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
Polygenic risk scores in epilepsy. 癫痫多基因风险评分
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2146
Henrike O Heyne
{"title":"Polygenic risk scores in epilepsy.","authors":"Henrike O Heyne","doi":"10.1515/medgen-2022-2146","DOIUrl":"10.1515/medgen-2022-2146","url":null,"abstract":"<p><p>An epilepsy diagnosis has large consequences for an individual but is often difficult to make in clinical practice. Novel biomarkers are thus greatly needed. Here, we give an overview of how thousands of common genetic factors that increase the risk for epilepsy can be summarized as epilepsy polygenic risk scores (PRS). We discuss the current state of research on how epilepsy PRS can serve as a biomarker for the risk for epilepsy. The high heritability of common forms of epilepsy, particularly genetic generalized epilepsy, indicates a promising potential for epilepsy PRS in diagnosis and risk prediction. Small sample sizes and low ancestral diversity of current epilepsy genome-wide association studies show, however, a need for larger and more diverse studies before epilepsy PRS could be properly implemented in the clinic.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46745742","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
Ankündigung Jahrestagung 2023: Grußwort der Tagungspräsidentin. 2023年年会公告
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2150
{"title":"Ankündigung Jahrestagung 2023: Grußwort der Tagungspräsidentin.","authors":"","doi":"10.1515/medgen-2022-2150","DOIUrl":"10.1515/medgen-2022-2150","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49669612","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
Rückblende GfH-Jahrestagung 2022. 2022年闪电年
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2155
Anja Rössler
{"title":"Rückblende GfH-Jahrestagung 2022.","authors":"Anja Rössler","doi":"10.1515/medgen-2022-2155","DOIUrl":"10.1515/medgen-2022-2155","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48851856","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
Nachruf Prof. Dr. med. Herbert Theile (1930–2022). Herbert Theile博士（1930-2022）
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2152
{"title":"Nachruf Prof. Dr. med. Herbert Theile (1930–2022).","authors":"","doi":"10.1515/medgen-2022-2152","DOIUrl":"10.1515/medgen-2022-2152","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45593150","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
[Non-directivity as a guiding category in human genetic counselling in a historical perspective]. 从历史的角度看非定向性作为人类遗传咨询的主导范畴
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2148
F Söhner, V Rolfes, W Hofmann, K Zerres, H Fangerau, M Krischel
{"title":"[Non-directivity as a guiding category in human genetic counselling in a historical perspective].","authors":"F Söhner, V Rolfes, W Hofmann, K Zerres, H Fangerau, M Krischel","doi":"10.1515/medgen-2022-2148","DOIUrl":"10.1515/medgen-2022-2148","url":null,"abstract":"<p><p>In this article we describe and analyse the issue of non-directivity in human genetic counselling in Germany between 1970 and 2010 based on printed sources and oral history interviews. The focus is on the extent to which the ethical aspects in genetic counselling were debated among human geneticists and to what extent aspects of non-directivity were discussed.As the results show, it was not only in retrospect that experts attributed great importance to the autonomy of those seeking advice and rejected \"directive\" advice, at least in public positions. They considered ethical justification to be central here.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43753091","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
Genetic testing in adults with developmental and epileptic encephalopathy - what do we know? 发育性和癫痫性脑病成年人的基因检测——我们知道什么？
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2144
Ilona Krey, Kathrine M Johannesen, Oona Kohnen, Johannes R Lemke
{"title":"Genetic testing in adults with developmental and epileptic encephalopathy - what do we know?","authors":"Ilona Krey, Kathrine M Johannesen, Oona Kohnen, Johannes R Lemke","doi":"10.1515/medgen-2022-2144","DOIUrl":"10.1515/medgen-2022-2144","url":null,"abstract":"<p><p>Knowledge of underlying genetic causes of developmental and epileptic encephalopathies (DEE) in adults is still limited when compared to the routine diagnostic approach in similarly affected children. A well-documented longitudinal study of adults with DEE is of utmost importance to understand the natural history of the respective entity. This information is of great value especially for genetic counselling of newly diagnosed children with identical genetic diagnoses and may impact treatment and management of affected individuals. In our meta-analysis we provide an overview of the most recurrent genetic findings across an adult DEE cohort (<math><mi>n</mi><mo>=</mo><mn>1</mn><mo>,</mo><mn>020</mn></math>). The gene mostly associated with a pathogenic or likely pathogenic variant in adult DEE is <i>SCN1A</i>, followed by <i>MECP2</i> and <i>CHD2</i>. Studies employing exome sequencing and calling of both single nucleotide variants and copy number variants are associated with diagnostic yields of almost 50 %. Finally, we highlight three remarkable cases, each representing the oldest individual ever published with their genetic diagnosis, i. e., Angelman syndrome, Miller-Dieker syndrome, and <i>CAMK2A</i>-related disorder, and describe lessons learned from each of these adults.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46078916","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
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders. 遗传运动障碍外显率降低的临床相关性和转化影响
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2128
Sebastian Heinzel, Deborah Mascalzoni, Tobias Bäumer, Daniela Berg, Meike Kasten, Norbert Brüggemann
{"title":"Clinical relevance and translational impact of reduced penetrance in genetic movement disorders.","authors":"Sebastian Heinzel, Deborah Mascalzoni, Tobias Bäumer, Daniela Berg, Meike Kasten, Norbert Brüggemann","doi":"10.1515/medgen-2022-2128","DOIUrl":"10.1515/medgen-2022-2128","url":null,"abstract":"<p><p>Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with an overt disease. Clinical expressivity, on the other hand, describes the degree to which certain disease characteristics are present. In this article, we discuss the implications of reduced penetrance on genetic testing and counseling, outline how penetrance can be estimated in rare diseases using large cohorts and review the ethical, legal and social implications of studying non-manifesting carriers of pathogenic mutations. We highlight the interplay between reduced penetrance and the prodromal phase of a neurodegenerative disorder through the example of monogenic Parkinson's disease and discuss the therapeutic implications.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43496751","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
Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders. 患者来源的细胞-运动障碍降低外显率研究的不可替代的工具
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2133
Philip Seibler, Aleksandar Rakovic
{"title":"Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders.","authors":"Philip Seibler, Aleksandar Rakovic","doi":"10.1515/medgen-2022-2133","DOIUrl":"10.1515/medgen-2022-2133","url":null,"abstract":"<p><p>Movement disorders comprise a clinically, pathologically, and genetically heterogeneous group of diseases associated with the phenomenon of reduced penetrance. Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. Elucidating the cause of reduced penetrance may contribute to more personalized medicine by identifying genetic factors that may prevent individuals from developing disease. Therefore, patient material becomes an irreplaceable resource in this approach. It is needed to identify genetic modifiers of the disease in the first place and to subsequently elucidate underlying mechanisms in endogenous human cell models that provide the entire genetic background.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42973586","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
Es erreichen uns viele Fragen zu den geplanten FBREK Zentren. 我们收到了许多关于计划中的FBREK中心的问题
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2124
{"title":"Es erreichen uns viele Fragen zu den geplanten FBREK Zentren.","authors":"","doi":"10.1515/medgen-2022-2124","DOIUrl":"10.1515/medgen-2022-2124","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44347110","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":null,"pages":null},"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
首页 上一页
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