Results 81 to 90 of about 274,651 (250)
Advanced Science, EarlyView.Intravitreal AAV2‐mediated AKAP1 restoration enhances mitochondrial fusion and biogenesis, improves bioenergetic capacity, and preserves mitochondrial integrity in glaucomatous RGCs. AKAP1 stabilizes presynaptic structure, maintaining synaptic protein expression, and limiting complement‐associated neuroinflammation.
Tonking Bastola +10 more
wiley +1 more source
American Journal of Botany, EarlyView.Abstract Premise The study of the early stages of divergence between populations is crucial to understanding how species and biodiversity originate. Geographic distributions that capture some aspects of the process of divergence, such as those that are markedly U‐shaped, could offer a window to identify systems undergoing incipient speciation, which ...
Itzel A. Piña‐de la Rosa +1 more
wiley +1 more source
Evolutionary history and taxonomy of the genus Zea
American Journal of Botany, EarlyView.Abstract Premise Taxonomic differentiation of teosinte species (Zea spp.), the closest relatives of maize (Z. mays) is crucial for understanding their distribution, ecology, and evolutionary history. Resolving the taxonomic uncertainties is of scientific interest and has practical implications for biodiversity management, preservation, and utilization.
José de Jesús Sánchez González +4 more
wiley +1 more source
Biological Research, 2009 We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients.
RODRIGO GONZÁLEZ +8 more
doaj
Candidate Single Nucleotide Polymorphism Markers for Arsenic Responsiveness of Protein Targets
Bioinformatics and Biology Insights, 2010 Arsenic is a toxic metalloid that causes skin cancer and binds to cysteine residues—a property that could be used to infer arsenic responsiveness of a target protein.
Barbara E. Graham-Evans +6 more
doaj
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh +5 more
wiley +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Angewandte Chemie, EarlyView.A photoswitchable ligand was used to trigger conformational changes within the thrombin binding aptamer DNA G‐Quadruplex. These reversible ligand driven rearrangements were examined by time‐resolved NMR experiments to gain insight of the dynamic folding landscape of the G‐quadruplex.
Jason Martins +2 more
wiley +2 more sources