C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 15/12 (2006.01) C12N 15/63 (2006.01) G01N 33/68 (2006.01)
Patent
CA 2305714
Methods of identifying agonists or antagonists of the CLCNKB gene and the protein it encodes are disclosed. The invention also relates to the use of such agents to treat hypertension, conditions involving abnormal fluid volume and congestive heart failure and conditions related thereto. Also provided are compositions and methods for determining whether a patient is affected by or carries a mutation in the CLCNKB gene or the proteins they encode. The invention also relates to specific mutated nucleic acid sequences of the CLCNKB gene that give rise to Bartter's Syndrome Type III.
On décrit des procédé d'identification d'agonistes et d'antagonistes du gène CLCNKB et de la protéine codée par ce dernier. L'invention concerne aussi l'utilisation desdits agents pour traiter l'hypertension, des maladies associées à un volume liquidien anormal et à une insuffisance cardiaque globale ou d'autres affections connexes. On décrit également des compositions et des procédés qui permettent de déterminer si un patient est affecté par ou porte une mutation du gène CLCNKB ou des protéines codée par ce dernier. L'invention concerne enfin des séquences spécifiques mutées d'acide nucléique du gène CLCNKB provoquant le syndrome de Bartter type III.
Lifton Richard P.
Simon David B.
Gowling Lafleur Henderson Llp
Lifton Richard P.
Simon David B.
Yale University
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