17 results for author:"Nelson-Williams C." in Literature citations
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| Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Scholl U.I., Nelson-Williams C., Yue P., Grekin R., Wyatt R.J., Dillon M.J., Couch R., Hammer L.K., Harley F.L., Farhi A. et al. Proc. Natl. Acad. Sci. U.S.A. 109:2533-2538(2012) · UniProtKB (1) · Mapped (5) |
| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Boyden L.M., Choi M., Choate K.A., Nelson-Williams C.J., Farhi A., Toka H.R., Tikhonova I.R., Bjornson R., Mane S.M., Colussi G. et al. |
| K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Choi M., Scholl U.I., Yue P., Bjorklund P., Zhao B., Nelson-Williams C., Ji W., Cho Y., Patel A., Men C.J. et al. |
| Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Choate K.A., Lu Y., Zhou J., Choi M., Elias P.M., Farhi A., Nelson-Williams C., Crumrine D., Williams M.L., Nopper A.J. et al. Science 330:94-97(2010) · UniProtKB (1) |
| Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. Petersen K.F., Dufour S., Hariri A., Nelson-Williams C., Foo J.N., Zhang X.M., Dziura J., Lifton R.P., Shulman G.I. N. Engl. J. Med. 362:1082-1089(2010) · Mapped (3) |
| Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Choi M., Scholl U.I., Ji W., Liu T., Tikhonova I.R., Zumbo P., Nayir A., Bakkaloglu A., Ozen S., Sanjad S. et al. Proc. Natl. Acad. Sci. U.S.A. 106:19096-19101(2009) · UniProtKB (1) |
| Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Scholl U.I., Choi M., Liu T., Ramaekers V.T., Hausler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., Lifton R.P. Proc. Natl. Acad. Sci. U.S.A. 106:5842-5847(2009) · UniProtKB (1) · Mapped (3) |
| LRP6 mutation in a family with early coronary disease and metabolic risk factors. Mani A., Radhakrishnan J., Wang H., Mani A., Mani M.-A., Nelson-Williams C., Carew K.S., Mane S., Najmabadi H., Wu D. et al. |
| Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Lalioti M.D., Zhang J., Volkman H.M., Kahle K.T., Hoffmann K.E., Toka H.R., Nelson-Williams C., Ellison D.H., Flavell R., Booth C.J. et al. Nat. Genet. 38:1124-1132(2006) · Mapped (4) |
| WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Choate K.A., Kahle K.T., Wilson F.H., Nelson-Williams C., Lifton R.P. Proc. Natl. Acad. Sci. U.S.A. 100:663-668(2003) · Mapped (6) |
| Human hypertension caused by mutations in WNK kinases. Wilson F.H., Disse-Nicodeme S., Choate K.A., Ishikawa K., Nelson-Williams C., Desitter I., Gunel M., Milford D.V., Lipkin G.W., Achard J.-M. et al. |
| Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Simon D.B., Bindra R.S., Mansfield T.A., Nelson-Williams C., Mendonca E., Stone R., Schurman S., Nayir A., Alpay H., Bakkaloglu A. et al. |
| Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Chang S.S., Grunder S., Hanukoglu A., Roesler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C. et al. |
| Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Simon D.B., Nelson-Williams C., Bia M.J., Ellison D., Karet F.E., Molina A.M., Vaara I., Iwata F., Cushner H.M., Koolen M. et al. Nat. Genet. 12:24-30(1996) · UniProtKB (1) |
| A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Hansson J.H., Schild L., Lu Y., Wilson T.A., Gautschi I., Shimkets R.A., Nelson-Williams C., Rossier B.C., Lifton R.P. Proc. Natl. Acad. Sci. U.S.A. 92:11495-11499(1995) · UniProtKB (1) |
| Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Shimkets R.A., Warnock D.G., Bositis C.M., Nelson-Williams C., Hansson J.H., Schambelan M., Gill J.R., Ulick S., Milora R.V., Findling J.W. et al. |
| Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R.A., Lu Y., Canessa C.M., Iwasaki T., Rossier B.C., Lifton R.P. |