Results 241 to 250 of about 314,723 (346)

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
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

ParaHox Genes Revisited: From Gut Patterning to Integrated Axial and Neural Organization in Rotifera

open access: yesJournal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
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

open access: yesMass Spectrometry Reviews, EarlyView.
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

Sequences homologous to the human D1S1 locus present on human chromosome 3.

open access: green, 1986
B. Carritt   +2 more
openalex  

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

open access: yesMovement Disorders, EarlyView.
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

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