Keyword Connections

•  Alexander Zaika
•  Alissa Weaver

•  Laura Shackleford
•  Sandra Zinkel

•  Serk In Park

Resources

• B6.Slc3a1{em1}/Vu

Communities

• Zinkel Lab

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
• Patterns and rates of exonic de novo mutations in autism spectrum disorders.
  Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ
  (2012) Nature 485: 242-5
• Non-optimal codon usage is a mechanism to achieve circadian clock conditionality.
  Xu Y, Ma P, Shah P, Rokas A, Liu Y, Johnson CH
  (2013) Nature 495: 116-20
• Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
  Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ
  (2007) Nat Genet 39: 319-28
• Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
  Germain M, Eyries M, Montani D, Poirier O, Girerd B, Dorfmüller P, Coulet F, Nadaud S, Maugenre S, Guignabert C, Carpentier W, Vonk-Noordegraaf A, Lévy M, Chaouat A, Lambert JC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Amouyel P, de Ravel TJ, Delcroix M, Austin ED, Robbins IM, Hemnes AR, Loyd JE, Berman-Rosenzweig E, Barst RJ, Chung WK, Simonneau G, Trégouët DA, Humbert M, Soubrier F
  (2013) Nat Genet 45: 518-21
• The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.
  Mortlock DP, Post LC, Innis JW
  (1996) Nat Genet 13: 284-9
• Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein.
  Bowman AB, Kamal A, Ritchings BW, Philp AV, McGrail M, Gindhart JG, Goldstein LS
  (2000) Cell 103: 583-94
• G protein-coupled receptors in Anopheles gambiae.
  Hill CA, Fox AN, Pitts RJ, Kent LB, Tan PL, Chrystal MA, Cravchik A, Collins FH, Robertson HM, Zwiebel LJ
  (2002) Science 298: 176-8
• Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
  GTEx Consortium
  (2015) Science 348: 648-60
• Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history.
  Murff HJ, Spigel DR, Syngal S
  (2004) JAMA 292: 1480-9
• SLAM is a microbial sensor that regulates bacterial phagosome functions in macrophages.
  Berger SB, Romero X, Ma C, Wang G, Faubion WA, Liao G, Compeer E, Keszei M, Rameh L, Wang N, Boes M, Regueiro JR, Reinecker HC, Terhorst C
  (2010) Nat Immunol 11: 920-7
• Inflammation-dependent cerebrospinal fluid hypersecretion by the choroid plexus epithelium in posthemorrhagic hydrocephalus.
  Karimy JK, Zhang J, Kurland DB, Theriault BC, Duran D, Stokum JA, Furey CG, Zhou X, Mansuri MS, Montejo J, Vera A, DiLuna ML, Delpire E, Alper SL, Gunel M, Gerzanich V, Medzhitov R, Simard JM, Kahle KT
  (2017) Nat Med 23: 997-1003
• 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
• The functional impact of SLC6 transporter genetic variation.
  Hahn MK, Blakely RD
  (2007) Annu Rev Pharmacol Toxicol 47: 401-41
• The collagen receptor discoidin domain receptor 2 stabilizes SNAIL1 to facilitate breast cancer metastasis.
  Zhang K, Corsa CA, Ponik SM, Prior JL, Piwnica-Worms D, Eliceiri KW, Keely PJ, Longmore GD
  (2013) Nat Cell Biol 15: 677-87
• The intracellular sensor NLRP3 mediates key innate and healing responses to influenza A virus via the regulation of caspase-1.
  Thomas PG, Dash P, Aldridge JR, Ellebedy AH, Reynolds C, Funk AJ, Martin WJ, Lamkanfi M, Webby RJ, Boyd KL, Doherty PC, Kanneganti TD
  (2009) Immunity 30: 566-75
• Satisfaction with work-life balance and the career and retirement plans of US oncologists.
  Shanafelt TD, Raymond M, Kosty M, Satele D, Horn L, Pippen J, Chu Q, Chew H, Clark WB, Hanley AE, Sloan J, Gradishar WJ
  (2014) J Clin Oncol 32: 1127-35
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
  Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW
  (2011) Neuron 70: 863-85
• Tyrosine kinase potentiates NMDA receptor currents by reducing tonic zinc inhibition.
  Zheng F, Gingrich MB, Traynelis SF, Conn PJ
  (1998) Nat Neurosci 1: 185-91
• Dietary linolenic acid is inversely associated with calcified atherosclerotic plaque in the coronary arteries: the National Heart, Lung, and Blood Institute Family Heart Study.
  Djoussé L, Arnett DK, Carr JJ, Eckfeldt JH, Hopkins PN, Province MA, Ellison RC, Investigators of the NHLBI FHS
  (2005) Circulation 111: 2921-6
• Heritability, linkage, and genetic associations of exercise treadmill test responses.
  Ingelsson E, Larson MG, Vasan RS, O'Donnell CJ, Yin X, Hirschhorn JN, Newton-Cheh C, Drake JA, Musone SL, Heard-Costa NL, Benjamin EJ, Levy D, Atwood LD, Wang TJ, Kathiresan S
  (2007) Circulation 115: 2917-24
• Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
  Cogan J, Austin E, Hedges L, Womack B, West J, Loyd J, Hamid R
  (2012) Circulation 126: 1907-16
• Autonomic Nervous System in Pulmonary Arterial Hypertension: Time to Rest and Digest.
  Hemnes AR, Brittain EL
  (2018) Circulation 137: 925-927
• Stem cell-derived cardiomyocytes as a tool for studying proarrhythmia: a better canary in the coal mine?
  Roden DM, Hong CC
  (2013) Circulation 127: 1641-3
• Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.
  Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP
  (2015) Mol Psychiatry 20: 118-25
• Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.
  Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C, Curatolo P, Manzi B, Schneider C, Melmed R, Elia M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM
  (2009) Mol Psychiatry 14: 705-18
• Disease-specific changes in regulator of G-protein signaling 4 (RGS4) expression in schizophrenia.
  Mirnics K, Middleton FA, Stanwood GD, Lewis DA, Levitt P
  (2001) Mol Psychiatry 6: 293-301
• Lack of association between autism and SLC25A12.
  Rabionet R, McCauley JL, Jaworski JM, Ashley-Koch AE, Martin ER, Sutcliffe JS, Haines JL, DeLong GR, Abramson RK, Wright HH, Cuccaro ML, Gilbert JR, Pericak-Vance MA
  (2006) Am J Psychiatry 163: 929-31
• AT1A angiotensin receptors in the renal proximal tubule regulate blood pressure.
  Gurley SB, Riquier-Brison ADM, Schnermann J, Sparks MA, Allen AM, Haase VH, Snouwaert JN, Le TH, McDonough AA, Koller BH, Coffman TM
  (2011) Cell Metab 13: 469-475
• Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers.
  Mukherjee B, Delancey JO, Raskin L, Everett J, Jeter J, Begg CB, Orlow I, Berwick M, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Culver HA, Rosso S, Zanetti R, Kanetsky PA, From L, Gruber SB, GEM Study Investigators
  (2012) J Natl Cancer Inst 104: 953-6
• Utility of Nontraditional Risk Markers in Atherosclerotic Cardiovascular Disease Risk Assessment.
  Yeboah J, Young R, McClelland RL, Delaney JC, Polonsky TS, Dawood FZ, Blaha MJ, Miedema MD, Sibley CT, Carr JJ, Burke GL, Goff DC, Psaty BM, Greenland P, Herrington DM
  (2016) J Am Coll Cardiol 67: 139-147
• Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
  Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ
  (2004) J Am Coll Cardiol 44: 1903-10
• Genetics and genomics of pulmonary arterial hypertension.
  Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M
  (2013) J Am Coll Cardiol 62: D13-21
• Vasodilator-responsive idiopathic pulmonary arterial hypertension: evidence for a new disease?
  Brittain EL, Hemnes AR
  (2015) Ann Intern Med 162: 148-9
• Spatial working memory deficits in the relatives of schizophrenic patients.
  Park S, Holzman PS, Goldman-Rakic PS
  (1995) Arch Gen Psychiatry 52: 821-8
• Amphiregulin-deficient mice develop spasmolytic polypeptide expressing metaplasia and intestinal metaplasia.
  Nam KT, Lee HJ, Mok H, Romero-Gallo J, Crowe JE, Peek RM, Goldenring JR
  (2009) Gastroenterology 136: 1288-96
• Epidermal growth factor-related peptides and their relevance to gastrointestinal pathophysiology.
  Barnard JA, Beauchamp RD, Russell WE, Dubois RN, Coffey RJ
  (1995) Gastroenterology 108: 564-80
• Potentiation of oxyntic atrophy-induced gastric metaplasia in amphiregulin-deficient mice.
  Nam KT, Varro A, Coffey RJ, Goldenring JR
  (2007) Gastroenterology 132: 1804-19
• Intrarenal dopamine deficiency leads to hypertension and decreased longevity in mice.
  Zhang MZ, Yao B, Wang S, Fan X, Wu G, Yang H, Yin H, Yang S, Harris RC
  (2011) J Clin Invest 121: 2845-54