Rogers syndrome (Thiamine responsive megaloblastic anaemia-TRMA) occurs due to defect in the SLC19A2 gene. and SLC19A3 genes encode THTR1 2 respectively, which are thiamine transporter proteins. The gene is expressed inner ear cells, β-islet hematopoietic stem cells; consequently, typical clinical trial of TRMA diabetes, TRMA, sensorineural hearing loss. This syndrome, eponymously called Roger’...

The function of calcium as a signaling molecule is conserved in eukaryotes from fungi to humans. Previous studies have identified the calcium-activated phosphatase calcineurin as a critical factor in governing growth of the human pathogenic fungus Cryptococcus neoformans at mammalian body temperature. Here, we employed insertional mutagenesis to identify new genes required for growth at 37 degr...

Preferential use of particular VH gene families in the response to specific antigens has been demonstrated in several systems. The lack of responses to certain types of antigens, therefore, could be the result of deletion of or failure to express some VH genes. Because CBA/N mice, which carry the X-linked immunodeficiency (xid) gene defect, have been shown to be unresponsive to thymus-independe...

LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq28 localization gene, structural-functional anomalies G6PD (G6PD1) glucose-6-phosphate dehydrogenase, gene chr.Xq28 gene analysis-DNA analysis myelo-erythropoietic disorders glucose-6-phosphate dehydrogenase deficiency haemolytic anaemia isolated hematopo...

background: multiple sclerosis (ms) is an autoimmune disease of the central nervous system (cns) caused by autoreactive t cells against myelin antigens. t-cell immunoglobulin mucin -3 (tim-3) is a negative regulator glycoprotein expressed by a range of immune cells, including, th1 cells, activated cd8+ t cells and in a lower level on th17 cells. a defect in tim-3 regulation has been shown in mu...

Mitochondrial respiratory defect is a key bioenergetics feature of hepatocellular carcinoma (HCC) cells. However, their involvement and roles in HCC development and progression remain unclear. Recently, we identified 10 common mitochondrial defect (CMD) signature genes that may be induced by retrograde signaling-mediated transcriptional reprogramming in response to HCC mitochondrial defects. HC...

option of defect is one of common options between sale and rent contracts, however, it has special rules and conditions in those contracts. in the sale contracts, any defect in the sold or bought thing causes the victim has option of defect but in the rent contracts, only the defect creates option of defect that causes hardship in using of goods or reducing of benefits. in the sale, defect of s...