Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
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http://dx.doi.org/10.1186/s13059-017-1276-1 | DOI Listing |
J Cell Physiol
January 2025
Department of Pharmaceutical Sciences and Center for Blood-Brain Barrier Research, Jerry H. Hodge School of Pharmacy, Texas Tech University Health Sciences Center, Amarillo, Texas, USA.
Glucose is a major source of energy for the brain. At the blood-brain barrier (BBB), glucose uptake is facilitated by glucose transporter 1 (GLUT1). GLUT1 Deficiency Syndrome (GLUT1DS), a haploinsufficiency affecting SLC2A1, reduces glucose brain uptake.
View Article and Find Full Text PDFPlant Genome
March 2025
Department of Fundamental Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
The plant Polygonum capitatum (P. capitatum) contains a variety of flavonoids that are distributed differently among different parts. Nevertheless, differentially expressed genes (DEGs) associated with this heterogeneous distribution have not been identified.
View Article and Find Full Text PDFEndocr Metab Immune Disord Drug Targets
January 2025
Department of Genetics, School of Biology and Basic Medical Sciences, Suzhou Medical College Soochow University, Suzhou 215123, China.
Background: There is still no conclusive understanding of whether the glucokinase regulator (GCKR) gene rs780094 and rs1260326 polymorphisms predispose to gestational diabetes mellitus (GDM).
Objective: This systematic review and meta-analysis aimed to determine the effect of the GCKR polymorphisms on GDM susceptibility.
Methods: Seven literature databases were searched (from inception to February 17, 2024) to locate relevant studies included in further meta-analysis.
Microsc Res Tech
January 2025
Faculty of Science, Department of Molecular Biology and Genetics, Pamukkale University, Denizli, Türkiye.
This study investigates the pollen morphology of 13 taxa of Turkish Gentiana using a statistical approach, contributing to their taxonomy. The aim is to elucidate the palynological characteristics of the taxa and to reveal their contributions to the systematic understanding of the genus Gentiana. The pollen grains are monad, radially symmetrical, isopolar, and tricolporate.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.
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