Medizinische GenetikPub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2020
Anne Gregor, Christiane Zweier
{"title":"Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.","authors":"Anne Gregor, Christiane Zweier","doi":"10.1515/medgen-2024-2020","DOIUrl":"10.1515/medgen-2024-2020","url":null,"abstract":"<p><p>In this review we describe different model organisms and systems that are commonly used to study syndromic disorders. Different use cases in modeling diseases, underlying pathomechanisms and specific effects of certain variants are elucidated. We also highlight advantages and limitations of different systems. Models discussed include budding yeast, the nematode worm, the fruit fly, the frog, zebrafish, mice and human cell-based systems.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"121-131"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297259","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}
Medizinische GenetikPub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2016
Ulla T Schultheiss
{"title":"Freiburg: Priv.-Doz. Dr. med. Ulla T. Schultheiss hat sich mit Arbeiten zu den genetischen Grundlagen von Nierenerkrankungen im Fach Experimentelle Medizin habilitiert.","authors":"Ulla T Schultheiss","doi":"10.1515/medgen-2024-2016","DOIUrl":"10.1515/medgen-2024-2016","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"137-138"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297256","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}
Medizinische GenetikPub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2024
Nuria C Bramswig, Dagmar Wieczorek
{"title":"Syndromology at the interface of evolving phenotypes, epimutations, and model systems.","authors":"Nuria C Bramswig, Dagmar Wieczorek","doi":"10.1515/medgen-2024-2024","DOIUrl":"https://doi.org/10.1515/medgen-2024-2024","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"93-94"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297261","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}
Medizinische GenetikPub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2018
Helga Rehder
{"title":"Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch.","authors":"Helga Rehder","doi":"10.1515/medgen-2024-2018","DOIUrl":"10.1515/medgen-2024-2018","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"139-140"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297265","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}
Medizinische GenetikPub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2015
{"title":"Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt.","authors":"","doi":"10.1515/medgen-2024-2015","DOIUrl":"10.1515/medgen-2024-2015","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"133"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297266","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}