Medizinische Genetik最新文献_第2页

Editorial - Patient perspectives on new therapies for genetic diseases. 社论-患者对遗传疾病新疗法的看法。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2018

Miriam Elbracht, Christiane Zweier, Ilona Krey-Grauert

引用次数: 0

Protokoll der 37. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 03.04.2025 anlässlich der 35. GfH-Jahrestagung in Innsbruck, 02.-04.04.2025. 第37号决议。德国人类遗传学学会普通会员大会将于2025年4月3日举行。GfH年会于2025年4月2日至4日在因斯布鲁克举行。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2020

引用次数: 0

Save the Date - BVDH Herbsttagung 2025. 保存日期- BVDH Herbsttagung 2025。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2023

引用次数: 0

Berlin: Prof. Dr. med. Martin A. Mensah - Humangenetik am Helios Klinikum Berlin-Buch und Professur für Humangenetik an der MSB Medical School Berlin. 柏林：Martin A. Mensah教授，柏林赫利俄斯诊所人类遗传学教授，柏林MSB医学院人类遗传学教授。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2013

Martin Mensah

引用次数: 0

Humangenetik-Promotionspreise 2025. Humangenetik-Promotionspreise 2025 .

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2017

引用次数: 0

A clinician's guide to AAV production - How manufacturing platforms shape vector properties. AAV生产的临床医生指南-制造平台如何塑造矢量属性。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2024

Jørgen Magnus, Jonas Käsbach

引用次数: 0

Cardiac arrhythmias and genetics - current stage. 心律失常和遗传学-当前阶段。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2006

Schulze-Bahr, Sven Dittmann, Janis Kerkering

{"title":"Cardiac arrhythmias and genetics - current stage.","authors":"Schulze-Bahr, Sven Dittmann, Janis Kerkering","doi":"10.1515/medgen-2025-2006","DOIUrl":"10.1515/medgen-2025-2006","url":null,"abstract":"Recently, cardiogenetics is a rapidly developing medical section combining cardiovascular and genetic knowledge. Inherited forms of cardiac arrhythmias are typically rare diseases (prevalence < 1:2,000) and may occur in a sporadic or familial manner, here mostly in an autosomal dominant form. They are also called \"primary electrical heart disorders\" due to the ECG-based diagnosis and mainly normal cardiac imaging, i.e. absence of structural heart abnormalities. Their genetic basis is heterogeneous, still incomplete (variant detection rates between 10 % and 80 %) and mostly related to cardiac ion channel genes and related regulatory units. So far, the utility of polygenic risk scores is under current evaluation. Clinical disease expressivity may range from non-penetrance to high penetrance, indicating the importance of additional clinical modifiers (genetic and non-genetic) that modulate phenotypic signs. Occurrence of symptoms, as typical for other ion channel disorders (e.g., epilepsy), also depends on exposure to specific and often genotype-related environmental triggers, that enhance the occurrence of clinically relevant and potentially life-threatening arrhythmias. In the following, the main focus is on cardiac ion channel disorders, with regard to some general genetic aspects and current guidelines indicating the value of genotyping to support early disease recognition, confirmation of diagnosis and prevention of severe cardiac events.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"125-136"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250735","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

Disease mechanism and novel drug therapies for atrial fibrillation. 房颤的发病机制及新型药物治疗。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2005

Constanze Schmidt, Felix Wiedmann

引用次数: 0

Cardiovascular aspects of Noonan syndrome and related disorders. 努南综合征及相关疾病的心血管方面。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2010

Martin Zenker, Cordula M Wolf

{"title":"Cardiovascular aspects of Noonan syndrome and related disorders.","authors":"Martin Zenker, Cordula M Wolf","doi":"10.1515/medgen-2025-2010","DOIUrl":"10.1515/medgen-2025-2010","url":null,"abstract":"Noonan syndrome and other RASopathies constitute an important group of disorders to be considered in the differential diagnosis in individuals with congenital heart defects and hypertrophic cardiomyopathy. The cardiovascular phenotype of RASopathies is complex and comprises a spectrum of abnormalities, including not only congenital defects but also abnormalities affecting the lymphovascular system and other anomalies of the vascular system, which may emerge over the course of an individual's lifetime. Affected individuals typically present with a syndromic phenotype, exhibiting additional physical symptoms outside of the cardiovascular system and neuropsychological deficits. Genetic testing of the established disease genes for RASopathies is an effective method for identifying the underlying genetic variant in the majority of cases. This approach is strongly recommended to facilitate a more precise prognosis and the potential for personalized targeted therapies. Screening for RASopathy-associated gene variants in individuals with isolated CHDs, HCM, or other isolated cardiovascular features outside the NS spectrum appears to have limited clinical utility. However, it should be noted that the RASopathy phenotype may be challenging to discern in cases of mild or oligosymptomatic involvement, or it may be obscured by the presence of severe medical conditions, particularly in very young children.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"113-124"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991405","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

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants. 了解遗传性心肌病：临床方面和遗传决定因素。

IF 1.1 4区生物学

Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2007

Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik

{"title":"Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.","authors":"Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik","doi":"10.1515/medgen-2025-2007","DOIUrl":"10.1515/medgen-2025-2007","url":null,"abstract":"Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or congenital heart disease as a leading cause. The phenotypic spectrum of CMs ranges from silent heart failure to symptomatic heart failure and sudden cardiac death, and CMs are one of the leading causes of cardiovascular morbidity worldwide. CMs are highly heritable, although a clear distinction between inherited and acquired forms remains challenging, particularly due to observed incomplete penetrance and variable expressivity of inherited CMs. Based on their specific morphological phenotypes and functional characteristics, CMs can be divided into at least 5 different subgroups: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and (left ventricular) non-compaction cardiomyopathy (LVNC), which show both clinical as well as genetic overlap. Since the identification of pathogenic variants in MYH7 as a genetic cause of HCM in 1990, enormous progress has been made in understanding genetic factors contributing to cardiomyopathies. Currently, over 100 genes have been associated with at least one of the CM subtypes, providing a deeper understanding of the cellular basis of genetic heart failure syndromes, unveiling new insights into the molecular biology of heart function in both health and disease, and, thereby, facilitating the development of novel therapeutic strategies and personalized treatment approaches.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"103-111"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007515","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