DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL; NDI2

Literature (5)

Literature for OMIM 125800: DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL; NDI2

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Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum., Buck TM,Eledge J,Skach WR, Am J Physiol Cell Physiol. November 1, 2004; 287(5):1522-1563.
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus., Kamsteeg EJ,Bichet DG,Konings IB,Nivet H,Lonergan M,Arthus MF,van Os CH,Deen PM, J Cell Biol. December 8, 2003; 163(5):1540-8140.
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families., Lin SH,Bichet DG,Sasaki S,Kuwahara M,Arthus MF,Lonergan M,Lin YF, J Clin Endocrinol Metab. June 1, 2002; 87(6):0021-972X.
Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene., Suga H,Nagasaki H,Kondo TA,Okajima Y,Suzuki C,Ozaki N,Arima H,Yamamoto T,Ozaki N,Akai M,Sato A,Uozumi N,Inoue M,Hasegawa M,Oiso Y, Endocrinology. November 1, 2008; 149(11):1945-7170.
Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus., Saglar Ozer E,Moeller HB,Karaduman T,Fenton RA,Mergen H, Cell Mol Life Sci. March 1, 2020; 77(5):1420-9071.

Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum., Buck TM,Eledge J,Skach WR, Am J Physiol Cell Physiol. November 1, 2004; 287(5):1522-1563.

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus., Kamsteeg EJ,Bichet DG,Konings IB,Nivet H,Lonergan M,Arthus MF,van Os CH,Deen PM, J Cell Biol. December 8, 2003; 163(5):1540-8140.

Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families., Lin SH,Bichet DG,Sasaki S,Kuwahara M,Arthus MF,Lonergan M,Lin YF, J Clin Endocrinol Metab. June 1, 2002; 87(6):0021-972X.

Novel treatment for lithium-induced nephrogenic diabetes insipidus rat model using the Sendai-virus vector carrying aquaporin 2 gene., Suga H,Nagasaki H,Kondo TA,Okajima Y,Suzuki C,Ozaki N,Arima H,Yamamoto T,Ozaki N,Akai M,Sato A,Uozumi N,Inoue M,Hasegawa M,Oiso Y, Endocrinology. November 1, 2008; 149(11):1945-7170.

Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus., Saglar Ozer E,Moeller HB,Karaduman T,Fenton RA,Mergen H, Cell Mol Life Sci. March 1, 2020; 77(5):1420-9071.