorphism (CT+TT genotype) was a significant risk factor for PDN (OR 4.20; 95% CI [1.47-11.94]; <i>p</i> = 0.012). The T allele in the FokI polymorphism significantly increased the risk of PDN by 2.8 times (OR 2.78; 95% CI [1.28-6.01], <i>p</i> = 0.014). The ApaI polymorphism was not significantly associated with PDN. Diabetes duration ≥4.5 years and uncontrolled diabetes were other significant risk factors for PDN. Multivariate analysis identified three significant variables: FokI polymorphism (OR 5.00; 95% CI [1.37-18.24], <i>p</i> = 0.015), insulin use (OR 4.95; 95% CI [1.37-17.87], <i>p</i> = 0.015), and uncontrolled diabetes (OR 3.47; 95% CI [1.03-11.69], <i>p</i> = 0.045). The VDR FokI polymorphism with the T allele is a significant genetic risk factor for PDN in T2DM patients. The VDR ApaI polymorphism was not a significant risk factor for PDN.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-9"},"PeriodicalIF":1.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605212","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
Venerose: a nuptial gift with implications.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-03-06 DOI: 10.1080/01677063.2025.2473095
Deepanshu N D Singh, Matthias Soller
{"title":"Venerose: a nuptial gift with implications.","authors":"Deepanshu N D Singh, Matthias Soller","doi":"10.1080/01677063.2025.2473095","DOIUrl":"https://doi.org/10.1080/01677063.2025.2473095","url":null,"abstract":"<p><p>Males transfer many components in seminal fluid along with sperm during mating. While sex peptide is well established as a key regulator of female reproductive behaviour and success, the roles of other seminal fluid components remain less understood. A new <i>Drosophila</i> study now reveals functions for a sexually transmitted sugar in providing nutritional value and acting on nutrient-sensing neurons in the brain to maximize reproductive success. Here, we highlight the key findings of this study and explore the potential role of this sugar in male quality assessment by females and in modulation of cryptic female choice.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567412","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
Two tales of therapeutic innovations for Leigh syndrome spectrum. 两个关于莉氏综合症谱系治疗创新的故事。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-03-06 DOI: 10.1080/01677063.2025.2473087
Wei-Sheng Lin
{"title":"Two tales of therapeutic innovations for Leigh syndrome spectrum.","authors":"Wei-Sheng Lin","doi":"10.1080/01677063.2025.2473087","DOIUrl":"https://doi.org/10.1080/01677063.2025.2473087","url":null,"abstract":"<p><p>Leigh syndrome spectrum is the most common form of childhood-onset mitochondrial encephalopathy and is characterized by progressive neurodegeneration. Treatment options for this condition remain limited to date. Nonetheless, two lines of research endeavor in the past decade have shown encouraging results worthy of further investigations. First, therapeutic hypoxia appears to improve neurological outcomes, which is somewhat counterintuitive but supported by preclinical evidence. Furthermore, nicotinic acid or nicotinamide riboside could be an adjunctive therapy that enhances the neuroprotective effect of hypoxia. Second, preclinical studies and preliminary clinical experience suggest that sildenafil is potentially disease-modifying for Leigh syndrome. Sildenafil has already been used to treat pulmonary hypertension, and its repurposing for Leigh syndrome has been endorsed by European Medicines Agency. This perspective aims to raise awareness about these progresses, as well as to call for more clinical studies to ensure safe and effective implementation of these treatment approaches in clinical practice.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573281","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
Drosophila WDFY3/Bchs overexpression impairs neural function.
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-02-25 DOI: 10.1080/01677063.2025.2465536
Marek B Körner, Akhil Velluva, Linnaeus Bundalian, Knut Krohn, Kathleen Schön, Isabell Schumann, Jessica Kromp, Andreas S Thum, Antje Garten, Julia Hentschel, Rami Abou Jamra, Achmed Mrestani, Nicole Scholz, Tobias Langenhan, Diana Le Duc
{"title":"<i>Drosophila WDFY3</i>/<i>Bchs</i> overexpression impairs neural function.","authors":"Marek B Körner, Akhil Velluva, Linnaeus Bundalian, Knut Krohn, Kathleen Schön, Isabell Schumann, Jessica Kromp, Andreas S Thum, Antje Garten, Julia Hentschel, Rami Abou Jamra, Achmed Mrestani, Nicole Scholz, Tobias Langenhan, Diana Le Duc","doi":"10.1080/01677063.2025.2465536","DOIUrl":"https://doi.org/10.1080/01677063.2025.2465536","url":null,"abstract":"<p><p>Pathogenic variants in <i>WDFY3</i>, a gene encoding for an autophagy adaptor termed ALFY, are linked to neurodevelopmental delay and altered brain size in human probands. While the role of <i>WDFY3</i> loss-of-function is extensively studied in neurons, little is known about the effects of <i>WDFY3</i> upregulation in different cell types of the central nervous system (CNS). We show that overexpression of the <i>Drosophila melanogaster WDFY3</i> ortholog, <i>Bchs</i>, in either glia or neurons impaired autophagy and locomotion. <i>Bchs</i> glial overexpression also increased VNC size and glial nuclei number significantly, whereas neuronal <i>Bchs</i> overexpression affected wing and thorax morphology. We identified 79 genes that were differentially expressed and overlapped in flies that overexpress <i>Bchs</i> in glial and neuronal cells, respectively. Additionally, upon neuronal <i>Bchs</i> overexpression differentially expressed genes clustered in gene ontology categories associated with autophagy and mitochondrial function. Our data indicate that glial as well as neuronal <i>Bchs</i> upregulation can have detrimental outcomes on neural function.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-16"},"PeriodicalIF":1.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143502064","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 novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease. 新的T107I遗传朊病毒疾病可以作为家族性阿尔茨海默病的临床和生物标志物模拟。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2025-01-09 DOI: 10.1080/01677063.2024.2440395
Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead
{"title":"The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.","authors":"Leah Holm-Mercer, Thomas Coysh, Tze How Mok, Peter Rudge, Zita Reisz, Claire Troakes, Safa Al-Sarraj, Tracy Campbell, Laszlo L P Hosszu, Jan Bieschke, Fuquan Zhang, Jonathan D F Wadsworth, Colin Smith, Jenna Jenkinson, Timothy Rittman, Sebastian Brandner, Zane Jaunmuktane, John Collinge, Simon Mead","doi":"10.1080/01677063.2024.2440395","DOIUrl":"https://doi.org/10.1080/01677063.2024.2440395","url":null,"abstract":"<p><p>Inherited prion diseases (IPD) secondary to mutations of the prion protein gene, <i>PRNP,</i> exhibit diverse clinical phenotypes, capable of mimicking numerous primary neurodegenerative conditions. We describe the clinical phenotype and neuropathological findings in a family from County Limerick in Ireland presenting with Alzheimer's disease-like cognitive decline and motor symptoms caused by a novel missense mutation of <i>PRNP.</i> This mutation occurs in the <i>PRNP</i> central lysine cluster (CLC; codon 101-110), resulting in substitution of threonine with isoleucine at codon 107 (T107I). This case series highlights that IPD can be hard to distinguish from overlapping clinical syndromes seen in other neurodegenerative diseases. We also discuss similarities and differences of the novel mutation T107I to other pathogenic mutations of the CLC of <i>PRNP</i>.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950278","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. 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 : 2024-12-02 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 pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways. Bill Pak 率先利用 PDA 表型筛选光传导基因网络和相关信号通路。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-19 DOI: 10.1080/01677063.2024.2335146
Baruch Minke
{"title":"The pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways.","authors":"Baruch Minke","doi":"10.1080/01677063.2024.2335146","DOIUrl":"10.1080/01677063.2024.2335146","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"150-156"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419576","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
Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam. 白威廉博士（William L. Pak, PhD.，1932-2023：悼念）的个人随笔：一个菜鸟与比尔-白及其遗产的旅程：关于 PI-PLC、NorpA 和环嗜血素 NinaA 的故事和观点。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-06-24 DOI: 10.1080/01677063.2024.2366455
Paulo A Ferreira
{"title":"Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam.","authors":"Paulo A Ferreira","doi":"10.1080/01677063.2024.2366455","DOIUrl":"10.1080/01677063.2024.2366455","url":null,"abstract":"<p><p>The neurogenetics and vision community recently mourned William L. Pak, PhD, whose pioneering work spearheaded the genetic, electrophysiological, and molecular bases of biological processes underpinning vision. This essay provides a historical background to the daunting challenges and personal experiences that carved the path to seminal findings. It also reflects on the intellectual framework, mentoring philosophy, and inspirational legacy of Bill Pak's research. An emphasis and perspectives are placed on the discoveries and implications to date of the phosphatidylinositol-specific phospholipase C (PI-PLC), NorpA, and the cyclophilin, NinaA of the fruit fly, <i>Drosophila melanogaster</i>, and their respective mammalian homologues, PI-PLCβ4, and cyclophilin-related protein, Ran-binding protein 2 (Ranbp2) in critical biological processes and diseases of photoreceptors and other neurons.</p>","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"165-174"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446376","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
Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on Drosophila neurobiology. 致敬威廉·l·帕克博士和冷泉港果蝇神经生物学暑期课程的起源。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-12-30 DOI: 10.1080/01677063.2024.2448092
Chun-Fang Wu
{"title":"Tribute to Dr. William L. Pak and the origins of the Cold Spring Harbor summer course on <i>Drosophila</i> neurobiology.","authors":"Chun-Fang Wu","doi":"10.1080/01677063.2024.2448092","DOIUrl":"https://doi.org/10.1080/01677063.2024.2448092","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":"38 4","pages":"135"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950277","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 tribute to Bill Pak, unsung hero of neurogenetics. 向神经遗传学的无名英雄比尔-帕克致敬。
IF 1.8 4区 医学
Journal of neurogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-22 DOI: 10.1080/01677063.2024.2380297
Barry Ganetzky
{"title":"A tribute to Bill Pak, unsung hero of neurogenetics.","authors":"Barry Ganetzky","doi":"10.1080/01677063.2024.2380297","DOIUrl":"10.1080/01677063.2024.2380297","url":null,"abstract":"","PeriodicalId":16491,"journal":{"name":"Journal of neurogenetics","volume":" ","pages":"145-149"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748442","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
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信