Ines E. Royaux

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model (2004)

Wangemann, Philine, Itza, Erin M, Albrecht, Beatrice, Wu, Tao, Jabba, Sairam V, Maganti, Rajanikanth J, ...

Abstract Background Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin. We...

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome (2002)

Rotman-Pikielny, Pnina, Hirschberg, Koret, Maruvada, Padma, Suzuki, Koichi, Royaux, Ines E., Green, Eric D., ...

Pendred syndrome is a major cause of congenital deafness, goiter and defective iodide organification. Mutations in the transmembrane protein, pendrin, cause diminished export of iodide from thyroid...

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Royaux, Ines E., Wall, Susan M., Karniski, Lawrence P., Everett, Lorraine A., Suzuki, Koichi, Knepper, Mark A., ...

Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter. Previous studies...

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

Wangemann, Philine, Itza, Erin M, Albrecht, Beatrice, Wu, Tao, Jabba, Sairam V, Maganti, Rajanikanth J, ...

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

Royaux, Ines E., Wall, Susan M., Karniski, Lawrence P., Everett, Lorraine A., Suzuki, Koichi, Knepper, Mark A., ...

Pendrin is an anion transporter encoded by the PDS/Pds gene. In humans, mutations in PDS cause the genetic disorder Pendred syndrome, which is associated with deafness and goiter. Previous studies...

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

Wangemann, Philine, Itza, Erin M, Albrecht, Beatrice, Wu, Tao, Jabba, Sairam V, Maganti, Rajanikanth J, ...