Vascular anomalies include benign or malignant tumors or benign malformations of the arteries, veins, capillaries, or lymphatic vasculature. The genetic etiology of the lesion is essential to define the lesion and can help navigate choice of therapy. . In the United States, about 1.2% of the population has a vascular anomaly, which may be underestimating the true prevalence as genetic testing for these conditions continues to evolve.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11092895 | PMC |
http://dx.doi.org/10.1016/j.coms.2023.09.001 | DOI Listing |
Forensic Sci Med Pathol
January 2025
Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax.
View Article and Find Full Text PDFJ Appl Genet
January 2025
Department of Plant Protection, Division of Plant Pathology and Mycology, Wrocław University of Environmental and Life Sciences, Grunwaldzki 24A, 50-363, Wrocław, Poland.
Fusarium stalk rot is the main factor reducing the quality of maize grain and leads to significant yield losses, which that ranges from 20 to 100%, depending on the degree of infection and weather conditions. Understanding its genetic mechanism is key to improving grain quality and ultimate yield. An experiment with 26 doubled haploid (DH) lines of maize was conducted in the northern part of the Lower Silesia Province in Poland over a ten-year period (2013-2022).
View Article and Find Full Text PDFBackground: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.
View Article and Find Full Text PDFHLA
January 2025
Kirov Hematology and Blood Transfusion Research Institute Under the Federal Medicine and Biology Agency, Federal State Budget Research Institution, Kirov, Russia.
Four novel HLA-B noncoding variants detected by next-generation sequencing: HLA-B*07:02:107, -B*08:01:78, -B*15:01:89 and -B*52:01:58.
View Article and Find Full Text PDFHLA
January 2025
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Moscow, Russia.
The new HLA-B*38:01:26 allele showed one synonymous nucleotide difference compared to the HLA-B*38:01:01:01 allele in codon 101.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!