Search Results - "LIFTON, R. P"

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation by Boyden, L.M., Craiglow, B.G., Hu, R.H., Zhou, J., Browning, J., Eichenfield, L., Lim, Y.L., Luu, M., Randolph, L.M., Ginarte, M., Fachal, L., Rodriguez‐Pazos, L., Vega, A., Kramer, D., Yosipovitch, G., Vahidnezhad, H., Youssefian, L., Uitto, J., Lifton, R.P., Paller, A.S., Milstone, L.M., Choate, K.A.

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Human Hypertension Caused by Mutations in WNK Kinases by Wilson, Frederick H., Disse-Nicodème, Sandra, Choate, Keith A., Ishikawa, Kazuhiko, Nelson-Williams, Carol, Desitter, Isabelle, Gunel, Murat, Milford, David V., Lipkin, Graham W., Achard, Jean-Michel, Feely, Morgan P., Dussol, Bertrand, Berland, Yvon, Unwin, Robert J., Mayan, Haim, Simon, David B., Farfel, Zvi, Jeunemaitre, Xavier, Lifton, Richard P.

“…Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait…”
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Activating Mineralocorticoid Receptor Mutation in Hypertension Exacerbated by Pregnancy by Geller, David S., Farhi, Anita, Pinkerton, Nikki, Fradley, Michael, Moritz, Michael, Spitzer, Adrian, Meinke, Gretchen, Francis T. F. Tsai, Sigler, Paul B., Lifton, Richard P.

“…Hypertension and pregnancy-related hypertension are major public health problems of largely unknown causes. We describe a mutation in the mineralocorticoid…”
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Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome by Schild, L., Lu, Y., Gautschi, I., Schneeberger, E., Lifton, R. P., Rossier, B. C.

“…Liddle syndrome is an autosomal dominant form of hypertension, resulting from mutations in the cytoplasmic C‐terminus of either the beta or gamma subunits of…”
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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption by SIMON, D. B, YIN LU, MCCREDIE, D, MILFORD, D, SANJAD, S, LIFTON, R. P, CHOATE, K. A, VELAZQUEZ, H, AL-SABBAN, E, PRAGA, M, CASARI, G, BETTINELLI, A, COLUSSI, G, RODRIGUEZ-SORIANO, J

“…Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells…”
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Multilocus Linkage Identifies Two New Loci for a Mendelian Form of Stroke, Cerebral Cavernous Malformation, at 7p15–13 and 3q25.2–27 by Craig, Holly D., Günel, Murat, Cepeda, Obed, Johnson, Eric W., Ptacek, Louis, Steinberg, Gary K., Ogilvy, Christopher S., Berg, Michael J., Crawford, Stephen C., Scott, R. Michael, Steichen-Gersdorf, Elizabeth, Sabroe, Ruth, Kennedy, C. T. C., Mettler, Gabrielle, Beis, M. Jill, Fryer, Alan, Awad, Issam A., Lifton, Richard P.

“…Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to…”
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Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life by Cruz, Dinna N., Shaer, Andrea J., Bia, Margaret J., Lifton, Richard P., Simon, David B.

“…Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Gitelman's syndrome (GS), also called Gitelman's variant of…”
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Additional support for the association of SLITRK1 var321 and Tourette syndrome by O'Roak, B J, Morgan, T M, Fishman, D O, Saus, E, Alonso, P, Gratacòs, M, Estivill, X, Teltsh, O, Kohn, Y, Kidd, K K, Cho, J, Lifton, R P, State, M W

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Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis by Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., Di Pietro, A., Walker, W. G., Lifton, R. P.

“…Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis,…”
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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK by SIMON, D. B, KARET, F. E, RODRIGUEZ-SORIANO, J, HAMDAN, J. H, DIPIETRO, A, TRACHTMAN, H, SANJAD, S. A, LIFTON, R. P

“…Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic…”
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Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up by Kadara, H, Choi, M, Zhang, J., Parra, E.R., Rodriguez-Canales, J., Gaffney, S.G., Zhao, Z., Behrens, C., Fujimoto, J., Chow, C., Yoo, Y., Kalhor, N., Moran, C., Rimm, D., Swisher, S., Gibbons, D.L., Heymach, J., Kaftan, E., Townsend, J.P., Lynch, T.J., Schlessinger, J., Lee, J., Lifton, R.P., Wistuba, I.I., Herbst, R.S.

“…Lung adenocarcinomas (LUADs) lead to the majority of deaths attributable to lung cancer. We performed whole-exome sequencing (WES) and immune profiling…”
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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome by Hansson, J.H, Nelson-Williams, C, Suzuki, H, Schild, L, Shimkets, R, Lu, Y, Canessa, C, Iwasaki, T, Rossier, B, Lifton, R.P

“…Sensitivity of blood pressure to dietary salt is a common feature in subjects with hypertension. These features are exemplified by the mendelian disorder,…”
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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter by SIMON, D. B, NELSON-WILLIAMS, C, GAINZA, F. J, GITELMAN, H. J, LIFTON, R. P, BIA, M. J, ELLISON, D, KARET, F. E, MOLINA, A. M, VAARA, I, IWATA, F, CUSHNER, H. M, KOOLEN, M

“…Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular function. Bartter's syndrome is an autosomal recessive disease…”
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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 by Chang, Sue S, Grunder, Stefan, Hanukoglu, Aaron, Rösler, Ariel, Mathew, P.M, Hanukoglu, Israel, Schild, Laurent, Lu, Yin, Shimkets, Richard A, Nelson-Williams, Carol, Rossier, Bernard C, Lifton, Richard P

“…Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt wasting, hyperkalaemia, metabolic…”
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Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons by Griesi-Oliveira, K, Acab, A, Gupta, A R, Sunaga, D Y, Chailangkarn, T, Nicol, X, Nunez, Y, Walker, M F, Murdoch, J D, Sanders, S J, Fernandez, T V, Ji, W, Lifton, R P, Vadasz, E, Dietrich, A, Pradhan, D, Song, H, Ming, G-l, Gu, X, Haddad, G, Marchetto, M C N, Spitzer, N, Passos-Bueno, M R, State, M W, Muotri, A R

“…An increasing number of genetic variants have been implicated in autism spectrum disorders (ASDs), and the functional study of such variants will be critical…”
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Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function by Choi, M., Kadara, H., Zhang, J., Parra, E.R., Rodriguez-Canales, J., Gaffney, S.G., Zhao, Z., Behrens, C., Fujimoto, J., Chow, C., Kim, K., Kalhor, N., Moran, C., Rimm, D., Swisher, S., Gibbons, D.L., Heymach, J., Kaftan, E., Townsend, J.P., Lynch, T.J., Schlessinger, J., Lee, J., Lifton, R.P., Herbst, R.S., Wistuba, I.I.

“…Lung squamous cell carcinoma (LUSC) accounts for 20–30% of non-small cell lung cancers (NSCLCs). There are limited treatment strategies for LUSC in part due to…”
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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I by Lifton, Richard P, Geller, David S, Rodriguez-Soriano, Juan, Boado, Alfredo V, Schifter, Søren, Bayer, Milan, Chang, Sue S

“…Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis,…”
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Genetic Determinants of Human Hypertension by Lifton, Richard P.

“…Hypertension is a common trait of multifactorial determination imparting an increased risk of myocardial infarction, stroke, and end-stage renal disease. The…”
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Cloning of the NCX2 isoform of the plasma membrane Na(+)-Ca2+ exchanger by ZHAOPING LI, MATSUOKA, S, HRYSHKO, L. V, NICOLL, D. A, BERSOHN, M. M, BURKE, E. P, LIFTON, R. P, PHILIPSON, K. D

“…The Na(+)-Ca2+ exchanger is an important regulator of cellular Ca2+ levels, and one isoform of this transporter, NCX1, has been cloned previously (Nicoll,…”
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The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes by Simon, D B, Lifton, R P

“…Hypokalemic alkalosis with low blood pressure can be caused by a number of medications or alternatively as an autosomal recessive genetic trait. Molecular…”
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