nephrosis

Literature (4)

Literature for DOID 2527: nephrosis

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

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA,Lovric S,Schapiro D,Schneider R,Marquez J,Asif M,Hussain MS,Daga A,Widmeier E,Rao J,Ashraf S,Tan W,Lusk CP,Kolb A,Jobst-Schwan T,Schmidt JM,Hoogstraten CA,Eddy K,Kitzler TM,Shril S,Moawia A,Schrage K,Khayyat AIA,Lawson JA,Gee HY,Warejko JK,Hermle T,Majmundar AJ,Hugo H,Budde B,Motameny S,Altmüller J,Noegel AA,Fathy HM,Gale DP,Waseem SS,Khan A,Kerecuk L,Hashmi S,Mohebbi N,Ettenger R,Serdaroğlu E,Alhasan KA,Hashem M,Goncalves S,Ariceta G,Ubetagoyena M,Antonin W,Baig SM,Alkuraya FS,Shen Q,Xu H,Antignac C,Lifton RP,Mane S,Nürnberg P,Khokha MK,Hildebrandt F, J Clin Invest. October 1, 2018; 128(10):1558-8238.
Urokinase-type plasminogen activator (uPA) is not essential for epithelial sodium channel (ENaC)-mediated sodium retention in experimental nephrotic syndrome., Bohnert BN,Daiminger S,Wörn M,Sure F,Staudner T,Ilyaskin AV,Batbouta F,Janessa A,Schneider JC,Essigke D,Kanse S,Haerteis S,Korbmacher C,Artunc F, Acta Physiol (Oxf). December 1, 2019; 227(4):1748-1716.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. December 3, 2020; 107(6):1537-6605.
Proteolytic activation of the epithelial sodium channel (ENaC) by factor VII activating protease (FSAP) and its relevance for sodium retention in nephrotic mice., Artunc F,Bohnert BN,Schneider JC,Staudner T,Sure F,Ilyaskin AV,Wörn M,Essigke D,Janessa A,Nielsen NV,Birkenfeld AL,Etscheid M,Haerteis S,Korbmacher C,Kanse SM, Pflugers Arch. February 1, 2022; 474(2):1432-2013.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome., Braun DA,Lovric S,Schapiro D,Schneider R,Marquez J,Asif M,Hussain MS,Daga A,Widmeier E,Rao J,Ashraf S,Tan W,Lusk CP,Kolb A,Jobst-Schwan T,Schmidt JM,Hoogstraten CA,Eddy K,Kitzler TM,Shril S,Moawia A,Schrage K,Khayyat AIA,Lawson JA,Gee HY,Warejko JK,Hermle T,Majmundar AJ,Hugo H,Budde B,Motameny S,Altmüller J,Noegel AA,Fathy HM,Gale DP,Waseem SS,Khan A,Kerecuk L,Hashmi S,Mohebbi N,Ettenger R,Serdaroğlu E,Alhasan KA,Hashem M,Goncalves S,Ariceta G,Ubetagoyena M,Antonin W,Baig SM,Alkuraya FS,Shen Q,Xu H,Antignac C,Lifton RP,Mane S,Nürnberg P,Khokha MK,Hildebrandt F, J Clin Invest. October 1, 2018; 128(10):1558-8238.

Urokinase-type plasminogen activator (uPA) is not essential for epithelial sodium channel (ENaC)-mediated sodium retention in experimental nephrotic syndrome., Bohnert BN,Daiminger S,Wörn M,Sure F,Staudner T,Ilyaskin AV,Batbouta F,Janessa A,Schneider JC,Essigke D,Kanse S,Haerteis S,Korbmacher C,Artunc F, Acta Physiol (Oxf). December 1, 2019; 227(4):1748-1716.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., Schneider R,Deutsch K,Hoeprich GJ,Marquez J,Hermle T,Braun DA,Seltzsam S,Kitzler TM,Mao Y,Buerger F,Majmundar AJ,Onuchic-Whitford AC,Kolvenbach CM,Schierbaum L,Schneider S,Halawi AA,Nakayama M,Mann N,Connaughton DM,Klämbt V,Wagner M,Riedhammer KM,Renders L,Katsura Y,Thumkeo D,Soliman NA,Mane S,Lifton RP,Shril S,Khokha MK,Hoefele J,Goode BL,Hildebrandt F, Am J Hum Genet. December 3, 2020; 107(6):1537-6605.

Proteolytic activation of the epithelial sodium channel (ENaC) by factor VII activating protease (FSAP) and its relevance for sodium retention in nephrotic mice., Artunc F,Bohnert BN,Schneider JC,Staudner T,Sure F,Ilyaskin AV,Wörn M,Essigke D,Janessa A,Nielsen NV,Birkenfeld AL,Etscheid M,Haerteis S,Korbmacher C,Kanse SM, Pflugers Arch. February 1, 2022; 474(2):1432-2013.