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Medizinische Genetik最新文献

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Ankündigung der 2. DACH-Tagung für Seltene Erkrankungen Grußwort der Tagungsleitung: 24.-25. September 2026, Bonn. 2号公告。美国疾病控制与预防中心，第24 -25页。2026年9月，波恩。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2051
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引用次数: 0
Genetics of CAKUT. CAKUT基因。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2053
Alina C Hilger, Rik Westland, Julia Hoefele
{"title":"Genetics of CAKUT.","authors":"Alina C Hilger, Rik Westland, Julia Hoefele","doi":"10.1515/medgen-2025-2053","DOIUrl":"https://doi.org/10.1515/medgen-2025-2053","url":null,"abstract":"<p><p>Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"3-10"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222012","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 kidney diseases - from discovery to precision care. 遗传性肾病——从发现到精准治疗。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2049
Matias Simons, Julia Hoefele
{"title":"Genetic kidney diseases - from discovery to precision care.","authors":"Matias Simons, Julia Hoefele","doi":"10.1515/medgen-2025-2049","DOIUrl":"https://doi.org/10.1515/medgen-2025-2049","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"1-2"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222043","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
Tagungsbericht Syndromtag vom 12.-13.09.2025 in Essen: Was uns das Exom verschweigt. 2010年9月12日至13日，在德国埃森举行的Syndromtag会议报告：Was uns das Exom verswigt。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2047
{"title":"Tagungsbericht Syndromtag vom 12.-13.09.2025 in Essen: Was uns das Exom verschweigt.","authors":"","doi":"10.1515/medgen-2025-2047","DOIUrl":"https://doi.org/10.1515/medgen-2025-2047","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"55-56"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910338/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222048","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
The kidney in genetic metabolic disorders. 遗传代谢紊乱中的肾脏。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2044
Ulla T Schultheiss, Anke Schumann
{"title":"The kidney in genetic metabolic disorders.","authors":"Ulla T Schultheiss, Anke Schumann","doi":"10.1515/medgen-2025-2044","DOIUrl":"https://doi.org/10.1515/medgen-2025-2044","url":null,"abstract":"<p><p>Genetic metabolic kidney diseases arise from (likely) pathogenic variants affecting kidney metabolism, causing progressive kidney dysfunction. Symptoms include but are not restricted to nephrolithiasis, proteinuria, kidney failure, and extrarenal manifestations. Genetic testing in combination with metabolic profiling aids early diagnosis and personalized management strategies, which may include enzyme replacement, dietary changes, and kidney-related therapies. Advances in gene therapy and precision medicine offer hope for better outcomes. Early diagnosis and intervention are key to improving prognosis and quality of life, emphasizing the importance of advancing combined metabolic/genetic testing and treatment approaches.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"39-50"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222034","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
Tagungsbericht GfH-Juniorakademie 2025: Junge Humangenetik auf Schloss Buchenau: Austausch, Vernetzung und neue Perspektiven. GfH-Juniorakademi会议报告2025：布chenau城堡的青年人类遗传学：交流、网络和新视角。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2048
Isabell Schumann, Hanna Salchow, Simone Ahting, Maike Karnstedt, Robert Meyer, Debora Tibbe, Ilona Krey-Grauert, Anna Schaffeldt, Helene Faust, Daniel Pieh
{"title":"Tagungsbericht GfH-Juniorakademie 2025: Junge Humangenetik auf Schloss Buchenau: Austausch, Vernetzung und neue Perspektiven.","authors":"Isabell Schumann, Hanna Salchow, Simone Ahting, Maike Karnstedt, Robert Meyer, Debora Tibbe, Ilona Krey-Grauert, Anna Schaffeldt, Helene Faust, Daniel Pieh","doi":"10.1515/medgen-2025-2048","DOIUrl":"https://doi.org/10.1515/medgen-2025-2048","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"53-54"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222051","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
Eine nationale Datenbank ist wichtig!: Zum Stand der HGQN-Variantendatenbank. 国家数据库很重要。：关于HGQN变体数据库的状态。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2026-2002
{"title":"Eine nationale Datenbank ist wichtig!: Zum Stand der HGQN-Variantendatenbank.","authors":"","doi":"10.1515/medgen-2026-2002","DOIUrl":"https://doi.org/10.1515/medgen-2026-2002","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"83-85"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146221982","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
Jahresberichte 2025 aus den GfH-Kommissionen und GfH-Arbeitskreisen. GfH委员会和GfH工作组的2025年年度报告。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2026-2001
Alma Küchler
{"title":"Jahresberichte 2025 aus den GfH-Kommissionen und GfH-Arbeitskreisen.","authors":"Alma Küchler","doi":"10.1515/medgen-2026-2001","DOIUrl":"https://doi.org/10.1515/medgen-2026-2001","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"61-78"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222041","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
Tätigkeitsbeschreibung für Genetische Fachberater in der interprofessionellen Zusammenarbeit mit Fachärzten für Humangenetik/Medizinische Genetik. 与人类遗传学/医学遗传学专家进行专业间合作的遗传学专家活动描述。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2052
{"title":"Tätigkeitsbeschreibung für Genetische Fachberater in der interprofessionellen Zusammenarbeit mit Fachärzten für Humangenetik/Medizinische Genetik.","authors":"","doi":"10.1515/medgen-2025-2052","DOIUrl":"https://doi.org/10.1515/medgen-2025-2052","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"79-81"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222059","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 Humangenetik ist Präzisionsmedizin, sie braucht eine angepasste Bedarfsplanung. 人类遗传学是一门精确的医学，需要量身定制的需求规划。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-11-08 eCollection Date: 2025-11-01 DOI: 10.1515/medgen-2025-2040
{"title":"Die Humangenetik ist Präzisionsmedizin, sie braucht eine angepasste Bedarfsplanung.","authors":"","doi":"10.1515/medgen-2025-2040","DOIUrl":"10.1515/medgen-2025-2040","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 4","pages":"349"},"PeriodicalIF":1.4,"publicationDate":"2025-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12594446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483644","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
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