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Publications related to Q01118 - SCN7A_HUMAN

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  1. 1
    "Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family."
    George A.L. Jr., Knittle T.J., Tamkun M.M.
    Proc. Natl. Acad. Sci. U.S.A. 89:4893-4897(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS ASN-41 AND ILE-958.
    Category: Expression, Sequences.
    Tissue: Fetal skeletal muscle and Heart.
    Source: UniProtKB/Swiss-Prot (reviewed).
  2. 2
    "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 36146 other entries.

  3. 3
    "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-843, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Category: PTM / Processing, Sequences.
    Tissue: Liver.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 11201 other entries.

  4. 4
    "[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]."
    Zhang K.X., Zhu D.L., He X., Zhang Y., Zhang H., Zhao R., Lin J., Wang G.L., Zhang K.Y., Huang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:463-467(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported, Associated with CARDIOVASCULAR: hypertension.Imported.
    Source: GeneRIF:6332, GAD:133962.

    This publication is mapped to 1 other entry.

  5. 5
    "Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks."
    Meyers K.J., Mosley T.H., Fox E., Boerwinkle E., Arnett D.K., Devereux R.B., Kardia S.L.
    Hypertension 49:992-999(2007) [PubMed] [Europe PMC] [Abstract]
    Annotation: Observational study of gene-disease association. (HuGE Navigator)Imported.
    Source: GeneRIF:6332.

    This publication is mapped to 19 other entries.

  6. 6
    "Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis."
    Landers J.E., Melki J., Meininger V., Glass J.D., van den Berg L.H., van Es M.A., Sapp P.C., van Vught P.W., McKenna-Yasek D.M., Blauw H.M., Cho T.J., Polak M., Shi L., Wills A.M., Broom W.J., Ticozzi N., Silani V., Ozoguz A.
    , Rodriguez-Leyva I., Veldink J.H., Ivinson A.J., Saris C.G., Hosler B.A., Barnes-Nessa A., Couture N., Wokke J.H., Kwiatkowski T.J. Jr., Ophoff R.A., Cronin S., Hardiman O., Diekstra F.P., Leigh P.N., Shaw C.E., Simpson C.L., Hansen V.K., Powell J.F., Corcia P., Salachas F., Heath S., Galan P., Georges F., Horvitz H.R., Lathrop M., Purcell S., Al-Chalabi A., Brown R.H. Jr.
    Proc. Natl. Acad. Sci. U.S.A. 106:9004-9009(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech.
    Annotation: Associated with NEUROLOGICAL: Amyotrophic lateral sclerosis.Imported.
    Source: GAD:599565.

    This publication is mapped to 83 other entries.

  7. 7
    "The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese."
    Zhang B., Li M., Wang L., Li C., Lou Y., Liu J., Liu Y., Wang Z., Wen S.
    Ann. Hum. Genet. 79:28-36(2015) [PubMed] [Europe PMC] [Abstract]
    Annotation: SNP rs7565062 of SCN7A was significantly associated with essential hypertension in a Northern Han Chinese populationImported.
    Source: GeneRIF:6332.

    This publication is mapped to 1 other entry.

  8. 8
    "Sodium channel Nax is a regulator in epithelial sodium homeostasis."
    Xu W., Hong S.J., Zhong A., Xie P., Jia S., Xie Z., Zeitchek M., Niknam-Bienia S., Zhao J., Porterfield D.M., Surmeier D.J., Leung K.P., Galiano R.D., Mustoe T.A.
    Sci Transl Med 7:312ra177-312ra177(2015) [PubMed] [Europe PMC] [Abstract]
    Annotation: The authors demonstrated that the sodium channel Nax functions as a sodium sensor. With increased extracellular sodium Nax up-regulates prostasin which results in activation of the sodium channel ENaC.Imported.
    Source: GeneRIF:6332.

    This publication is mapped to 1 other entry.

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