Invention Grant
- Patent Title: Mutations in DSTYK cause dominant urinary tract malformations
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Application No.: US14783078Application Date: 2014-04-14
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Publication No.: US10202647B2Publication Date: 2019-02-12
- Inventor: Ali Gharavi , Simone Sanna-Cherchi
- Applicant: THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK
- Applicant Address: US NY New York
- Assignee: The Trustees of Columbia University in the City of New York
- Current Assignee: The Trustees of Columbia University in the City of New York
- Current Assignee Address: US NY New York
- Agency: Beusse Wolter Sanks & Maire
- Agent Timothy van Dyke
- International Application: PCT/US2014/034056 WO 20140414
- International Announcement: WO2014/169294 WO 20141016
- Main IPC: C12N15/113
- IPC: C12N15/113 ; C12Q1/6883 ; C07K16/40 ; G01N33/573

Abstract:
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.
Public/Granted literature
- US20160040238A1 Mutations in DSTYK Cause Dominant Urinary Tract Malformations Public/Granted day:2016-02-11
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