The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing.

It forms an object of the present invention a monoclonal antibody or an antigen-binding fragment thereof, which specifically binds to RPS4Y1 protein, preferably to human RPS4Y1, recognizing an epitope comprising sequence Y1 (SEQ ID NO: 3), and/or sequence Y2 (SEQ ID NO: 4) and/or sequence Y3 (SEQ ID NO: 5) of RPS4Y1.

In a further embodiment, it is here claimed a non-invasive method to identify male foetal cells within three months of gestation, said method comprising detecting the presence of RPS4Y1 protein in a maternal biological tissue sample by an antibody or an antigen-binding fragment thereof, according to the present invention.

Classes: G01N33, Y105436

The disclosure relates to methods of preparation of fetal nucleated red blood cells (NRBCs) from biological samples for diagnostic testing.

The present invention relates to methods for detecting, enriching, and analyzing rare cells that are present in the blood, e.g. fetal cells. The invention further features methods of analyzing rare cell(s) to determine the presence of an abnormality, disease or condition in a subject, e.g. a fetus by analyzing a cellular sample from the subject.

A method of screening a cereblon modifying compound for treating a disease or disorder, comprising: obtaining a sample; determining a first protein level of SALL4; administering the cereblon modifying compound to the sample; determining a second protein level of SALL4; comparing the first level and the second protein level of SALL4 to determine if the cereblon modifying compound induces degradation of SALL4; and selecting the cereblon modifying compound that does not induce degradation of SALL4.

A method of screening a cereblon modifying compound for treating a disease or disorder, comprising: obtaining a sample; determining a first protein level of SALL4; administering the cereblon modifying compound to the sample; determining a second protein level of SALL4; comparing the first level and the second protein level of SALL4 to determine if the cereblon modifying compound induces degradation of SALL4; and selecting the cereblon modifying compound that does not induce degradation of SALL4.

Disclosed herein are methods and compositions for prognosing or diagnosing an obstructive renal dysfunction or ureteropelvic junction obstruction (UPJO) in a subject, involving detecting in a urine sample from a subject one or more proteins selected from the group consisting of Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR);

Nicotinate-nucleotide pyrophosphorylase [carboxylating] (QPRT); Prostaglandin reductase 1 (PTGR1); Vascular cell adhesion protein 1 (VCAM1); and Ficolin-2 (FCN2), or detectable portions thereof to identify the subject as at risk of or having an obstructive renal dysfunction or UPJO.

The present invention relates to a pharmaceutical composition for the prevention or treatment of CFC (cardiofaciocutaneous) syndrome comprising a TGF-β signaling pathway inhibitor or a BMP signaling pathway activator. The treatment of SB-431542 or BMP4 protein was confirmed to increase the ALP activity and bone mineral deposition in the osteoblasts originated from the induced pluripotent stem cells derived from CFC syndrome patients. Thus, the TGF-β signaling pathway inhibitor containing SB-431542 or the BMP signaling pathway activator containing BMP4 protein can be effectively used for the prevention or treatment of CFC syndrome.

Systems and methods for performing quantitative histopathology analysis for determining tissue potency are disclosed. According to some embodiments, a method training a tissue classifier is provided. According to the method, training the tissue classifier includes generating feature fingerprints of detected nuclei within slide images in a control library and clustering the slide images based on their corresponding feature fingerprints. According to some embodiments, a method for utilizing the trained tissue classifier is provided. According to the method, the trained tissue classifier determines whether tissue in an unknown slide image corresponds to slide images clustered during the training of the tissue classifier.

The present invention is related to the in vitro use of lyso-Gb1 as a draggable target in the development of a drug, and to antagonist of lyso-Gb1 for use in the treatment and/or prevention of a disease, wherein the disease is Gaucher disease or Parkinson's disease.