发布求助
文献互助 智能选刊 最新文献

Medizinische Genetik最新文献

筛选
英文 中文
Reduced penetrance in hereditary movement disorders. 遗传性运动障碍的外显率降低
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2132
Christine Klein, Frank Kaiser
{"title":"Reduced penetrance in hereditary movement disorders.","authors":"Christine Klein, Frank Kaiser","doi":"10.1515/medgen-2022-2132","DOIUrl":"10.1515/medgen-2022-2132","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"95"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44297771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism. 影响x连锁肌张力障碍-帕金森病外显率降低和可变表达的因素
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2135
Jelena Pozojevic, Björn-Hergen von Holt, Ana Westenberger
{"title":"Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism.","authors":"Jelena Pozojevic, Björn-Hergen von Holt, Ana Westenberger","doi":"10.1515/medgen-2022-2135","DOIUrl":"10.1515/medgen-2022-2135","url":null,"abstract":"<p><p>X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder that primarily affects adult Filipino men. It is caused by a founder retrotransposon insertion in <i>TAF1</i> that contains a hexanucleotide repeat, the number of which differs among the patients and correlates with the age at disease onset (AAO) and other clinical parameters. A recent work has identified additional genetic modifiers of age-associated penetrance in XDP, bringing to light the DNA mismatch repair genes <i>MSH3</i> and <i>PMS2</i>. Despite X-linked recessive inheritance, a minor subset of patients are female, manifesting the disease via various mechanisms such as homozygosity, imbalanced X-chromosome inactivation, or aneuploidy. Here, we summarize and discuss clinical and genetic aspects of XDP, with a focus on variable disease expressivity as a consequence of subtle genetic differences within a seemingly homogenous population of patients.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"97-102"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11007627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45330308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Staffelübergabe in der Redaktionsleitung. 主编交接
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2131
Markus M Nöthen, Reiner Siebert, Malte Spielmann, Dagmar Wieczorek, Johannes Zschocke
{"title":"Staffelübergabe in der Redaktionsleitung.","authors":"Markus M Nöthen, Reiner Siebert, Malte Spielmann, Dagmar Wieczorek, Johannes Zschocke","doi":"10.1515/medgen-2022-2131","DOIUrl":"10.1515/medgen-2022-2131","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"93-94"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110118/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45421461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example. 系统生物学方法在阐明外显率降低因素中的新作用:以thap1相关肌张力障碍的转录变化为例
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2126
Sokhna Haissatou Diaw, Fabian Ott, Alexander Münchau, Katja Lohmann, Hauke Busch
{"title":"Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in <i>THAP1</i>-linked dystonia as an example.","authors":"Sokhna Haissatou Diaw, Fabian Ott, Alexander Münchau, Katja Lohmann, Hauke Busch","doi":"10.1515/medgen-2022-2126","DOIUrl":"10.1515/medgen-2022-2126","url":null,"abstract":"<p><p>Pathogenic variants in <i>THAP1</i> can cause dystonia with a penetrance of about 50 %. The underlying mechanisms are unknown and can be considered as means of endogenous disease protection. Since <i>THAP1</i> encodes a transcription factor, drivers of this variability putatively act at the transcriptome level. Several transcriptome studies tried to elucidate THAP1 function in diverse cellular and mouse models, including mutation carrier-derived cells and iPSC-derived neurons, unveiling various differentially expressed genes and affected pathways. These include nervous system development, dopamine signalling, myelination, or cell-cell adhesion. A network diffusion analysis revealed mRNA splicing, mitochondria, DNA repair, and metabolism as significant pathways that may represent potential targets for therapeutic interventions.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"131-141"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45056624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular mechanisms defining penetrance of LRRK2-associated Parkinson's disease. LRRK2相关帕金森病外显率的分子机制
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2127
Joanne Trinh, Emma L Schymanski, Semra Smajic, Meike Kasten, Esther Sammler, Anne Grünewald
{"title":"Molecular mechanisms defining penetrance of <i>LRRK2</i>-associated Parkinson's disease.","authors":"Joanne Trinh, Emma L Schymanski, Semra Smajic, Meike Kasten, Esther Sammler, Anne Grünewald","doi":"10.1515/medgen-2022-2127","DOIUrl":"10.1515/medgen-2022-2127","url":null,"abstract":"<p><p>Mutations in <i>Leucine-rich repeat kinase 2</i> (<i>LRRK2</i>) are the most frequent cause of dominantly inherited Parkinson's disease (PD). <i>LRRK2</i> mutations, among which p.G2019S is the most frequent, are inherited with reduced penetrance. Interestingly, the disease risk associated with <i>LRRK2</i> G2019S can vary dramatically depending on the ethnic background of the carrier. While this would suggest a genetic component in the definition of <i>LRRK2</i>-PD penetrance, only few variants have been shown to modify the age at onset of patients harbouring <i>LRRK2</i> mutations, and the exact cellular pathways controlling the transition from a healthy to a diseased state currently remain elusive. In light of this knowledge gap, recent studies also explored environmental and lifestyle factors as potential modifiers of <i>LRRK2</i>-PD. In this article, we (i) describe the clinical characteristics of <i>LRRK2</i> mutation carriers, (ii) review known genes linked to <i>LRRK2</i>-PD onset and (iii) summarize the cellular functions of <i>LRRK2</i> with particular emphasis on potential penetrance-related molecular mechanisms. This section covers <i>LRRK2</i>'s involvement in Rab GTPase and immune signalling as well as in the regulation of mitochondrial homeostasis and dynamics. Additionally, we explored the literature with regard to (iv) lifestyle and (v) environmental factors that may influence the penetrance of <i>LRRK2</i> mutations, with a view towards further exposomics studies. Finally, based on this comprehensive overview, we propose potential future <i>in vivo</i>, <i>in vitro</i> and <i>in silico</i> studies that could provide a better understanding of the processes triggering PD in individuals with <i>LRRK2</i> mutations.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"103-116"},"PeriodicalIF":0.8,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46893663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reduced penetrance of Parkinson's disease models. 帕金森病模型外显率降低
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2138
Vanessa A Morais, Melissa Vos
{"title":"Reduced penetrance of Parkinson's disease models.","authors":"Vanessa A Morais, Melissa Vos","doi":"10.1515/medgen-2022-2138","DOIUrl":"10.1515/medgen-2022-2138","url":null,"abstract":"<p><p>The etiology and progression of Parkinson's Disease (PD), the second most prevalent neurological disorder, have been widely investigated for several decades; however, a cure is still lacking. Despite the development of several neurotoxins and animal models to study this rather heterogeneous disease, a complete recapitulation of the neurophysiology and neuropathology of PD has not been fully achieved. One underlying cause for this could be that mutations in PD-associated genes have reduced penetrance. Therefore, the quest for novel PD models is required where a double hit approach needs to be evoked - a combination of genetic alterations and environmental factors need to be accounted for in one unique model simultaneously.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"117-124"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41383057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Konstituierende Versammlung der Jungen Humangenetik. 青年人类遗传学的组成部分
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2129
Ilona Krey, Robert Meyer
{"title":"Konstituierende Versammlung der Jungen Humangenetik.","authors":"Ilona Krey, Robert Meyer","doi":"10.1515/medgen-2022-2129","DOIUrl":"10.1515/medgen-2022-2129","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"183"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41584050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systematic review of Mendelian randomization studies on Parkinson's disease. 帕金森病孟德尔随机化研究的系统综述
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2139
Sophia Kappen, Daniele Bottigliengo, Amke Caliebe, Fabiola Del Greco M, Inke R König
{"title":"Systematic review of Mendelian randomization studies on Parkinson's disease.","authors":"Sophia Kappen, Daniele Bottigliengo, Amke Caliebe, Fabiola Del Greco M, Inke R König","doi":"10.1515/medgen-2022-2139","DOIUrl":"10.1515/medgen-2022-2139","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is known to be associated with non-genetic factors. To infer causality, Mendelian randomization (MR) studies are increasingly used. Here, genetic variants are used as instrumental variables for the risk factor but have no direct effect on PD themselves.</p><p><strong>Methods: </strong>We performed a systematic literature review on MR studies for PD. Studies were identified searching the PubMed database. Upon data extraction, we evaluated the methodological quality and summarized the evidence.</p><p><strong>Results: </strong>Twelve articles were included. Most studies showed \"good\" methodological quality, but most did not report proper power estimations. Twelve analyses yielded nominally significant effects.</p><p><strong>Conclusions: </strong>Our systematic review shows that most MR studies were well performed and allow to identify causal exposures, which may inform further studies on the prevention and early intervention of PD.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"143-150"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006297/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49152163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Die Neuen Gesichter der Berliner Geschäftsstelle. 柏林办事处的新面孔。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2136
Anja Rössler
{"title":"Die Neuen Gesichter der Berliner Geschäftsstelle.","authors":"Anja Rössler","doi":"10.1515/medgen-2022-2136","DOIUrl":"10.1515/medgen-2022-2136","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"197"},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11007625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67025373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders. 孕前携带者筛查作为新生儿严重隐性疾病筛查前的替代生殖选择
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2123
Sabine Rudnik-Schöneborn, Klaus Zerres
{"title":"Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.","authors":"Sabine Rudnik-Schöneborn, Klaus Zerres","doi":"10.1515/medgen-2022-2123","DOIUrl":"10.1515/medgen-2022-2123","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"157-161"},"PeriodicalIF":0.8,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47062875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
首页 上一页 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