Search Results - x-linked

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Conditional V2 Vasopressin Receptor Mutant Mice as a Model to Study X-linked Nephrogenic Diabetes Insipidus (XNDI)
X-linked nephrogenic diabetes insipidus (XNDI) is a severe kidney disease caused by inactivating mutations in the V2 vasopressin receptor (V2R) gene that result in the loss of renal urine-concentrating ability. At present, no specific pharmacological therapy has been developed for XNDI, primarily due to the lack of suitable animal models. This technology...
Published: 10/28/2024   |   Inventor(s): Jurgen Wess
Keywords(s): ACXXXX, AXXXXX, Chromosome 7, monosomy, Conditional, Deletion 7, DIABETES, Insipidus, Mice, MUTANT, Nephrogenic, Nephrogenic diabetes insipidus, Novel, RECEPTOR, RXXXXX, STRATEGY, Studied, treatment, V2, VASOPRESSIN, X-LINKED
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Collaboration Sought > Materials Available, Application > Research Materials
NON-INVASIVE PRENATAL DIAGNOSIS OF SINGLE GENE DISORDERS USING DROPLET DIGITAL PCR
NON-INVASIVE PRENATAL DIAGNOSIS OF SINGLE GENE DISORDERS USING DROPLET DIGITAL PCR Researchers at the Chan Zuckerberg Biohub and Stanford have developed non-invasive methods for detection of fetal autosomal recessive and X-linked diseases during pregnancy. Pre-natal diagnosis of single gene disorders often requires the use of invasive techniques...
Published: 3/17/2023   |   Inventor(s): Stephen Quake, Joan Camunas-Soler
Keywords(s): Autosomal Recessive, Cell-Free DNA, cfDNA, Circulating Cell-Free DNA, Droplet Digital PCR, Fetal Diagnosis, Maternal Blood, Maternal Plasma, Prenatal Diagnosis, X-Linked
Category(s): Technology Classifications > Biology