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Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG.

Hayashi K., Shimizu M., Ino H., Okeie K., Yamaguchi M., Yasuda T., Fujino N., Fujii H., Fujita S., Mabuchi H.

Jpn Heart J 41:399-404(2000) GAD 129239 · Mapped (14)
Associated with CARDIOVASCULAR: cardiovascular; GAD 129239

Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.

Pietila E., Fodstad H., Niskasaari E., Laitinen P P.J., Swan H., Savolainen M., Kesaniemi Y.A., Kontula K., Huikuri H.V.

J. Am. Coll. Cardiol. 40:511-514(2002) GAD 129238 GAD 129240 GeneRIF 3757 · Mapped (14)
Associated with CARDIOVASCULAR: QT interval; Cohort 226/187 random middle-aged population (226 men/187 women) GAD 129240 Associated with CARDIOVASCULAR: unknown; GAD 129238 Observational study of gene-disease association. (HuGE Navigator); The common K897T polymorphism of the HERG channel is associated with the maximal duration and transmural dispersion of ventricular repolarization in middle-aged females. GeneRIF 3757

Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

Priori S.G., Napolitano C., Schwartz P.J., Grillo M., Bloise R., Ronchetti E., Moncalvo C., Tulipani C., Veia A., Bottelli G. et al.

JAMA 292:1341-1344(2004) GAD 129249 GeneRIF 3757 · Mapped (31)
Associated with CARDIOVASCULAR: EKG, abnormal; Cohort 335 consecutive LQTS-genotyped patients Italy GAD 129249 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 3757

The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.

Akyol M., Jalilzadeh S., Sinner M.F., Perz S., Beckmann B.M., Gieger C., Illig T., Wichmann H.E., Meitinger T., Kaab S. et al.

Eur. Heart J. 28:305-309(2007) GAD 150439 GeneRIF 3757 · Mapped (21)
Associated with CARDIOVASCULAR: EKG, abnormal; GAD 150439 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3757

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

Schwartz P.J., Priori S.G., Spazzolini C., Moss A.J., Vincent G.M., Napolitano C., Denjoy I., Guicheney P., Breithardt G., Keating M.T. et al.

Circulation 103:89-95(2001) GeneRIF 3757 · Mapped (31)
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) GeneRIF 3757

Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.

Itoh T., Kikuchi K., Odagawa Y., Takata S., Yano K., Okada S., Haneda N., Ogawa S., Nakano O., Kawahara Y. et al.

J. Hum. Genet. 46:38-40(2001) GeneRIF 3757 · Mapped (40)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 3757

The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.

Ficker E., Obejero-Paz C.A., Zhao S., Brown A.M.

J. Biol. Chem. 277:4989-4998(2002) GeneRIF 3757 · Mapped (14)
the trafficking-deficient pore mutation HERG G601S was rescued by a series of HERG channel blockers that increased cell surface expression. Rescue by these pharmacological chaperones varied directly with their blocking potency. GeneRIF 3757

Long QT syndrome in children: the value of rate corrected QT interval and DNA analysis as screening tests in the general population.

Allan W.C., Timothy K., Vincent G.M., Palomaki G.E., Neveux L.M., Haddow J.E.

J Med Screen 8:173-177(2001) GeneRIF 3757 · Mapped (31)
Observational study of gene-disease association genetic testing and healthcare-related. (HuGE Navigator) GeneRIF 3757

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

Moss A.J., Zareba W., Kaufman E.S., Gartman E., Peterson D.R., Benhorin J., Towbin J.A., Keating M.T., Priori S.G., Schwartz P.J. et al.

Circulation 105:794-799(2002) GeneRIF 3757 · Mapped (14)
Patients with mutations in the pore region of the HERG gene are at markedly increased risk for arrhythmia-related cardiac events compared with patients with nonpore mutations GeneRIF 3757

Mapping the binding site of a human ether-a-go-go-related gene-specific peptide toxin (ErgTx) to the channel's outer vestibule.

Pardo-Lopez L., Zhang M., Liu J., Jiang M., Possani L.D., Tseng G.N.

J. Biol. Chem. 277:16403-16411(2002) GeneRIF 3757 · Mapped (14)
Mapping the binding site of a human ether-a-go-go-related gene-specific peptide toxin (ErgTx) to the channel's outer vestibule GeneRIF 3757

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 P.C., Hohnloser S.H., Shimizu W., Schwartz P.J., Stanton M. et al.

Circulation 105:1943-1948(2002) GeneRIF 3757 · UniProtKB (2) · Mapped (29)
Observational study of gene-disease association gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) GeneRIF 3757

Defective human Ether-a-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.

Kupershmidt S., Yang T., Chanthaphaychith S., Wang Z., Towbin J.A., Roden D.M.

J. Biol. Chem. 277:27442-27448(2002) GeneRIF 3757 · Mapped (14)
a key function of the C-terminal 104 amino acids is to mask the RGR ER retention signal which becomes exposed when mutations truncate the HERG C terminus. GeneRIF 3757

New binding site on common molecular scaffold provides HERG channel specificity of scorpion toxin BeKm-1.

Korolkova Y.V., Bocharov E.V., Angelo K., Maslennikov I.V., Grinenko O.V., Lipkin A.V., Nosyreva E.D., Pluzhnikov K.A., Olesen S.-P., Arseniev A.S. et al.

J. Biol. Chem. 277:43104-43109(2002) GeneRIF 3757 · UniProtKB (1) · Mapped (14)
identification of the residues that are important for the binding specificity to the scorpion toxin BeKm-1 GeneRIF 3757

Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.

Chen J., Seebohm G., Sanguinetti M.C.

Proc. Natl. Acad. Sci. U.S.A. 99:12461-12466(2002) GeneRIF 3757 · Mapped (16)
positioning of S6 aromatic residues relative to the central cavity of the channel not inactivation per se determines drug block of HERG or eag channels GeneRIF 3757

Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-a-go-go-Related Gene.

Roti E.C., Myers C.D., Ayers R.A., Boatman D.E., Delfosse S.A., Chan E.K., Ackerman M.J., January C.T., Robertson G.A.

J. Biol. Chem. 277:47779-47785(2002) GeneRIF 3757 · Mapped (22)
the cytoplasmic C terminus of HERG participates in the tethering or possibly targeting of HERG-containing vesicles within the Golgi via its interaction with GM130 GeneRIF 3757

A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

Paulussen A., Raes A., Matthijs G., Snyders D.J., Cohen N., Aerssens J.

J. Biol. Chem. 277:48610-48616(2002) GeneRIF 3757 · UniProtKB (1) · Mapped (13)
determination of relation of a PAS domain mutation in HERG to a trafficking deficiency at body temperature apart from effects on channel deactivation GeneRIF 3757

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R., Marcelis C., Velter C., Doevendans P., Geraedts J., Smeets H.

Hum. Mutat. 20:382-391(2002) GeneRIF 3757 · Mapped (20)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3757

Cloning and functional characterization of the smooth muscle ether-a-go-go-related gene K+ channel. Potential role of a conserved amino acid substitution in the S4 region.

Shoeb F., Malykhina A.P., Akbarali H.I.

J. Biol. Chem. 278:2503-2514(2003) GeneRIF 3757 · Mapped (14)
Description of a HERG isoform found in human and rabbit colon that has a functional role in smooth muscle GeneRIF 3757

Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells.

Crociani O., Guasti L., Balzi M., Becchetti A., Wanke E., Olivotto M., Wymore R.S., Arcangeli A.

J. Biol. Chem. 278:2947-2955(2003) GeneRIF 3757 · UniProtKB (1) · Mapped (13)
cell cycle dependent expression of isoforms in tumor cells GeneRIF 3757

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Liu W., Yang J., Hu D., Kang C., Li C., Zhang S., Li P., Chen Z., Qin X., Ying K. et al.

Hum. Mutat. 20:475-476(2002) GeneRIF 3757 · Mapped (20)
Three KCNH2 mutations L413P E444D and L559H were identified in long QT syndrome in China. GeneRIF 3757

Normal function of HERG K+ channels expressed in HEK293 cells requires basal protein kinase B activity.

Zhang Y., Wang H., Wang J., Han H., Nattel S., Wang Z.

FEBS Lett. 534:125-132(2003) GeneRIF 3757 · Mapped (21)
We conclude that normal HERG function in HEK293 cells requires basal activity of PKB. Our data represent the first evidence that PKB phosphorylation regulates K(+) channels GeneRIF 3757

Relevance of the proximal domain in the amino-terminus of HERG channels for regulation by a phospholipase C-coupled hormone receptor.

Gomez-Varela D., Barros F., Viloria C.G., Giraldez T., Manso D.G., Dupuy S.G., Miranda P., de la Pena P.

FEBS Lett. 535:125-130(2003) GeneRIF 3757 · Mapped (14)
Different proximal amino-terminal domain sequences contribute to set HERG gating characteristics and its regulation by TRH GeneRIF 3757

A HERG current sustains a cardiac-type action potential in neuroblastoma S cells.

D'Amico M., Biagiotti T., Fontana L., Restano-Cassulini R., Lasagna N., Arcangeli A., Wanke E., Olivotto M.

Biochem. Biophys. Res. Commun. 302:101-108(2003) GeneRIF 3757 · Mapped (14)
sustains a cardiac-type action potential in neuroblastoma S cells GeneRIF 3757

Modulation of human ether-a-go-go-related K+ (HERG) channel inactivation by Cs+ and K+.

Zhang S., Kehl S.J., Fedida D.

J. Physiol. (Lond.) 548:691-702(2003) GeneRIF 3757 · Mapped (14)
The strong effects of Cs+ on inactivation but not on activation highlight the importance of ion and channel interactions during the onset of inactivation in the HERG channel. GeneRIF 3757

HERG K(+) currents in human prolactin-secreting adenoma cells.

Bauer C.K., Wulfsen I., Schaefer R., Glassmeier G., Wimmers S., Flitsch J., Luedecke D.K., Schwarz J.R.

Pflugers Arch. 445:589-600(2003) GeneRIF 3757 · UniProtKB (2) · Mapped (16)
Transcripts for HERG1 were present in all adenomas and although transcripts for HERG2 and HERG3 were also detected their expression level was more variable. GeneRIF 3757

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