Keyword Connections

•  Charles Sanders

•  Jerod Denton

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Publications

• A novel channelopathy in pulmonary arterial hypertension.
  Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK
  (2013) N Engl J Med 369: 351-361
• Systemic prostaglandin I2 synthesis is normal in patients with Bartter's syndrome.
  Watson ML, Gill JR, Branch RA, Oates JA, Brash AR
  (1983) Lancet 2: 368-70
• G-protein-independent coupling of MC4R to Kir7.1 in hypothalamic neurons.
  Ghamari-Langroudi M, Digby GJ, Sebag JA, Millhauser GL, Palomino R, Matthews R, Gillyard T, Panaro BL, Tough IR, Cox HM, Denton JS, Cone RD
  (2015) Nature 520: 94-8
• Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
  Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
  (2012) Nature 482: 98-102
• Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter.
  Delpire E, Lu J, England R, Dull C, Thorne T
  (1999) Nat Genet 22: 192-5
• Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.
  Silva JP, Köhler M, Graff C, Oldfors A, Magnuson MA, Berggren PO, Larsson NG
  (2000) Nat Genet 26: 336-40
• The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
  Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
  (2002) Nat Genet 32: 384-92
• Common variants in KCNN3 are associated with lone atrial fibrillation.
  Ellinor PT, Lunetta KL, Glazer NL, Pfeufer A, Alonso A, Chung MK, Sinner MF, de Bakker PI, Mueller M, Lubitz SA, Fox E, Darbar D, Smith NL, Smith JD, Schnabel RB, Soliman EZ, Rice KM, Van Wagoner DR, Beckmann BM, van Noord C, Wang K, Ehret GB, Rotter JI, Hazen SL, Steinbeck G, Smith AV, Launer LJ, Harris TB, Makino S, Nelis M, Milan DJ, Perz S, Esko T, Köttgen A, Moebus S, Newton-Cheh C, Li M, Möhlenkamp S, Wang TJ, Kao WH, Vasan RS, Nöthen MM, MacRae CA, Stricker BH, Hofman A, Uitterlinden AG, Levy D, Boerwinkle E, Metspalu A, Topol EJ, Chakravarti A, Gudnason V, Psaty BM, Roden DM, Meitinger T, Wichmann HE, Witteman JC, Barnard J, Arking DE, Benjamin EJ, Heckbert SR, Kääb S
  (2010) Nat Genet 42: 240-4
• The polar T1 interface is linked to conformational changes that open the voltage-gated potassium channel.
  Minor DL, Lin YF, Mobley BC, Avelar A, Jan YN, Jan LY, Berger JM
  (2000) Cell 102: 657-70
• Molecular basis for interactions of G protein betagamma subunits with effectors.
  Ford CE, Skiba NP, Bae H, Daaka Y, Reuveny E, Shekter LR, Rosal R, Weng G, Yang CS, Iyengar R, Miller RJ, Jan LY, Lefkowitz RJ, Hamm HE
  (1998) Science 280: 1271-4
• A monoclonal antibody to the alpha subunit of Gk blocks muscarinic activation of atrial K+ channels.
  Yatani A, Hamm H, Codina J, Mazzoni MR, Birnbaumer L, Brown AM
  (1988) Science 241: 828-31
• Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
  Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM
  (2016) JAMA 315: 47-57
• Long QT Syndrome and Potentially Pathogenic Genetic Variants--In Reply.
  Van Driest SL, Wells QS, Roden DM
  (2016) JAMA 315: 2467-8
• NKCC1 transporter facilitates seizures in the developing brain.
  Dzhala VI, Talos DM, Sdrulla DA, Brumback AC, Mathews GC, Benke TA, Delpire E, Jensen FE, Staley KJ
  (2005) Nat Med 11: 1205-13
• A channel to neurodegeneration.
  Deutch AY, Winder DG
  (2006) Nat Med 12: 17-8
• Breaking the gene barrier in schizophrenia.
  Horváth S, Mirnics K
  (2009) Nat Med 15: 488-90
• Drug-induced long QT syndrome.
  Kannankeril P, Roden DM, Darbar D
  (2010) Pharmacol Rev 62: 760-81
• Light-dependent redistribution of arrestin in vertebrate rods is an energy-independent process governed by protein-protein interactions.
  Nair KS, Hanson SM, Mendez A, Gurevich EV, Kennedy MJ, Shestopalov VI, Vishnivetskiy SA, Chen J, Hurley JB, Gurevich VV, Slepak VZ
  (2005) Neuron 46: 555-67
• Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
  Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL, Roden DM
  (2002) Circulation 105: 1943-8
• Repolarization reserve: a moving target.
  Roden DM
  (2008) Circulation 118: 981-2
• Role of sulfonylurea receptor type 1 subunits of ATP-sensitive potassium channels in myocardial ischemia/reperfusion injury.
  Elrod JW, Harrell M, Flagg TP, Gundewar S, Magnuson MA, Nichols CG, Coetzee WA, Lefer DJ
  (2008) Circulation 117: 1405-13
• Pulmonary arterial hypertension: future directions: report of a National Heart, Lung and Blood Institute/Office of Rare Diseases workshop.
  Newman JH, Fanburg BL, Archer SL, Badesch DB, Barst RJ, Garcia JG, Kao PN, Knowles JA, Loyd JE, McGoon MD, Morse JH, Nichols WC, Rabinovitch M, Rodman DM, Stevens T, Tuder RM, Voelkel NF, Gail DB, National Heart, Lung and Blood Institute/Office of Rare Diseases
  (2004) Circulation 109: 2947-52
• Low serum magnesium and the development of atrial fibrillation in the community: the Framingham Heart Study.
  Khan AM, Lubitz SA, Sullivan LM, Sun JX, Levy D, Vasan RS, Magnani JW, Ellinor PT, Benjamin EJ, Wang TJ
  (2013) Circulation 127: 33-8
• Screening for acute IKr block is insufficient to detect torsades de pointes liability: role of late sodium current.
  Yang T, Chun YW, Stroud DM, Mosley JD, Knollmann BC, Hong C, Roden DM
  (2014) Circulation 130: 224-34