RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and accumulation of amylopectin in skeletal muscle. The amylopectinosis myopathy cardiomyopathy. pathogenesis poorly investigated may include unnoticed re...

Interferon stimulated gene 15 (ISG15) is one of the most highly upregulated proteins in response to viral infection and involved numerous pathways with multiple mechanisms actions. ISG15 deficiency has been reported induce type I interferonopathy owing defective negative regulation IFN-I signalling as well enhanced antiviral protection. Here, we have generated knockout clones from human iPSCs, ...

In this issue of Blood, Holzhauer et al have determined a novel method of identifying patients with protein C, protein S, and antithrombin deficiency who are at increased risk of developing venous thromboembolism (VTE; see figure). Children with VTE and their relatives were screened for inherited thrombophilia including proteins C and S and antithrombin deficiency; and Factor (F)V G1691A and FI...

Yoghurt is a fermented dairy product with conspicuous consumption around the world due to its pronounced health benefits. defined as food produced by culturing milk in controlled conditions that contain lactic acid-producing bacteria (Lactobacillus bulgaricus, Streptococcus thermophilus. Consumer acceptability of high benefits and sensory attributes. It provides 40% calcium 30-45% phosphorus da...

background: heat shock protein a2 (hspa2) is correlated with sperm maturity and function. therefore, dysfunctional expression of this gene results in abnormal spermatogenesis. on the other hand, dna damage in spermatozoa is considered to be an important cause of male infertility, and the presence of sperm with dna fragmentation and chromatin abnormalities in human ejaculates is well documented,...

BACKGROUND It has been proposed that muscle insulin resistance in type 2 diabetes is due to a selective decrease in the components of the mitochondrial electron transport chain and results from accumulation of toxic products of incomplete fat oxidation. The purpose of the present study was to test this hypothesis. METHODOLOGY/PRINCIPAL FINDINGS Rats were made severely iron deficient, by means...

Cell adhesion is tightly controlled in multicellular organisms, for example, through proteolytic ectodomain shedding of the adhesion-mediating cell surface transmembrane proteins. In brain, proteins required nervous system development and function, but only a few has been studied detail mammalian brain. One such protein endoglycan (PODXL2), which belongs to CD34-family highly glycosylated sialo...

Iron (Fe) is an essential plant micronutrient, and its deficiency limits plant growth and development on alkaline soils. Under Fe deficiency, plant responses include up-regulation of genes involved in Fe uptake from the soil. However, little is known about shoot responses to Fe deficiency. Using microarrays to probe gene expression in Kas-1 and Tsu-1 ecotypes of Arabidopsis thaliana, and compar...