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Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations.
Sci Adv
January 2025
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
We applied an MRI technique diffusion tensor imaging along the perivascular space (DTI-ALPS) for assessing glymphatic system (GS) in a genome-wide association study (GWAS) and phenome-wide association study (PheWAS) of 40,486 European individuals. Exploratory analysis revealed 17 genetic loci significantly associating with the regional DTI-ALPS index. We found 58 genes, including and , which prioritized in the DTI-ALPS index subtypes and associated with neurodegenerative diseases.
View Article and Find Full Text PDFPrevalence of ABO, Rh (D, C, c, E, and e), and Kell (K) antigens in blood donors: A single-center study from South India.
Asian J Transfus Sci
September 2022
Department of Transfusion Medicine and Immunohaematology, St. John's Medical College, Bengaluru, Karnataka, India.
Background: Although ABO and RhD are the clinically significant blood group antigens that are routinely tested for, other blood group antigens may become important in multiply transfused patients due to risk of alloimmunization. Knowledge of antigen prevalence in a population is important in the context of alloimmunization and antigen matching. This study aims to do the same in a population of voluntary blood donors of a center in South India.
View Article and Find Full Text PDFA cross-sectional pilot study to estimate the frequency of minor blood group alleles and phenotypes in RhD-negative North Indian blood donors by DNA microarray analysis.
Asian J Transfus Sci
October 2024
Biochemistry, AIIMS, Rishikesh, Uttarakhand, India.
Introduction: There are scarce data on Indian blood donors with respect to blood group phenotypes using molecular diagnostic modalities. Hence, we planned to estimate frequencies of blood group alleles/phenotypes using DNA microarray analysis in the north Indian RhD-negative blood donor population. With this initial pilot study, we plan to expand it to our entire donor population.
View Article and Find Full Text PDFLarge-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Genet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Natural variation in the GmVPE1 promoter contributes to phosphorus re-translocation to seeds and improves soybean yield.
Plant Biotechnol J
January 2025
Root Biology Center, Fujian Agriculture and Forestry University, Fuzhou, China.
Phosphorus (P) is an essential yet frequently deficient plant nutrient. Optimizing P distribution and recycling between tissues is vital for improving P utilization efficiency (PUE). Yet, the mechanisms underlying the transport and re-translocation of P within plants remain unclear.
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