The invention provides a method for preparing an expanded renal (kidney) tissue sample suitable for microscopic analysis. Expanding the kidney sample can be achieved by binding, e.g., anchoring, key biomolecules to a polymer network and swelling, or expanding, the polymer network, thereby moving the biomolecules apart as further described herein. As the biomolecules are anchored to the polymer network, isotropic expansion of the polymer network retains the spatial orientation of the biomolecules resulting in an expanded, or enlarged, kidney sample.

The present invention relates to methods and kits for detecting basophil cells activation. The inventors showed that fluorescent avidin binds to basophil cell surface upon degranulation and that this probe can be used to monitor basophil degranulation More specifically the present invention relates to methods for monitoring of basophil degranulation using avidin-based probes. The method of the invention described here allows to measure direct basophil degranulation following FcRI crosslinking with allergen. This method provides a direct measurement of degranulation by staining exteriorized granules and unambiguously detects activated basophils degranulated. The extent of the degranulation can be directly deduced from the intensity of fluorescence of fluorochrome-labelled avidin measured on basophils. When applied to allergic patient samples the avidin-based method detected efficiently specific basophil responses.

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors more than 150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency (IGD) disorders. Here, the inventors reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, they demonstrate that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, the inventors show that the decrease in Emm expression in several IGD patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system and have important implications for understanding the biological function of human free GPI.

Provided herein are compositions, systems, and methods for treating a disease, such as kidney and/or cardiovascular disease, with an agent that reduces the production of trimethylamine (TMA) or trimethylamine-n-oxide (TMAO) in a subject. In certain embodiments, the agent is: i) 3,3-dimethyl-1-butanol (DMB) or a DMB derivative or related compound, ii) acetylsalicylic acid or derivative thereof (e.g., with an enteric coating for delivery to the colon and/or cecum); iii) a flavin monooxygenase 3 (FMO3) inhibitor; iv) a gut TMA lyase inhibitor; v) an antibiotic or antimicrobial; vi) a probiotic or prebiotic; vii) an antiplatelet agent; or viii) a TMA and/or TMAO sequestering agent.

The present invention relates to a biomarker for diagnosis of overactive bladder (OAB) disease, and a method for screening a drug using the biomarker. The markers described in the present invention can effectively detect or diagnose the onset of OAB by distinguishing them from normal populations. In particular, OAB-specific protein markers released into urine enable simple and rapid OAB diagnosis in a non-invasive manner. In addition, by selecting an agent that changes, particularly normalizes the expression and activity of the markers selected in the present invention, more effective preventative or therapeutic agents of OAB disease can be screened.

The technology described herein is directed to the diagnosis and treatment of androgen disorders and/or deficiencies, e.g. low testosterone.

Provided herein are compositions, systems, and methods for treating a disease, such as kidney and/or cardiovascular disease, with an agent that reduces the production of trimethylamine (TMA) or trimethylamine-n-oxide (TMAO) in a subject. In certain embodiments, the agent is: i) 3,3-dimethyl-1-butanol (DMB) or a DMB derivative or related compound, ii) acetylsalicylic acid or derivative thereof (e.g., with an enteric coating for delivery to the colon and/or cecum); iii) a flavin monooxygenase 3 (FMO3) inhibitor; iv) a gut TMA lyase inhibitor; v) an antibiotic or antimicrobial; vi) a probiotic or prebiotic; vii) an antiplatelet agent; or viii) a TMA and/or TMAO sequestering agent.

An in vitro method for diagnosing a urological cancer comprising the comparison of a secretome of isolated cells from a urine sample from a patient to be diagnosed with respect: either to a reference secretome obtained from secretions of healthy isolated cells from a urine sample from a healthy person, or to a reference secretome obtained from secretions of healthy cells which are derivatives of standard cell line cultures, characteristic of a determined urological organ, the secretome and the reference secretome being constituted of all the components forming the respective secretions thereof.

The present invention relates to methods for detecting, diagnosing and/or treating ulcerative interstitial cystitis (UIC) by detecting in a urine sample from a patient the levels of each of the proteins IL-6, IL-8 and GRO [also known as CXCL 1 (chemokine C-X-C motif ligand 1]. In some embodiments, the method also includes diagnosing the patient with UIC when each of the proteins IL-6, IL-8 and GRO in the urine sample is at a different level than a statistically validated threshold for the respective proteins. In some embodiments a companion diagnostic, e.g., a cystoscopy, is used in conjunction with the protein biomarker diagnostic. In some embodiments, once UIC is diagnosed, the patient is treated for the UIC.

Congenital abnormalities of the kidney or the urinary tract (CAKUT) are the most common cause of pediatric kidney failure. These disorders are highly heterogenous, and their etiology is poorly understood. Dual serine/threonine and tyrosine protein kinase (DSTYK) mutations were detected in 2.2% of patients with congenital abnormalities of the kidney and urinary tract, suggesting that DSTYK is a major determinant of human urinary development, downstream of fibroblast growth factor (FGF) signaling. Methods and kits are provided for identifying and treating subjects at greater risk of developing CAKUT based on the presence of DSTYK mutations. Techniques include obtaining a biological sample from a subject and determining if the biological sample indicates a mutation of a gene for DSTYK. If it is determined that the biological sample indicates the mutation of the gene for DSTYK, then it is determined that the subject has or is at risk of developing CAKUT.