Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The novel mutations are transversions of C to G and A to T at nucleotide positions 1215 (N384K) and 2356 (S765C), respectively. The known mutations were detected in CpG dinucleotides at bases 661 and 682, respectively, in the mutation-rich exon 4 of the LDLR gene. Mutation D200Y was found in a single FH family, while mutation E207K was detected in two apparently unrelated Indian families on a new mutual haplotype. Analysis of published mutations including our new data has shown that more than 50% of the different LDLR gene mutations identified to date in South African Indians occur at CpG hotspots.
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http://dx.doi.org/10.1111/j.1399-0004.1997.tb02497.x | DOI Listing |
Front Chem
January 2025
African Society for Bioinformatics and Computational Biology, Cape Town, South Africa.
Introduction: Treatment of type 2 diabetes (T2D) remains a significant challenge because of its multifactorial nature and complex metabolic pathways. There is growing interest in finding new therapeutic targets that could lead to safer and more effective treatment options. Takeda G protein-coupled receptor 5 (TGR5) is a promising antidiabetic target that plays a key role in metabolic regulation, especially in glucose homeostasis and energy expenditure.
View Article and Find Full Text PDFF1000Res
January 2025
Department of Philosophy, Vrije Universiteit Amsterdam, Amsterdam, North Holland, The Netherlands.
Background: Despite the significant role of consensus and dissensus in knowledge production, formal approaches to consensus are notably less common in the humanities compared to their frequent application in natural, social, and life sciences. This article therefore explores the potential of expert consensus methods in humanities-related research.
Methods: In order to do so, an interdisciplinary team of both sciences researchers experienced in consensus methods and researchers familiar with the domain of the humanities and epistemology, conducted a literary review and exchanged their expertise in multiple brainstorm sessions.
J Educ Health Promot
December 2024
Research Center for Public Health and Nutrition, National Research and Innovation Agency, Jakarta, Indonesia.
Background: Adolescent pregnancy is prevalent in Asian-African countries. Hence, it is critical to track the progress of research and development trends related to the topic. The study aimed to characterize published articles on teen pregnancy by measuring the authors' country and affiliation, most relevant and cited journals, thematic research, and growth trends.
View Article and Find Full Text PDFAngiology
January 2025
Family Center for Research with Ubuntu, Department of Paediatrics and Child Health, Stellenbosch University, Stellenbosch, South Africa.
Atherosclerosis often starts in childhood, tracking to adulthood. In children, early vascular disease can be detected as arterial stiffness. Carotid-femoral pulse wave velocity is considered the non-invasive gold standard method for measuring arterial stiffness and widely accepted for use in children.
View Article and Find Full Text PDFItal J Pediatr
January 2025
Department of Surgical Nursing, School of Nursing, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Background: Under-five mortality and malnutrition are more common in many low- and middle-income countries, highlighting the grave consequences of improper nutrition for children. Infants that continue to be exclusively breastfed after six months are considered to be engaging in prolonged exclusive breastfeeding. Children with prolonged exclusive breastfeeding are more susceptible to anemia, atopic dermatitis, and food allergies.
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