cardiovascular system disease

Literature (144)

Literature for DOID 1287: cardiovascular system disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D,Cristóbal PS,Meade P,Moreno E,Vazquez N,Muñoz E,Díaz A,Juárez ME,Giménez I,Gamba G, J Biol Chem. September 29, 2006; 281(39):1083-351X.
Transforming growth factor beta signaling, vascular remodeling, and hypertension., August P,Suthanthiran M, N Engl J Med. June 22, 2006; 354(25):1533-4406.
The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome., Lu CW,Lin JH,Rajawat YS,Jerng H,Rami TG,Sanchez X,DeFreitas G,Carabello B,DeMayo F,Kearney DL,Miller G,Li H,Pfaffinger PJ,Bowles NE,Khoury DS,Towbin JA, J Med Genet. August 1, 2006; 43(8):1468-6244.
Emilin1 links TGF-beta maturation to blood pressure homeostasis., Zacchigna L,Vecchione C,Notte A,Cordenonsi M,Dupont S,Maretto S,Cifelli G,Ferrari A,Maffei A,Fabbro C,Braghetta P,Marino G,Selvetella G,Aretini A,Colonnese C,Bettarini U,Russo G,Soligo S,Adorno M,Bonaldo P,Volpin D,Piccolo S,Lembo G,Bressan GM, Cell. March 10, 2006; 124(5):1097-4172.
WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway., de Los Heros P,Kahle KT,Rinehart J,Bobadilla NA,Vázquez N,San Cristobal P,Mount DB,Lifton RP,Hebert SC,Gamba G, Proc Natl Acad Sci U S A. February 7, 2006; 103(6):1091-6490.
WNK kinases and the control of blood pressure., Cope G,Golbang A,O'Shaughnessy KM, Pharmacol Ther. May 1, 2005; 106(2):0163-7258.
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations., Splawski I,Timothy KW,Decher N,Kumar P,Sachse FB,Beggs AH,Sanguinetti MC,Keating MT, Proc Natl Acad Sci U S A. June 7, 2005; 102(23):1091-6490.
Polymorphic ventricular tachycardia and KCNJ2 mutations., Chun TU,Epstein MR,Dick M,Andelfinger G,Ballester L,Vanoye CG,George AL,Benson DW, Heart Rhythm. July 1, 2004; 1(2):1547-5271.
The influence of extracellular acidosis on the effect of IKr blockers., Lin C,Ke X,Cvetanovic I,Ranade V,Somberg J, J Cardiovasc Pharmacol Ther. March 1, 2005; 10(1):1074-2484.
The MinK-related peptides., McCrossan ZA,Abbott GW, Neuropharmacology. November 1, 2004; 47(6):1873-7064.
A structural basis for the acute effects of HIV protease inhibitors on GLUT4 intrinsic activity., Hertel J,Struthers H,Horj CB,Hruz PW, J Biol Chem. December 31, 2004; 279(53):1083-351X.
Characterization of embryonic cardiac pacemaker and atrioventricular conduction physiology in Xenopus laevis using noninvasive imaging., Bartlett HL,Scholz TD,Lamb FS,Weeks DL, Am J Physiol Heart Circ Physiol. June 1, 2004; 286(6):0363-6135.
A single nucleotide polymorphism alters the activity of the renal Na+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity., Moreno E,Tovar-Palacio C,de los Heros P,Guzmán B,Bobadilla NA,Vázquez N,Riccardi D,Poch E,Gamba G, J Biol Chem. April 16, 2004; 279(16):1083-351X.
The role of ZIC3 in vertebrate development., Herman GE,El-Hodiri HM, Cytogenet Genome Res. January 1, 2002; 99(1-4):1424-859X.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy., Robitaille J,MacDonald ML,Kaykas A,Sheldahl LC,Zeisler J,Dubé MP,Zhang LH,Singaraja RR,Guernsey DL,Zheng B,Siebert LF,Hoskin-Mott A,Trese MT,Pimstone SN,Shastry BS,Moon RT,Hayden MR,Goldberg YP,Samuels ME, Nat Genet. October 1, 2002; 32(2):1546-1718.
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.
Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein., Kasahara H,Wakimoto H,Liu M,Maguire CT,Converso KL,Shioi T,Huang WY,Manning WJ,Paul D,Lawitts J,Berul CI,Izumo S, J Clin Invest. July 1, 2001; 108(2):1558-8238.
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G)., Baroudi G,Pouliot V,Denjoy I,Guicheney P,Shrier A,Chahine M, Circ Res. June 22, 2001; 88(12):1524-4571.
Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease., Kathiriya IS,Srivastava D, Am J Med Genet. January 1, 2000; 97(4):0148-7299.
Direct inhibition of expressed cardiac l- and t-type calcium channels by igg from mothers whose children have congenital heart block., Xiao GQ,Hu K,Boutjdir M, Circulation. March 20, 2001; 103(11):1524-4539.
Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome., Ficker E,Thomas D,Viswanathan PC,Dennis AT,Priori SG,Napolitano C,Memmi M,Wible BA,Kaufman ES,Iyengar S,Schwartz PJ,Rudy Y,Brown AM, Am J Physiol Heart Circ Physiol. October 1, 2000; 279(4):0363-6135.
Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants., Abitbol I,Peretz A,Lerche C,Busch AE,Attali B, EMBO J. August 2, 1999; 18(15):0261-4189.
Molecular mechanisms of vertebrate left-right development., Ramsdell AF,Yost HJ, Trends Genet. November 1, 1998; 14(11):0168-9525.
Characterization of a voltage-gated K+ channel beta subunit expressed in human heart., England SK,Uebele VN,Shear H,Kodali J,Bennett PB,Tamkun MM, Proc Natl Acad Sci U S A. July 3, 1995; 92(14):1091-6490.
Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel., McDonald FJ,Price MP,Snyder PM,Welsh MJ, Am J Physiol. May 1, 1995; 268(5 Pt 1):0002-9513.
Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor., Karp SJ,Masu M,Eki T,Ozawa K,Nakanishi S, J Biol Chem. February 15, 1993; 268(5):1083-351X.
Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.
Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene., Tsuji K,Akao M,Ishii TM,Ohno S,Makiyama T,Takenaka K,Doi T,Haruna Y,Yoshida H,Nakashima T,Kita T,Horie M, J Mol Cell Cardiol. March 1, 2007; 42(3):1095-8584.
Twenty odd years of stretch-sensitive channels., Hamill OP, Pflugers Arch. December 1, 2006; 453(3):1432-2013.
Secreted Frizzled-related protein 2 is a procollagen C proteinase enhancer with a role in fibrosis associated with myocardial infarction., Kobayashi K,Luo M,Zhang Y,Zhang Y,Wilkes DC,Ge G,Grieskamp T,Yamada C,Liu TC,Huang G,Basson CT,Kispert A,Greenspan DS,Sato TN, Nat Cell Biol. January 1, 2009; 11(1):1476-4679.
Biophysical properties of zebrafish ether-à-go-go related gene potassium channels., Scholz EP,Niemer N,Hassel D,Zitron E,Bürgers HF,Bloehs R,Seyler C,Scherer D,Thomas D,Kathöfer S,Katus HA,Rottbauer WA,Karle CA, Biochem Biophys Res Commun. April 3, 2009; 381(2):1090-2104.
Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.
Vestibular asymmetry as the cause of idiopathic scoliosis: a possible answer from Xenopus., Lambert FM,Malinvaud D,Glaunès J,Bergot C,Straka H,Vidal PP, J Neurosci. October 7, 2009; 29(40):1529-2401.
Lessons from the lily pad: Using Xenopus to understand heart disease., Bartlett HL,Weeks DL, Drug Discov Today Dis Models. January 1, 2008; 5(3):1740-6757.
A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels., Gustina AS,Trudeau MC, Proc Natl Acad Sci U S A. August 4, 2009; 106(31):1091-6490.
The BMP pathway acts to directly regulate Tbx20 in the developing heart., Mandel EM,Kaltenbrun E,Callis TE,Zeng XX,Marques SR,Yelon D,Wang DZ,Conlon FL, Development. June 1, 2010; 137(11):1477-9129.
Small molecule disruption of G beta gamma signaling inhibits the progression of heart failure., Casey LM,Pistner AR,Belmonte SL,Migdalovich D,Stolpnik O,Nwakanma FE,Vorobiof G,Dunaevsky O,Matavel A,Lopes CM,Smrcka AV,Blaxall BC, Circ Res. August 20, 2010; 107(4):1524-4571.
An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy., Zhang K,Harada Y,Wei X,Shukla D,Rajendran A,Tawansy K,Bedell M,Lim S,Shaw PX,He X,Yang Z, J Biol Chem. March 25, 2011; 286(12):1083-351X.
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Biochim Biophys Acta. April 1, 2011; 1812(4):0006-3002.
Xenopus: An emerging model for studying congenital heart disease., Kaltenbrun E,Tandon P,Amin NM,Waldron L,Showell C,Conlon FL, Birth Defects Res A Clin Mol Teratol. June 1, 2011; 91(6):1542-0760.
Examining the cardiac NK-2 genes in early heart development., Bartlett H,Veenstra GJ,Weeks DL, Pediatr Cardiol. April 1, 2010; 31(3):1432-1971.
Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K,Akao M,Ishii TM,Ashihara T,Makiyama T,Ohno S,Toyoda F,Dochi K,Matsuura H,Horie M, Biochim Biophys Acta. November 1, 2011; 1812(11):0006-3002.
Structural basis of slow activation gating in the cardiac I Ks channel complex., Strutz-Seebohm N,Pusch M,Wolf S,Stoll R,Tapken D,Gerwert K,Attali B,Seebohm G, Cell Physiol Biochem. January 1, 2011; 27(5):1421-9778.
Thiol-reactive compounds from garlic inhibit the epithelial sodium channel (ENaC)., Krumm P,Giraldez T,Alvarez de la Rosa D,Clauss WG,Fronius M,Althaus M, Bioorg Med Chem. July 1, 2012; 20(13):1464-3391.
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Gene. December 10, 2012; 511(1):1879-0038.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development., Lalani SR,Ware SM,Wang X,Zapata G,Tian Q,Franco LM,Jiang Z,Jiang Z,Bucasas K,Scott DA,Campeau PM,Hanchard N,Umaña L,Cast A,Patel A,Cheung SW,McBride KL,Bray M,Craig Chinault A,Boggs BA,Huang M,Baker MR,Hamilton S,Towbin J,Jefferies JL,Fernbach SD,Potocki L,Belmont JW, Hum Mol Genet. November 1, 2013; 22(21):1460-2083.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT,Yuan S,Pedersen NB,Goth CK,Makova S,Clausen H,Brueckner M,Khokha MK, Nature. December 19, 2013; 504(7480):0143-5221.
Cardiac expression and atrial fibrillation-associated remodeling of K₂p2.1 (TREK-1) K⁺ channels in a porcine model., Schmidt C,Wiedmann F,Tristram F,Anand P,Wenzel W,Lugenbiel P,Schweizer PA,Katus HA,Thomas D, Life Sci. March 3, 2014; 97(2):0024-3205.
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT., Mechakra A,Vincent Y,Chevalier P,Millat G,Ficker E,Jastrzebski M,Poulin H,Pouliot V,Chahine M,Christé G, Gene. February 25, 2014; 536(2):1879-0038.
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.
Multi-functional norrin is a ligand for the LGR4 receptor., Deng C,Reddy P,Cheng Y,Luo CW,Hsiao CL,Hsueh AJ, J Cell Sci. May 1, 2013; 126(Pt 9):1477-9137.
A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs., Stern JA,White SN,Lehmkuhl LB,Reina-Doreste Y,Ferguson JL,Nascone-Yoder NM,Meurs KM, Hum Genet. September 1, 2014; 133(9):1432-1203.
Cloning, functional characterization, and remodeling of K2P3.1 (TASK-1) potassium channels in a porcine model of atrial fibrillation and heart failure., Schmidt C,Wiedmann F,Langer C,Tristram F,Anand P,Wenzel W,Lugenbiel P,Schweizer PA,Katus HA,Thomas D, Heart Rhythm. October 1, 2014; 11(10):1547-5271.
Moving gating charges through the gating pore in a Kv channel voltage sensor., Lacroix JJ,Hyde HC,Campos FV,Bezanilla F, Proc Natl Acad Sci U S A. May 13, 2014; 111(19):1091-6490.
A Gro/TLE-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression., Kaltenbrun E,Greco TM,Slagle CE,Kennedy LM,Li T,Cristea IM,Conlon FL, J Proteome Res. December 6, 2013; 12(12):1535-3907.
TASK-1 and TASK-3 may form heterodimers in human atrial cardiomyocytes., Rinné S,Kiper AK,Schlichthörl G,Dittmann S,Netter MF,Limberg SH,Silbernagel N,Zuzarte M,Moosdorf R,Wulf H,Schulze-Bahr E,Rolfes C,Decher N, J Mol Cell Cardiol. April 1, 2015; 81:1095-8584.
Loss of functional endothelial connexin40 results in exercise-induced hypertension in mice., Morton SK,Chaston DJ,Howitt L,Heisler J,Nicholson BJ,Fairweather S,Bröer S,Ashton AW,Matthaei KI,Hill CE, Hypertension. March 1, 2015; 65(3):1524-4563.
Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E,Sicca F,Brignone MS,D'Adamo MC,Napolitano C,Servettini I,Moro F,Ruan Y,Guglielmi L,Pieroni S,Servillo G,Lanciotti A,Valvo G,Catacuzzeno L,Franciolini F,Molinari P,Marchese M,Grottesi A,Guerrini R,Santorelli FM,Priori S,Pessia M, Hum Mol Genet. September 15, 2014; 23(18):1460-2083.
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.
The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ,Basu B,Khokha M,Brueckner M, Development. December 1, 2015; 142(23):1477-9129.
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.
Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling., Tutakhel OA,Jeleń S,Valdez-Flores M,Dimke H,Piersma SR,Jimenez CR,Deinum J,Lenders JW,Hoenderop JG,Bindels RJ, Am J Physiol Renal Physiol. February 1, 2016; 310(3):1522-1466.
Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome., Refaat MM,El Hage L,Steffensen AB,Hotait M,Schmitt N,Scheinman M,Badhwar N, Card Electrophysiol Clin. March 1, 2016; 8(1):1877-9190.
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M,Jensen JL,Donaldson MR,Sansone V,Meola G,Hahn A,Bendahhou S,Kwiecinski H,Fidzianska A,Plaster N,Fu YH,Ptacek LJ,Tawil R, J Clin Invest. August 1, 2002; 110(3):1558-8238.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction., Stallmeyer B,Kuß J,Kotthoff S,Zumhagen S,Vowinkel K,Rinné S,Matschke LA,Friedrich C,Schulze-Bahr E,Rust S,Seebohm G,Decher N,Schulze-Bahr E, Circ Res. May 12, 2017; 120(10):1524-4571.
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.
Angiopoietin-like 4 Is a Wnt Signaling Antagonist that Promotes LRP6 Turnover., Kirsch N,Chang LS,Koch S,Glinka A,Dolde C,Colozza G,Benitez MDJ,De Robertis EM,Niehrs C, Dev Cell. October 9, 2017; 43(1):1878-1551.
An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling., Lee HC,Lee HC,Rudy Y,Liang H,Chen CC,Luo CH,Sheu SH,Cui J, J Med Biol Eng. October 1, 2017; 37(5):1609-0985.
Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis., Afouda BA,Lynch AT,de Paiva Alves E,Hoppler S, Dev Biol. February 1, 2018; 434(1):1095-564X.
Effects of trimethoprim-sulfadiazine and detomidine on the function of equine Kv 11.1 channels in a two-electrode voltage-clamp (TEVC) oocyte model., Trachsel DS,Tejada MA,Groesfjeld Christensen V,Pedersen PJ,Kanters JK,Buhl R,Calloe K,Klaerke DA, J Vet Pharmacol Ther. August 1, 2018; 41(4):1365-2885.
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results., Chua HC,Servatius H,Asatryan B,Schaller A,Rieubland C,Noti F,Seiler J,Roten L,Baldinger SH,Tanner H,Fuhrer J,Haeberlin A,Lam A,Pless SA,Medeiros-Domingo A, Clin Res Cardiol. August 1, 2018; 107(8):1861-0692.
Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain., Reimers C,Lee CH,Lee CH,Lee CH,Kalbacher H,Tian Y,Hung CH,Schmidt A,Prokop L,Kauferstein S,Mebs D,Chen CC,Gründer S, Proc Natl Acad Sci U S A. April 25, 2017; 114(17):1091-6490.
Atrial fibrillation and heart failure-associated remodeling of two-pore-domain potassium (K2P) channels in murine disease models: focus on TASK-1., Wiedmann F,Schulte JS,Gomes B,Zafeiriou MP,Ratte A,Rathjens F,Fehrmann E,Scholz B,Voigt N,Müller FU,Thomas D,Katus HA,Schmidt C, Basic Res Cardiol. June 7, 2018; 113(4):1435-1803.
SATB1 downregulation induced by oxidative stress participates in trophoblast invasion by regulating β-catenin., Rao H,Bai Y,Li Q,Zhuang B,Yuan Y,Liu Y,Peng W,Baker PN,Tong C,Luo X,Qi H, Biol Reprod. June 1, 2018; 98(6):1529-7268.
Id genes are essential for early heart formation., Cunningham TJ,Yu MS,McKeithan WL,Spiering S,Carrette F,Huang CT,Bushway PJ,Tierney M,Albini S,Giacca M,Mano M,Puri PL,Sacco A,Ruiz-Lozano P,Riou JF,Umbhauer M,Duester G,Mercola M,Colas AR, Genes Dev. July 1, 2017; 31(13):1549-5477.
CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis., Deniz E,Mis EK,Lane M,Khokha MK, Methods Mol Biol. January 1, 2018; 1865:1940-6029.
WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.
S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.
Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.
WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS,Khokha MK, Development. November 28, 2018; 145(23):1477-9129.
Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.
FoxN3 is necessary for the development of the interatrial septum, the ventricular trabeculae and the muscles at the head/trunk interface in the African clawed frog, Xenopus laevis (Lissamphibia: Anura: Pipidae)., Naumann B,Schmidt J,Olsson L, Dev Dyn. May 1, 2019; 248(5):1058-8388.
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance., Berland S,Toft-Bertelsen TL,Aukrust I,Byska J,Vaudel M,Bindoff LA,MacAulay N,Houge G, Cold Spring Harb Mol Case Stud. February 1, 2018; 4(1):2373-2873.
ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier., Gessner G,Runge S,Koenen M,Heinemann SH,Koenen M,Haas J,Meder B,Thomas D,Katus HA,Schweizer PA, Biochem Biophys Res Commun. May 14, 2019; 512(4):1090-2104.
N-glycosylation-dependent regulation of hK2P17.1 currents., Wiedmann F,Schlund D,Voigt N,Ratte A,Kraft M,Katus HA,Schmidt C, Mol Biol Cell. June 1, 2019; 30(12):1939-4586.
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis., Schwenty-Lara J,Nürnberger A,Borchers A, Dev Dyn. June 1, 2019; 248(6):1058-8388.
Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.
Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.
Functional characterization of Kv11.1 (hERG) potassium channels split in the voltage-sensing domain., de la Peña P,Domínguez P,Barros F, Pflugers Arch. July 1, 2018; 470(7):1432-2013.
The molecular determinants of R-roscovitine block of hERG channels., Cernuda B,Fernandes CT,Allam SM,Orzillo M,Suppa G,Chia Chang Z,Athanasopoulos D,Buraei Z, PLoS One. September 3, 2019; 14(9):1932-6203.
Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 6, 2019; 17(9):1545-7885.
Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating., Wang X,Chen J,Shi S,Sheng S,Kleyman TR, J Biol Chem. November 8, 2019; 294(45):1083-351X.
Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies., Deniz E,Jonas S,Khokha MK,Choma MA, Front Physiol. January 1, 2019; 10:1664-042X.
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J,Criscione J,Charney RM,Prasad MS,Hwang WY,Mis EK,García-Castro MI,Khokha MK, J Clin Invest. February 3, 2020; 130(2):1558-8238.
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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome., Rienhoff HY,Yeo CY,Morissette R,Khrebtukova I,Melnick J,Luo S,Leng N,Kim YJ,Schroth G,Westwick J,Vogel H,McDonnell N,Hall JG,Whitman M, Am J Med Genet A. August 1, 2013; 161A(8):1552-4833.

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A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs., Stern JA,White SN,Lehmkuhl LB,Reina-Doreste Y,Ferguson JL,Nascone-Yoder NM,Meurs KM, Hum Genet. September 1, 2014; 133(9):1432-1203.

Cloning, functional characterization, and remodeling of K2P3.1 (TASK-1) potassium channels in a porcine model of atrial fibrillation and heart failure., Schmidt C,Wiedmann F,Langer C,Tristram F,Anand P,Wenzel W,Lugenbiel P,Schweizer PA,Katus HA,Thomas D, Heart Rhythm. October 1, 2014; 11(10):1547-5271.

Moving gating charges through the gating pore in a Kv channel voltage sensor., Lacroix JJ,Hyde HC,Campos FV,Bezanilla F, Proc Natl Acad Sci U S A. May 13, 2014; 111(19):1091-6490.

A Gro/TLE-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression., Kaltenbrun E,Greco TM,Slagle CE,Kennedy LM,Li T,Cristea IM,Conlon FL, J Proteome Res. December 6, 2013; 12(12):1535-3907.

TASK-1 and TASK-3 may form heterodimers in human atrial cardiomyocytes., Rinné S,Kiper AK,Schlichthörl G,Dittmann S,Netter MF,Limberg SH,Silbernagel N,Zuzarte M,Moosdorf R,Wulf H,Schulze-Bahr E,Rolfes C,Decher N, J Mol Cell Cardiol. April 1, 2015; 81:1095-8584.

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Osmostress-induced apoptosis in Xenopus oocytes: role of stress protein kinases, calpains and Smac/DIABLO., Ben Messaoud N,Yue J,Valent D,Katzarova I,López JM, PLoS One. January 1, 2015; 10(4):1932-6203.

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype., Ambrosini E,Sicca F,Brignone MS,D'Adamo MC,Napolitano C,Servettini I,Moro F,Ruan Y,Guglielmi L,Pieroni S,Servillo G,Lanciotti A,Valvo G,Catacuzzeno L,Franciolini F,Molinari P,Marchese M,Grottesi A,Guerrini R,Santorelli FM,Priori S,Pessia M, Hum Mol Genet. September 15, 2014; 23(18):1460-2083.

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.

The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry., Endicott SJ,Basu B,Khokha M,Brueckner M, Development. December 1, 2015; 142(23):1477-9129.

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.

Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling., Tutakhel OA,Jeleń S,Valdez-Flores M,Dimke H,Piersma SR,Jimenez CR,Deinum J,Lenders JW,Hoenderop JG,Bindels RJ, Am J Physiol Renal Physiol. February 1, 2016; 310(3):1522-1466.

Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome., Refaat MM,El Hage L,Steffensen AB,Hotait M,Schmitt N,Scheinman M,Badhwar N, Card Electrophysiol Clin. March 1, 2016; 8(1):1877-9190.

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia., Del Viso F,Huang F,Myers J,Chalfant M,Zhang Y,Zhang Y,Reza N,Bewersdorf J,Lusk CP,Khokha MK, Dev Cell. September 12, 2016; 38(5):1878-1551.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects., Cowan JR,Tariq M,Shaw C,Rao M,Belmont JW,Lalani SR,Smolarek TA,Ware SM, Philos Trans R Soc Lond B Biol Sci. December 19, 2016; 371(1710):1471-2970.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M,Jensen JL,Donaldson MR,Sansone V,Meola G,Hahn A,Bendahhou S,Kwiecinski H,Fidzianska A,Plaster N,Fu YH,Ptacek LJ,Tawil R, J Clin Invest. August 1, 2002; 110(3):1558-8238.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction., Stallmeyer B,Kuß J,Kotthoff S,Zumhagen S,Vowinkel K,Rinné S,Matschke LA,Friedrich C,Schulze-Bahr E,Rust S,Seebohm G,Decher N,Schulze-Bahr E, Circ Res. May 12, 2017; 120(10):1524-4571.

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography., Deniz E,Jonas S,Hooper M,N Griffin J,Choma MA,Khokha MK, Sci Rep. February 14, 2017; 7:2045-2322.

Angiopoietin-like 4 Is a Wnt Signaling Antagonist that Promotes LRP6 Turnover., Kirsch N,Chang LS,Koch S,Glinka A,Dolde C,Colozza G,Benitez MDJ,De Robertis EM,Niehrs C, Dev Cell. October 9, 2017; 43(1):1878-1551.

An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease., Garfinkel AM,Khokha MK, Curr Pathobiol Rep. June 1, 2017; 5(2):2167-485X.

Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling., Lee HC,Lee HC,Rudy Y,Liang H,Chen CC,Luo CH,Sheu SH,Cui J, J Med Biol Eng. October 1, 2017; 37(5):1609-0985.

Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis., Afouda BA,Lynch AT,de Paiva Alves E,Hoppler S, Dev Biol. February 1, 2018; 434(1):1095-564X.

Effects of trimethoprim-sulfadiazine and detomidine on the function of equine Kv 11.1 channels in a two-electrode voltage-clamp (TEVC) oocyte model., Trachsel DS,Tejada MA,Groesfjeld Christensen V,Pedersen PJ,Kanters JK,Buhl R,Calloe K,Klaerke DA, J Vet Pharmacol Ther. August 1, 2018; 41(4):1365-2885.

Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results., Chua HC,Servatius H,Asatryan B,Schaller A,Rieubland C,Noti F,Seiler J,Roten L,Baldinger SH,Tanner H,Fuhrer J,Haeberlin A,Lam A,Pless SA,Medeiros-Domingo A, Clin Res Cardiol. August 1, 2018; 107(8):1861-0692.

Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain., Reimers C,Lee CH,Lee CH,Lee CH,Kalbacher H,Tian Y,Hung CH,Schmidt A,Prokop L,Kauferstein S,Mebs D,Chen CC,Gründer S, Proc Natl Acad Sci U S A. April 25, 2017; 114(17):1091-6490.

Atrial fibrillation and heart failure-associated remodeling of two-pore-domain potassium (K2P) channels in murine disease models: focus on TASK-1., Wiedmann F,Schulte JS,Gomes B,Zafeiriou MP,Ratte A,Rathjens F,Fehrmann E,Scholz B,Voigt N,Müller FU,Thomas D,Katus HA,Schmidt C, Basic Res Cardiol. June 7, 2018; 113(4):1435-1803.

SATB1 downregulation induced by oxidative stress participates in trophoblast invasion by regulating β-catenin., Rao H,Bai Y,Li Q,Zhuang B,Yuan Y,Liu Y,Peng W,Baker PN,Tong C,Luo X,Qi H, Biol Reprod. June 1, 2018; 98(6):1529-7268.

Id genes are essential for early heart formation., Cunningham TJ,Yu MS,McKeithan WL,Spiering S,Carrette F,Huang CT,Bushway PJ,Tierney M,Albini S,Giacca M,Mano M,Puri PL,Sacco A,Ruiz-Lozano P,Riou JF,Umbhauer M,Duester G,Mercola M,Colas AR, Genes Dev. July 1, 2017; 31(13):1549-5477.

CRISPR/Cas9 F0 Screening of Congenital Heart Disease Genes in Xenopus tropicalis., Deniz E,Mis EK,Lane M,Khokha MK, Methods Mol Biol. January 1, 2018; 1865:1940-6029.

WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation., Kulkarni SS,Griffin JN,Date PP,Liem KF,Khokha MK, Dev Cell. September 10, 2018; 46(5):1878-1551.

S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.

Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.

WDR5 regulates left-right patterning via chromatin-dependent and -independent functions., Kulkarni SS,Khokha MK, Development. November 28, 2018; 145(23):1477-9129.

Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus., Sempou E,Lakhani OA,Amalraj S,Khokha MK, Front Physiol. January 1, 2018; 9:1664-042X.

FoxN3 is necessary for the development of the interatrial septum, the ventricular trabeculae and the muscles at the head/trunk interface in the African clawed frog, Xenopus laevis (Lissamphibia: Anura: Pipidae)., Naumann B,Schmidt J,Olsson L, Dev Dyn. May 1, 2019; 248(5):1058-8388.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance., Berland S,Toft-Bertelsen TL,Aukrust I,Byska J,Vaudel M,Bindoff LA,MacAulay N,Houge G, Cold Spring Harb Mol Case Stud. February 1, 2018; 4(1):2373-2873.

ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier., Gessner G,Runge S,Koenen M,Heinemann SH,Koenen M,Haas J,Meder B,Thomas D,Katus HA,Schweizer PA, Biochem Biophys Res Commun. May 14, 2019; 512(4):1090-2104.

N-glycosylation-dependent regulation of hK2P17.1 currents., Wiedmann F,Schlund D,Voigt N,Ratte A,Kraft M,Katus HA,Schmidt C, Mol Biol Cell. June 1, 2019; 30(12):1939-4586.

Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis., Schwenty-Lara J,Nürnberger A,Borchers A, Dev Dyn. June 1, 2019; 248(6):1058-8388.

Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling., Duncan AR,González DP,Del Viso F,Robson A,Khokha MK,Griffin JN, Dev Biol. December 1, 2019; 456(1):1095-564X.

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis., Hwang WY,Marquez J,Khokha MK, Front Physiol. January 1, 2019; 10:1664-042X.

Functional characterization of Kv11.1 (hERG) potassium channels split in the voltage-sensing domain., de la Peña P,Domínguez P,Barros F, Pflugers Arch. July 1, 2018; 470(7):1432-2013.

The molecular determinants of R-roscovitine block of hERG channels., Cernuda B,Fernandes CT,Allam SM,Orzillo M,Suppa G,Chia Chang Z,Athanasopoulos D,Buraei Z, PLoS One. September 3, 2019; 14(9):1932-6203.

Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 6, 2019; 17(9):1545-7885.

Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating., Wang X,Chen J,Shi S,Sheng S,Kleyman TR, J Biol Chem. November 8, 2019; 294(45):1083-351X.

Quantitative Phenotyping of Xenopus Embryonic Heart Pathophysiology Using Hemoglobin Contrast Subtraction Angiography to Screen Human Cardiomyopathies., Deniz E,Jonas S,Khokha MK,Choma MA, Front Physiol. January 1, 2019; 10:1664-042X.

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J,Criscione J,Charney RM,Prasad MS,Hwang WY,Mis EK,García-Castro MI,Khokha MK, J Clin Invest. February 3, 2020; 130(2):1558-8238.

Cardiac telocytes exist in the adult Xenopus tropicalis heart., Lv L,Liao Z,Luo J,Chen H,Guo H,Yang J,Huang R,Pu Q,Zhao H,Yuan Z,Feng S,Qi X,Cai D, J Cell Mol Med. February 1, 2020; 24(4):1582-4934.

Glucocorticoid receptor is required for survival through metamorphosis in the frog Xenopus tropicalis., Sterner ZR,Shewade LH,Mertz KM,Sturgeon SM,Buchholz DR, Gen Comp Endocrinol. May 15, 2020; 291:1095-6840.

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants., Landim-Vieira M,Johnston JR,Ji W,Mis EK,Tijerino J,Spencer-Manzon M,Jeffries L,Hall EK,Panisello-Manterola D,Khokha MK,Deniz E,Chase PB,Lakhani SA,Pinto JR, Front Physiol. January 1, 2019; 10:1664-042X.

Antiarrhythmic Properties of Ranolazine: Inhibition of Atrial Fibrillation Associated TASK-1 Potassium Channels., Ratte A,Wiedmann F,Kraft M,Katus HA,Schmidt C, Front Pharmacol. July 3, 2019; 10:1663-9812.

Polyunsaturated fatty acid analogues differentially affect cardiac NaV, CaV, and KV channels through unique mechanisms., Bohannon BM,de la Cruz A,Wu X,Jowais JJ,Perez ME,Dykxhoorn DM,Liin SI,Larsson HP, Elife. March 24, 2020; 9:2050-084X.

Shear force sensing of epithelial Na+ channel (ENaC) relies on N-glycosylated asparagines in the palm and knuckle domains of αENaC., Knoepp F,Ashley Z,Barth D,Baldin JP,Jennings M,Kazantseva M,Saw EL,Katare R,Alvarez de la Rosa D,Weissmann N,Fronius M, Proc Natl Acad Sci U S A. January 7, 2020; 117(1):1091-6490.

Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1., Handklo-Jamal R,Meisel E,Yakubovich D,Vysochek L,Beinart R,Glikson M,McMullen JR,Dascal N,Nof E,Oz S, Front Pharmacol. April 7, 2020; 11:1663-9812.

POPDC2 a novel susceptibility gene for conduction disorders., Rinné S,Ortiz-Bonnin B,Stallmeyer B,Kiper AK,Fortmüller L,Schindler RFR,Herbort-Brand U,Kabir NS,Dittmann S,Friedrich C,Zumhagen S,Gualandi F,Selvatici R,Rapezzi C,Arbustini E,Ferlini A,Fabritz L,Schulze-Bahr E,Brand T,Decher N, J Mol Cell Cardiol. August 1, 2020; 145:1095-8584.

Molecular Regulation of α3β4 Nicotinic Acetylcholine Receptors by Lupeol in Cardiovascular System., Eom S,Kim C,Yeom HD,Lee J,Lee J,Lee S,Baek YB,Na J,Park SI,Kim GY,Lee CM,Lee CM,Lee CM,Lee JH,Lee JH, Int J Mol Sci. June 18, 2020; 21(12):1422-0067.

Contribution of Monocarboxylate Transporter 6 to the Pharmacokinetics and Pharmacodynamics of Bumetanide in Mice., Jones RS,Ruszaj D,Parker MD,Morris ME, Drug Metab Dispos. September 1, 2020; 48(9):1521-009X.

Electrophysiological effects of non-vitamin K antagonist oral anticoagulants on atrial repolarizing potassium channels., Wiedmann F,Schlund D,Kraft M,Nietfeld J,Katus HA,Schmidt C,Thomas D, Europace. September 1, 2020; 22(9):1532-2092.

Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site., Smith SJ,Towers N,Demetriou K,Mohun TJ, PLoS One. July 29, 2020; 15(7):1932-6203.

Uncoupling sodium channel dimers restores the phenotype of a pain-linked Nav 1.7 channel mutation., Rühlmann AH,Körner J,Hausmann R,Bebrivenski N,Neuhof C,Detro-Dassen S,Hautvast P,Benasolo CA,Meents J,Machtens JP,Schmalzing G,Lampert A, Br J Pharmacol. October 1, 2020; 177(19):1476-5381.

Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J,Bhattacharya D,Lusk CP,Khokha MK, Dev Biol. January 1, 2021; 469:1095-564X.

Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking., Erlenhardt N,Kletke O,Wohlfarth F,Komadowski MA,Clasen L,Makimoto H,Rinné S,Kelm M,Jungen C,Decher N,Meyer C,Klöcker N, Pflugers Arch. December 1, 2020; 472(12):1432-2013.

Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity., Kerth CM,Hautvast P,Körner J,Lampert A,Meents JE, J Biol Chem. January 1, 2021; 296:1083-351X.

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A,Rinné S,Moss R,Kääb S,Seemann G,Beckmann BM,Decher N, Int J Mol Sci. January 23, 2021; 22(3):1422-0067.

Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression., González-Garrido A,Domínguez-Pérez M,Jacobo-Albavera L,López-Ramírez O,Guevara-Chávez JG,Zepeda-García O,Iturralde P,Carnevale A,Villarreal-Molina T, Front Cardiovasc Med. February 22, 2021; 8:2297-055X.

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.

Chronic Exposure to Two Gestagens Differentially Alters Morphology and Gene Expression in Silurana tropicalis., Thomson P,Pineda M,Yargeau V,Langlois VS, Arch Environ Contam Toxicol. May 1, 2021; 80(4):0090-4341.

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP., Soh MS,Bagnall RD,Bennett MF,Bleakley LE,Mohamed Syazwan ES,Phillips AM,Chiam MDF,McKenzie CE,Hildebrand M,Crompton D,Bahlo M,Semsarian C,Scheffer IE,Berkovic SF,Reid CA, Ann Clin Transl Neurol. July 1, 2021; 8(7):2328-9503.

Reconstitution of β-adrenergic regulation of CaV1.2: Rad-dependent and Rad-independent protein kinase A mechanisms., Katz M,Subramaniam S,Chomsky-Hecht O,Tsemakhovich V,Flockerzi V,Klussmann E,Hirsch JA,Weiss S,Dascal N, Proc Natl Acad Sci U S A. May 25, 2021; 118(21):1091-6490.

Fosl1 is vital to heart regeneration upon apex resection in adult Xenopus tropicalis., Wu HY,Zhou YM,Liao ZQ,Zhong JW,Liu YB,Zhao H,Liang CQ,Huang RJ,Park KS,Feng SS,Zheng L,Cai DQ,Qi XF, NPJ Regen Med. June 29, 2021; 6(1):2057-3995.

A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB,Willsey HR,Xu Y,Xu Y,Mei Y,Dea J,Wang S,Curtis C,Sempou E,Khokha MK,Chi NC,Willsey AJ,Fisch KM,Ideker T, Cell Syst. November 17, 2021; 12(11):2405-4720.

Mechanosensitive TREK-1 two-pore-domain potassium (K2P) channels in the cardiovascular system., Wiedmann F,Rinné S,Donner B,Decher N,Katus HA,Schmidt C, Prog Biophys Mol Biol. January 1, 2021; 159:1873-1732.

Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.

Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension., Lakk M,Hoffmann GF,Gorusupudi A,Enyong E,Lin A,Bernstein PS,Toft-Bertelsen T,MacAulay N,Elliott MH,Križaj D, J Lipid Res. January 1, 2021; 62:0022-2275.

Virus-Host Interactions of Enteroviruses and Parvovirus B19 in Myocarditis., Ho HT,Peischard S,Strutz-Seebohm N,Seebohm G, Cell Physiol Biochem. November 18, 2021; 55(6):1421-9778.

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease., Sedaghat-Hamedani F,Rebs S,El-Battrawy I,Chasan S,Krause T,Haas J,Zhong R,Liao Z,Xu Q,Zhou X,Zhou X,Akin I,Zitron E,Frey N,Streckfuss-Bömeke K,Kayvanpour E, Int J Mol Sci. November 30, 2021; 22(23):1422-0067.

Functional cross-talk between phosphorylation and disease-causing mutations in the cardiac sodium channel Nav1.5., Galleano I,Harms H,Choudhury K,Khoo K,Delemotte L,Pless SA, Proc Natl Acad Sci U S A. August 17, 2021; 118(33):1091-6490.

ATP and large signaling metabolites flux through caspase-activated Pannexin 1 channels., Narahari AK,Kreutzberger AJ,Gaete PS,Chiu YH,Leonhardt SA,Medina CB,Jin X,Oleniacz PW,Kiessling V,Barrett PQ,Ravichandran KS,Yeager M,Contreras JE,Tamm LK,Bayliss DA, Elife. January 7, 2021; 10:2050-084X.

Mink1 regulates spemann organizer cell fate in the xenopus gastrula via Hmga2., Colleluori V,Khokha MK, Dev Biol. March 1, 2023; 495:1095-564X.

Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels., Zou X,Wu X,Sampson KJ,Colecraft HM,Larsson HP,Kass RS, Front Physiol. January 1, 2022; 13:1664-042X.

Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1., Erlandsdotter LM,Giammarino L,Halili A,Nikesjö J,Gréen H,Odening KE,Liin SI, Sci Adv. March 17, 2023; 9(11):2375-2548.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants., Rinné S,Oertli A,Nagel C,Tomsits P,Jenewein T,Kääb S,Kauferstein S,Loewe A,Beckmann BM,Decher N, Int J Mol Sci. January 10, 2023; 24(2):1422-0067.

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K,Barak T,Kaulen LD,Henegariu O,Jin SC,Aguilera SM,Yalbir E,Goles G,Nishimura S,Miyagishima D,Djenoune L,Altinok S,Rai DK,Viviano S,Prendergast A,Zerillo C,Ozcan K,Baran B,Sencar L,Goc N,Yarman Y,Ercan-Sencicek AG,Bilguvar K,Lifton RP,Moliterno J,Louvi A,Yuan S,Deniz E,Brueckner M,Gunel M, Proc Natl Acad Sci U S A. April 18, 2023; 120(16):1091-6490.

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome., Blue EE,White JJ,Dush MK,Gordon WW,Wyatt BH,White P,Marvin CT,Helle E,Ojala T,Priest JR,Jenkins MM,Almli LM,Reefhuis J,Pangilinan F,Brody LC,McBride KL,Garg V,Shaw GM,Romitti PA,Nembhard WN,Browne ML,Werler MM,Kay DM,Mital S,Chong JX,Nascone-Yoder NM,Bamshad MJ, HGG Adv. October 12, 2023; 4(4):2666-2477.

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Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome., Delinière A,Jaupart L,Janin A,Millat G,Boulin T,Andrini O,Chevalier P, Gene. March 1, 2024; 897:1879-0038.

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