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
Frontmatter 头版头条
4区 生物学
Medizinische Genetik Pub Date : 2023-06-01 DOI: 10.1515/medgen-2023-frontmatter2
{"title":"Frontmatter","authors":"","doi":"10.1515/medgen-2023-frontmatter2","DOIUrl":"https://doi.org/10.1515/medgen-2023-frontmatter2","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134967959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aufbau eines neuen Patientenregisters für Gorlin-Goltz-Syndrom. Gorlin-Goltz综合征新患者登记表的建立
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2007
Franziska Schnabel
{"title":"Aufbau eines neuen Patientenregisters für Gorlin-Goltz-Syndrom.","authors":"Franziska Schnabel","doi":"10.1515/medgen-2023-2007","DOIUrl":"10.1515/medgen-2023-2007","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"79-80"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45097295","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
New insights from genetic studies of eczema. 湿疹基因研究的新见解
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2010
Ingo Marenholz, Aleix Arnau-Soler, Oscar Daniel Rosillo-Salazar, Young-Ae Lee
{"title":"New insights from genetic studies of eczema.","authors":"Ingo Marenholz, Aleix Arnau-Soler, Oscar Daniel Rosillo-Salazar, Young-Ae Lee","doi":"10.1515/medgen-2023-2010","DOIUrl":"10.1515/medgen-2023-2010","url":null,"abstract":"<p><p>Genome-wide association studies (GWAS) provided fundamental insight into the genetic determinants of complex allergic diseases. For eczema, 58 susceptibility loci were reported. Protein-changing variants were associated with eczema at genome-wide significance at 12 loci. The majority of risk variants were, however, located in non-coding, regulatory regions of the genome. Prioritized target genes were enriched in pathways of the immune response and of epithelial barrier function. Interestingly, a large overlap in the genetic architecture underlying different allergic diseases was identified pointing to common pathomechanisms for eczema, asthma, hay fever, and food allergy. Here, we review the most recent findings from GWAS for eczema including the role of rare variants and genetic heterogeneity in ethnically diverse populations. In addition, we provide an overview of genes underlying Mendelian disorders featuring eczematous skin inflammation.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"33-45"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43655018","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
Recent advances in the genetics of alopecia areata. 斑秃遗传学研究进展
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2004
F Buket Basmanav, Regina C Betz
{"title":"Recent advances in the genetics of alopecia areata.","authors":"F Buket Basmanav, Regina C Betz","doi":"10.1515/medgen-2023-2004","DOIUrl":"10.1515/medgen-2023-2004","url":null,"abstract":"<p><p>Alopecia areata (AA) is a common autoimmune-mediated hair loss disorder in humans with an estimated lifetime risk of approximately 2 %. Episodes of hair loss usually begin with isolated hairless patches that may progress to complete hair loss over the entire body. A familial occurrence of AA is well established, with recurrence risks of about 6-8 % in first-degree relatives. AA is a multifactorial disorder involving both environmental and genetic risk factors. Previous research has identified 14 susceptibility loci, most of which implicate genes involved in the immune response. The following review presents a summary of the latest findings from genome-wide association, sequencing and gene expression studies of AA, as well as their contribution to the recent therapeutic developments.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"15-22"},"PeriodicalIF":0.8,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43680226","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
Dermatological diseases from a genetic perspective. 从遗传学角度看皮肤病
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2009
Regina C Betz, Ulrike Hüffmeier
{"title":"Dermatological diseases from a genetic perspective.","authors":"Regina C Betz, Ulrike Hüffmeier","doi":"10.1515/medgen-2023-2009","DOIUrl":"10.1515/medgen-2023-2009","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"1-2"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48645581","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
Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology. 男性型脱发:综合鉴定相关基因作为理解病理生理学的基础
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2003
Sabrina K Henne, Markus M Nöthen, Stefanie Heilmann-Heimbach
{"title":"Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology.","authors":"Sabrina K Henne, Markus M Nöthen, Stefanie Heilmann-Heimbach","doi":"10.1515/medgen-2023-2003","DOIUrl":"10.1515/medgen-2023-2003","url":null,"abstract":"<p><p>Male-pattern hair loss (MPHL) is a highly heritable and prevalent condition that is characterized by progressive hair loss from the frontotemporal and vertex scalp. This androgen-dependent hair loss may commence during puberty, and up to 80 % of European men experience some degree of MPHL during their lifetime. Current treatment options for MPHL have limited efficacy, and improved understanding of the underlying biological causes is required to facilitate novel therapeutic approaches. To date, molecular genetic studies have identified 389 associated genomic regions, have implicated numerous genes in these regions, and suggested pathways that are likely to contribute to key pathophysiological mechanisms in MPHL. This review provides an overview of the current status of MPHL genetic research. We discuss the most significant achievements, current challenges, and anticipated developments in the field, as well as their potential to advance our understanding of hair (loss) biology, and to improve hair loss prediction and treatment.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"3-14"},"PeriodicalIF":0.8,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46590524","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 underpinnings of the psoriatic spectrum. 银屑病谱系的遗传基础
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2005
Ulrike Hüffmeier, Janine Klima, Mohammad Deen Hayatu
{"title":"Genetic underpinnings of the psoriatic spectrum.","authors":"Ulrike Hüffmeier, Janine Klima, Mohammad Deen Hayatu","doi":"10.1515/medgen-2023-2005","DOIUrl":"10.1515/medgen-2023-2005","url":null,"abstract":"<p><p>The psoriatic field includes both rare and common subtypes. Common complex forms include psoriasis vulgaris and psoriatic arthritis. In these subtypes, certain <i>HLA</i> alleles remain the most relevant genetic factors, although genome-wide association studies lead to the detection of more than 80 susceptibility loci. They mainly affect innate and adaptive immunity and explain over 28 % of the heritability. Pustular psoriasis comprises a group of rarer subtypes. Using exome sequencing, several disease genes were identified for mainly generalized pustular psoriasis, and an oligogenic inheritance is likely. Treatment studies based on the affected IL-36 pathway indicate a high response rate in this subtype further supporting the pathophysiological relevance of the affected gene products.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"46-54"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46306345","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
Holger Höhn zum 80. Geburtstag und der mühsame Beginn der Humangenetik in Würzburg vor mehr als 40 Jahren. 霍尔格·霍恩80岁。40多年前维尔茨堡的生日和人类遗传学的艰难开端
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2001
Tiemo Grimm, Klaus Zerres
{"title":"Holger Höhn zum 80. Geburtstag und der mühsame Beginn der Humangenetik in Würzburg vor mehr als 40 Jahren.","authors":"Tiemo Grimm, Klaus Zerres","doi":"10.1515/medgen-2023-2001","DOIUrl":"10.1515/medgen-2023-2001","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"55-60"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10841906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46389264","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. Eberhard Schwinger. Eberhard-Schwinger医学博士讣告
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2002
Gabriele Gillessen-Kaesbach
{"title":"Nachruf Prof. Dr. med. Eberhard Schwinger.","authors":"Gabriele Gillessen-Kaesbach","doi":"10.1515/medgen-2023-2002","DOIUrl":"10.1515/medgen-2023-2002","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"61-62"},"PeriodicalIF":1.1,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47437202","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
Syndromic ichthyoses. 综合征性鱼鳞病
IF 0.8 4区 生物学
Medizinische Genetik Pub Date : 2023-04-05 eCollection Date: 2023-04-01 DOI: 10.1515/medgen-2023-2006
Judith Fischer, Alrun Hotz, Katalin Komlosi
{"title":"Syndromic ichthyoses.","authors":"Judith Fischer, Alrun Hotz, Katalin Komlosi","doi":"10.1515/medgen-2023-2006","DOIUrl":"10.1515/medgen-2023-2006","url":null,"abstract":"<p><p>Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are further defined on the basis of clinical and genetic features and can be divided into non-syndromic and syndromic forms. To date, mutations in more than 30 genes are known to result in various types of syndromic ichthyoses, which, in addition to mostly generalised scaling and hyperkeratosis of the skin, also show additional organ involvement. The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance, and can be further subdivided according to the predominant symptoms. In our review we provide a concise overview of the most prevalent syndromic forms of ichthyosis within each subgroup. We emphasize the importance of the clinical assessment of complex syndromes even in the era of genetic testing as a first-tier diagnostic and specifically the need to actively assess potential organ involvement in patients with ichthyosis, thereby enabling efficient diagnostic and therapeutic approaches and timely access to specialized centers for rare disorders of cornifications. As part of the Freiburg Center for Rare Diseases a Center for Cornification Disorders was recently established with collaboration of the Institute of Human Genetics and the Department of Dermatology. An early diagnosis of syndromes will be of direct benefit to the patient regarding interventional and therapeutic measures e. g. in syndromes with cardiac or metabolic involvement and allows informed reproductive options and access to prenatal and preimplantation genetic diagnosis in the family.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"23-32"},"PeriodicalIF":0.8,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48573593","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