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Primary neural atrophy is a neurodevelopmental disease characterized by a significant reduction in head circumference.
hereditary primary small head syndrome usually involves only single-gene mutations.
study of these genes has revealed the key mechanisms of neural occurrence and control of the size of the human brain.
, 27 genes have been found to be associated with cer cerebral atrophy, with central granules/spindle biogenes and DNA damage responses representing the two most common pathways that have been negatively affected.
clinical genome sequencing data have linked more than 100 other genes to the disease, most of which have not been studied in depth.
the role of these genes in brain development and gadgets is complex and lacks a suitable model system.
human 2D cell culture and mouse models often do not fully reproduce the patient's esope.
three-dimensional (3D) brain organs in humans provides an opportunity to study the small brain atrophy gene in detail in the context of human tissue.
, however, there are several disadvantages to brain-like organs.
knocking out individual gene functions is time-consuming, so comparing a large number of candidate genes is not currently possible, and in a 3D model, the system's loss of function (LOF) method is not available.
recently, researchers published a paper in the journal SCIENCE reporting that they have developed a method of LOF determination of brain tissue that can be used for high-volume screening.
has established crispr-LIneage tracking methods (CRISPR-LICHT) for cell resolution levels in heterogeneum tissues, making parallel LOF research feasible in human brain-like organ tissue.
using the organization's screening method, researchers have increased screening vectors and tested 173 candidate genes for cerebral atrophy, revealing that 25 genes were involved in known and unsealed pathfration of small brain atrophy.
particularly important, the researchers demonstrated that IER3IP1 regulates the secretion of unfolded protein reactions (UPRs) and extracellular substation (ECM) proteins that are critical to tissue integrity, and that this disorder can lead to glandular disease.
, the human tissue screening technique identifies mechanisms related to the genetic and brain size control of the glycephaly gene.