Gene Review:
CLDN16 - claudin 16
Homo sapiens
Synonyms:
Claudin-16, HOMG3, PCLN-1, PCLN1, Paracellin-1
- Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. Meij, I.C., van den Heuvel, L.P., Hemmes, S., van der Vliet, W.A., Willems, J.L., Monnens, L.A., Knoers, N.V. Nephrol. Dial. Transplant. (2003)
- Paracellin-1 and the modulation of ion selectivity of tight junctions. Hou, J., Paul, D.L., Goodenough, D.A. J. Cell. Sci. (2005)
- Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. Müller, D., Kausalya, P.J., Bockenhauer, D., Thumfart, J., Meij, I.C., Dillon, M.J., van't Hoff, W., Hunziker, W. J. Clin. Endocrinol. Metab. (2006)
- Paracellin-1 gene mutation with multiple congenital abnormalities. Türkmen, M., Kasap, B., Soylu, A., Böber, E., Konrad, M., Kavukçu, S. Pediatr. Nephrol. (2006)
- Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Weber, S., Schneider, L., Peters, M., Misselwitz, J., Rönnefarth, G., Böswald, M., Bonzel, K.E., Seeman, T., Suláková, T., Kuwertz-Bröking, E., Gregoric, A., Palcoux, J.B., Tasic, V., Manz, F., Schärer, K., Seyberth, H.W., Konrad, M. J. Am. Soc. Nephrol. (2001)
- Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Simon, D.B., Lu, Y., Choate, K.A., Velazquez, H., Al-Sabban, E., Praga, M., Casari, G., Bettinelli, A., Colussi, G., Rodriguez-Soriano, J., McCredie, D., Milford, D., Sanjad, S., Lifton, R.P. Science (1999)
- Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16. Kausalya, P.J., Amasheh, S., Günzel, D., Wurps, H., Müller, D., Fromm, M., Hunziker, W. J. Clin. Invest. (2006)
- Hydrochlorothiazide in CLDN16 mutation. Zimmermann, B., Plank, C., Konrad, M., Stöhr, W., Gravou-Apostolatou, C., Rascher, W., Dötsch, J. Nephrol. Dial. Transplant. (2006)
- A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Müller, D., Kausalya, P.J., Claverie-Martin, F., Meij, I.C., Eggert, P., Garcia-Nieto, V., Hunziker, W. Am. J. Hum. Genet. (2003)
- An Unusual Patient with Hypercalciuria, Recurrent Nephrolithiasis, Hypomagnesemia and G227R Mutation of Paracellin-1. An Unusual Patient with Hypercalciuria and Hypomagnesemia Unresponsive to Thiazide Diuretics. Kutluturk, F., Temel, B., Uslu, B., Aral, F., Azezli, A., Orhan, Y., Konrad, M., Ozbey, N. Horm. Res. (2006)
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Weber, S., Hoffmann, K., Jeck, N., Saar, K., Boeswald, M., Kuwertz-Broeking, E., Meij, I.I., Knoers, N.V., Cochat, P., Suláková, T., Bonzel, K.E., Soergel, M., Manz, F., Schaerer, K., Seyberth, H.W., Reis, A., Konrad, M. Eur. J. Hum. Genet. (2000)
- Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. Schuermann, M.J., Otto, E., Becker, A., Saar, K., Rüschendorf, F., Polak, B.C., Ala-Mello, S., Hoefele, J., Wiedensohler, A., Haller, M., Omran, H., Nürnberg, P., Hildebrandt, F. Am. J. Hum. Genet. (2002)
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. Müller, D., Kausalya, P.J., Meij, I.C., Hunziker, W. Hum. Mol. Genet. (2006)
- Endothelia of term human placentae display diminished expression of tight junction proteins during preeclampsia. Liévano, S., Alarcón, L., Chávez-Munguía, B., González-Mariscal, L. Cell Tissue Res. (2006)
- Genetic heterogeneity in familial renal magnesium wasting. Kantorovich, V., Adams, J.S., Gaines, J.E., Guo, X., Pandian, M.R., Cohn, D.H., Rude, R.K. J. Clin. Endocrinol. Metab. (2002)
- Phosphorylation of paracellin-1 at Ser217 by protein kinase A is essential for localization in tight junctions. Ikari, A., Matsumoto, S., Harada, H., Takagi, K., Hayashi, H., Suzuki, Y., Degawa, M., Miwa, M. J. Cell. Sci. (2006)
- A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29. Modamio-Høybjør, S., Moreno-Pelayo, M.A., Mencía, A., del Castillo, I., Chardenoux, S., Armenta, D., Lathrop, M., Petit, C., Moreno, F. Hum. Genet. (2003)
- Inherited hypercalciuric syndromes: Dent's disease (CLC-5) and familial hypomagnesemia with hypercalciuria (paracellin-1). Knohl, S.J., Scheinman, S.J. Semin. Nephrol. (2004)
- Primary gene structure and expression studies of rodent paracellin-1. Weber, S., Schlingmann, K.P., Peters, M., Nejsum, L.N., Nielsen, S., Engel, H., Grzeschik, K.H., Seyberth, H.W., Gröne, H.J., Nüsing, R., Konrad, M. J. Am. Soc. Nephrol. (2001)
- Identification of multiple claudins in the rat epididymis. Gregory, M., Cyr, D.G. Mol. Reprod. Dev. (2006)
- Restricted localization of claudin-16 at the tight junction in the thick ascending limb of henle's loop together with claudins 3, 4, and 10 in bovine nephrons. Ohta, H., Adachi, H., Takiguchi, M., Inaba, M. J. Vet. Med. Sci. (2006)
- Increased renal calcium and magnesium transporter abundance in streptozotocin-induced diabetes mellitus. Lee, C.T., Lien, Y.H., Lai, L.W., Chen, J.B., Lin, C.R., Chen, H.C. Kidney Int. (2006)