Thrombotic disease of the newborn is uncommon but usually associated with serious morbidity and mortality. Although the operating mechanisms of coagulation and fibrinolysis are the same in all age groups, plasma concentrations of the two systems' components are significantly different in neonates compared to children and adults. This places neonates at greater risk for thrombosis that may rise ...

Marked hypoalphalipoproteinemia was found together with relatively low serum cholesterol, triacylglycerol, and LDL levels in a triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1)-deficient Hungarian family, especially in the two compound-heterozygote brothers. Apart from a slight increase in palmitic and stearic acids together with a slight decrease in ole...

DEAD box 1 (DDX1) is a member of the DEAD box family of RNA helicases which are involved in all aspects of RNA metabolism. DDX1 has been implicated in a variety of biological processes, including 3'-end processing of mRNA, DNA repair, microRNA processing, tRNA maturation and mRNA transport. To study the role of DDX1 during development, we have generated mice carrying a constitutive Ddx1 knock-o...

PURPOSE The precise molecular mechanisms culminating in coronary artery disease (CAD) are not well understood, despite a wealth of knowledge on predisposing risk factors and pathomechanisms. CAD and myocardial infarction (MI) are complex genetic diseases; neither the environment alone, nor a single gene, cause disease, rather, a mix of environmental and genetic factors lead to atherosclerosis o...

A solution hybridization/RNase protection assay for the molar quantitation of vasopressin and oxytocin mRNAs, using synthetic complementary RNA probes, is described. This assay was optimized to permit the identification of vasopressin (AVP) mRNAs containing the frame-shift point deletion causing inheritable diabetes insipidus in the Brattleboro strain of rat. Examination of RNA from hypothalami...

Fanconi anemia is an inherited disease characterized by bone marrow failure, congenital malformations, and predisposition to cancer. The breast cancer susceptibility gene BRCA2 was recently found to be associated with Fanconi anemia complementation group D1 (FA-D1). We examined four kindreds afflicted with Fanconi anemia for the presence of germline BRCA2 mutations. One kindred, of Ashkenazi Je...

BACKGROUND There are no validated biomarkers that correlate with the prognosis of pancreatic ductal adenocarcinoma (PDA). The CD24 and adenomatous polyposis coli (APC) genes are important in the malignant transformation of gastrointestinal cells. This study examined APC and CD24 genetic polymorphisms and their possible impact on survival of patients with PDA. METHODS Clinical and pathological...

This study aimed to assess the associations of two common Flap endonuclease 1 (FEN1) polymorphisms (rs4246215 and rs174538) with breast cancer risk in northwest Chinese women. We conducted a case-control study with 560 breast cancer patients and 583 age-matched healthy controls from Northwest China. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to estimate the associations....

Purpose: This study is to present the diagnosis of a Chinese Joubert syndrome (JS) patient caused by compound heterozygote mutations in C5orf42 gene. Methods: A 4 months old male child and was admitted to our hospital because of poor head control andcough at least for 10 days. Routine physical examination and auxiliary instrument inspection were undertaken. Whole exome sequencing was performed ...

We characterize the function of MHC molecules by the sets of pathogens that they recognize, which we call their "recognition sets." Two features of the MHC-pathogen interaction may be important to the theory of polymorphism construction at MHC loci: First, there may be a large degree of overlap, or degeneracy, among the recognition sets of MHC molecules. Second, when infected with a pathogen, a...