Results 231 to 240 of about 54,834 (268)
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Epigenetic Regulation in the Pathogenesis of Periodontitis
Journal of Periodontal Research, EarlyView.The aim of this narrative literature review was to identify epigenetic marks associated with periodontitis and to place them in a biological context. The literature was reviewed based on pre‐defined criteria. Cell type specific chromatin and mRNA modifications were included.
Henrik Dommisch +3 more
wiley +1 more source
Molecular Characterization of the Group A Streptococcus Virulence‐Regulatory System FasBCAX
Molecular Microbiology, EarlyView.The Fas system of the group A Streptococcus is comprised of three proteins (FasBCA) and a small regulatory RNA (FasX), and it represses adhesin production while also promoting the production of the spreading factor streptokinase. Here, we analyze the Fas proteins to assess how they positively regulate FasX production.
Sushila Baral +9 more
wiley +1 more source
Genetics of Common Obesity in Children and Adolescents
Annals of the New York Academy of Sciences, EarlyView.Abstract Childhood obesity is a multifactorial public health problem worldwide. Genetic variation influences the predisposition to develop obesity at early stages of life. Childhood obesity may be classified as syndromic, monogenic, or polygenic depending on the genetic component.
Guadalupe León‐Reyes +2 more
wiley +1 more source
Complex Interplay Between Obesity and BRCA1/2‐Associated Breast Cancer: An Overview
Obesity Reviews, EarlyView.ABSTRACT The steadily increasing prevalence of obesity and its association with a growing number of malignancies, including breast cancer, has made this disease spectrum an urgent and critical public health priority, demanding immediate attention and comprehensive action.
Cinzia Giordano +9 more
wiley +1 more source
P772: Optimal amniotic fluid volume required for direct chromosomal microarray analysis
Genetics in Medicine OpenLina Ibrahim +2 more
doaj +1 more source
Plant Biotechnology Journal, EarlyView.ABSTRACT Polyploidisation is a natural evolutionary mechanism that enhances plant stress tolerance and environmental adaptability; however, its impact on microbiome homeostasis remains poorly understood. In this study, we selected a nascent euploid synthetic hexaploid wheat line (HG116; 2n = 6x = 42, BBAADD) by selfing a triploid F1 hybrid of Triticum ...
Xin He +12 more
wiley +1 more source
DNA Double Strand Break Repair Is Important for the Longevity of Primed Seeds
Plant, Cell &Environment, EarlyView.ABSTRACT Germination of many crop species is improved by priming, which facilitates pre‐germinative metabolism through controlled hydration. However, priming is often associated with reduced seed longevity. Here, a screen of Arabidopsis thaliana DNA repair mutants identified dna ligase 6 and dna ligase 4 (lig6lig4) seeds as most sensitive to ageing of ...
Wanda M. Waterworth +3 more
wiley +1 more source