Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant bleeding disorder which is due to a mutation in the gene encoding for platelet glycoprotein Ibalpha (GPIbalpha) resulting in enhanced affinity for von Willebrand factor (VWF). PT-VWD is often mistakenly diagnosed as type 2B VWD for the similarities between these two conditions. We characterized a new case of PT-VWD and e...

Cucumber mosaic virus (CMV) comprises numerous isolates with various levels of in-host diversity. Subgroup-distinctive features of the Fny and LS strains provided us with a platform to genetically map the viral control elements for genetic variation in planta. We found that both RNAs 1 and 2 controlled levels of genetic diversity, and further fine mapping revealed that the control elements of m...

background: phosphatidate phosphohydrolase (pap) catalyzes the dephosphorylation of phosphatidic acid to yield p i and diacylglycerol. two different forms of pap have been reported in rat hepatocyte: pap 1 that participates in the synthesis of phospholipids and triacylglycerols and pap 2 which is involved in lipid signaling pathways. two isoforms of pap 2 are pap 2a and pap 2b . this study exam...

Background: Pontocerebellar hypoplasia is an autosomal recessive and neurodegenerative disorder divided into sixteen subtypes. type 2B (PCH2B) shows microcephaly combined with epilepsy extrapyramidal dyskinesia chorea due to different homozygous or compound heterozygous pathogenic mutations in the TSEN2 gene. Objectives: This study was aimed find mutation responsible for pontocerebellar two fam...

PR-10 proteins (pathogensis-related), ubiquitous within the plant kingdom, are usually encoded by multigene families. To date we have identified 10 homologous pr-10 genes in a yellow lupine cDNA library. Here, the structure and expression of two newly identified yellow lupine pr-10 genes (LlYpr10-2b and LlYpr10-2f) are presented. Many potential regulatory sites were found in both gene promoters...