Methods and Materials for Identifying Polymorphic Variants, Diagnosing Susceptibilities, and Treating Disease

This invention relates to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one-carbon metabolic pathways important in pregnancy-related complications and neural tube birth defects: MTHFD1 (5,10-methylenetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthase) and methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L). These enzymes are extremely important in the promotion of DNA synthesis, a process that is critical for normal placental and fetal development.

Molecules for Studying Cellular Immune Responses to Vaccines and Therapeutics

HLA molecules are indispensable and invaluable tools for efficient vaccine research and development. Infectious diseases are the second leading cause of death among adults and the most prominent cause of death in infants and children worldwide. Thus, rapid availability of prophylactic vaccines for cancers and infectious diseases such as HIV, HPV, influenza and diarrheal and respiratory diseases is a world-wide health concern.

Model for Study of Glomerular Disorders: Conditionally-Immortalized Mouse Podocyte Cell Line with Tet-on-Regulated Gene Expression

Podocytes, cells of the visceral epithelium in the kidneys, are a key component of the glomerular filtration barrier. As such, they play a vital role in glomerular disorders, which are a major cause of chronic kidney disease. Examples of these disorders include focal segmental glomerulosclerosis, membranous glomerulonephritis, minimal change disease, and diabetic nephropathy.

Aquaporin 2 Polyclonal Antibodies

Aquaporins, also known as water channels, form pores in cell membranes and selectively transport water in and out of the cell. Aquaporins are involved in regulation of water balance and blood pressure, and thirteen different isoforms have been found in mammals. Aquaporin 2 (AQP2) is located in the collecting duct of the kidney, and is regulated by the peptide hormone vasopressin. AQP2 expression is increased in conditions where there is water retention, such as pregnancy and congestive heart failure, and mutations of AQP2 are associated with nephrogenic diabetes insipidus.

Mouse Monoclonal Antibody to the Nitrone Spin Trap 5,5-dimethyl-1-pyrroline N-oxide (DMPO)

Oxidative stress resulting in the formation of biological radicals has been implicated in a number of human diseases, such as cancer as well as aging. There is, however, a paucity of reliable methods for in vivo or ex vivo detection of radical formation. Until now the only general technique that allowed for the detection of these highly reactive species was electron spin resonance (ESR) using spin traps. One of the most popular of these spin traps is 5,5-dimethyl-1-pyrroline N-oxide (DMPO).

Mice with a Conditional LoxP-Flanked Glucosylceramide Synthase Allele Controlling Glycosphingolipid Synthesis

Glycosphingolipids are organizational building blocks of plasma membranes that participate in key cellular functions, such as signaling and cell-to-cell interactions. Glucosylceramide synthase - encoded by the Ugcg gene - controls the first committed step in the major pathway of glycosphingolipid synthesis. Global disruption of the Ugcg gene in mice is lethal during gastrulation. The inventors have established a Ugcg allele flanked by loxP sites (floxed).

Polyclonal Antibodies to the Kidney Protein Sodium-Hydrogen Exchanger 3 (NHE3)

Antibodies to NHE3, useful for immunoblotting and immunocytochemistry, are available to resell for research purposes. NHE3 is a membrane Na+/H+ exchanger involved in maintenance of fluid volume homeostasis in the kidney. It is expressed on the apical membrane of the renal proximal tubule and plays a major role in NaCl and HCO3 absorption. The inventor has developed rabbit polyclonal antibodies directed against a peptide sequence common to human, rat and mouse NHE3.

Polyclonal Antibodies to Thiazide-Sensitive Sodium-Chloride Cotransporter (NCC)

Antibodies to thiazide-sensitive sodium-chloride cotransporter (NCC), useful for immunoblotting and immunocytochemistry, are available to resell for research purposes. NCC is found on the apical membrane of the distal convoluted tubule, where it is the principal mediator of Na+ and CI- reabsorption in this segment of the nephron. NCC is the target of thiazide diuretics used in the treatment of hypertension. The inventors have developed rabbit polyclonal antibodies directed against a peptide sequence in the C-terminal region of NCC.

Polyclonal Antibodies to NKCC2, a Kidney-Specific Member of the Cation Chloride Co-transporter Family, SLC12A1

Antibodies to NKCC2, useful for immunoblotting and immunocytochemistry, are available to resell for research purposes. NKCC2 is found on the apical surface of the thick ascending limb of the loop of Henle, where it facilitates transport of sodium, potassium, and chloride ions from the lumen of the renal thick ascending limb into the cell. Transport of sodium dilutes the luminal fluid, decreasing its osmolality creating an osmotic driving force for water reabsorption in the connecting tubule and cortical collecting duct under the influence of the hormone vasopressin.