Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou +7 more
wiley +1 more source
Recurrent polyploidy and descending dysploidy as plant genome shapers: Insights from Sporobolus (Chloridoideae, Poaceae) genomes. [PDF]
Milin M +7 more
europepmc +1 more source
ParaHox Genes Revisited: From Gut Patterning to Integrated Axial and Neural Organization in Rotifera
In rotifers, ParaHox genes show a dispersed genomic organization, with Xlox absent across gnathiferans. Exclusive neuronal expression of Gsx and Cdx reveals that ancestral ParaHox genes coordinated neural and epithelial development beyond gut patterning, suggesting an integrated role in early bilaterian body plan organization.
Andreas C. Fröbius +2 more
wiley +1 more source
Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu +4 more
wiley +1 more source
Evolution of genomic architecture of the plant-pathogenic fungus <i>Alternaria</i> revealed by comparative analyses of 12 chromosome-level assemblies. [PDF]
Dettman JR, Kim NE, Dadej K.
europepmc +1 more source
Sequences homologous to the human D1S1 locus present on human chromosome 3.
B. Carritt +2 more
openalex
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot +22 more
wiley +1 more source
Active maintenance of meiosis-specific chromosome structures in <i>Caenorhabditis elegans</i> by the deubiquitinase DUO-1. [PDF]
Strand LG +5 more
europepmc +1 more source

