Between 2016 and 2018, interviews with 33 persons were conducted about the history of human genetics in Germany between 1970 and the 2000s. 29 interviewees gave consent to have the interviews used for historical research. These interviews are currently being analysed with the methods of qualitative content analysis and grounded theory. The focus of this article lies on the critical examination of the method of oral history and its application to human genetics. The oral history project focuses on questions regarding (1) biographical data and careers of interviewees, (2) development and application of diagnostic and therapeutic techniques, (3) establishment and growth of institutions of human genetics and (4) social debates regarding the discipline.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006381 | PMC |
http://dx.doi.org/10.1515/medgen-2021-2078 | DOI Listing |
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFJ Nanobiotechnology
January 2025
Department of Burns, Wound Repair and Reconstruction, First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, 510080, China.
Hypertrophic scar (HS) is a common fibroproliferative disorders with no fully effective treatments. The conversion of fibroblasts to myofibroblasts is known to play a critical role in HS formation, making it essential to identify molecules that promote myofibroblast dedifferentiation and to elucidate their underlying mechanisms. In this study, we used comparative transcriptomics and single-cell sequencing to identify key molecules and pathways that mediate fibrosis and myofibroblast transdifferentiation.
View Article and Find Full Text PDFCell Mol Biol Lett
January 2025
Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Jiangsu Province Engineering Research Center of Precision Diagnostics and Therapeutics Development, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Suzhou Key Laboratory of Drug Research for Prevention and Treatment of Hyperlipidemic Diseases, Soochow University, 199 Ren'ai Road, Suzhou, 215123, Jiangsu, China.
Background: The protein cereblon (CRBN) mediates the antileukemia effect of lenalidomide (Len). Len binds to CRBN, recruits IKZF1/IKZF3, and promotes their ubiquitination and degradation, through which Len exhibits its antileukemia and antimyeloma activity. Therefore, the protein level of CRBN might affect the antiproliferative effect of Len.
View Article and Find Full Text PDFBMC Microbiol
January 2025
Center for Public Health Research, Medical School of Nanjing University, Nanjing, China.
Background: Enterovirus 71 (EV71) is one of the major causative agents of hand, foot, and mouth disease (HFMD), and can cause severe cerebral complications and even fatality in children younger than 5 years old. However, there is no specific medication for EV71 infection in clinical practice. Our previous studies had identified the 6-thioguanine (6-TG), an FDA-approved anticancer drug, as a potential antiviral agent, but its anti-EV71 activity is largely unknown, therefore, we aim to explore the antiviral effect of 6-TG on EV71.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Utah Health, 30 N. Mario Capecchi Dr., Level 5 South, Salt Lake City, UT, 84132, USA.
Background: Fetal growth restriction (FGR) is a leading risk factor for stillbirth, yet the diagnosis of FGR confers considerable prognostic uncertainty, as most infants with FGR do not experience any morbidity. Our objective was to use data from a large, deeply phenotyped observational obstetric cohort to develop a probabilistic graphical model (PGM), a type of "explainable artificial intelligence (AI)", as a potential framework to better understand how interrelated variables contribute to perinatal morbidity risk in FGR.
Methods: Using data from 9,558 pregnancies delivered at ≥ 20 weeks with available outcome data, we derived and validated a PGM using randomly selected sub-cohorts of 80% (n = 7645) and 20% (n = 1,912), respectively, to discriminate cases of FGR resulting in composite perinatal morbidity from those that did not.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!