Works matching AU Ashraf, Shazia

Results: 48
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    Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

    Published in:
    Nephrology Dialysis Transplantation, 2019, v. 34, n. 3, p. 474, doi. 10.1093/ndt/gfy050
    By:
    • Schapiro, David;
    • Daga, Ankana;
    • Lawson, Jennifer A;
    • Majmundar, Amar J;
    • Lovric, Svjetlana;
    • Tan, Weizhen;
    • Warejko, Jillian K;
    • Fessi, Inés;
    • Rao, Jia;
    • Airik, Merlin;
    • Gee, Heon Yung;
    • Schneider, Ronen;
    • Widmeier, Eugen;
    • Hermle, Tobias;
    • Ashraf, Shazia;
    • Jobst-Schwan, Tilman;
    • Ven, Amelie T van der;
    • Nakayama, Makiko;
    • Shril, Shirlee;
    • Braun, Daniela A
    Publication type:
    Article
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    Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

    Published in:
    Nephrology Dialysis Transplantation, 2019, v. 34, n. 3, p. 485, doi. 10.1093/ndt/gfy028
    By:
    • Braun, Daniela A;
    • Warejko, Jillian K;
    • Ashraf, Shazia;
    • Tan, Weizhen;
    • Daga, Ankana;
    • Schneider, Ronen;
    • Hermle, Tobias;
    • Jobst-Schwan, Tilman;
    • Widmeier, Eugen;
    • Majmundar, Amar J;
    • Nakayama, Makiko;
    • Schapiro, David;
    • Rao, Jia;
    • Schmidt, Johanna Magdalena;
    • Hoogstraten, Charlotte A;
    • Hugo, Hannah;
    • Bakkaloglu, Sevcan A;
    • Kari, Jameela A;
    • Desoky, Sherif El;
    • Daouk, Ghaleb
    Publication type:
    Article
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    Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

    Published in:
    Nephrology Dialysis Transplantation, 2010, v. 25, n. 9, p. 2970, doi. 10.1093/ndt/gfq088
    By:
    • Schoeb, Dominik S.;
    • Chernin, Gil;
    • Heeringa, Saskia F.;
    • Matejas, Verena;
    • Held, Susanne;
    • Vega-Warner, Virginia;
    • Bockenhauer, Detlef;
    • Vlangos, Christopher N.;
    • Moorani, Khemchand N.;
    • Neuhaus, Thomas J.;
    • Kari, Jameela A.;
    • MacDonald, James;
    • Saisawat, Pawaree;
    • Ashraf, Shazia;
    • Ovunc, Bugsu;
    • Zenker, Martin;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
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    Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

    Published in:
    Nature Genetics, 2006, v. 38, n. 12, p. 1397, doi. 10.1038/ng1918
    By:
    • Hinkes, Bernward;
    • Wiggins, Roger C.;
    • Gbadegesin, Rasheed;
    • Vlangos, Christopher N.;
    • Seelow, Dominik;
    • Nürnberg, Gudrun;
    • Garg, Puneet;
    • Verma, Rakesh;
    • Chaib, Hassan;
    • Hoskins, Bethan E.;
    • Ashraf, Shazia;
    • Becker, Christian;
    • Hennies, Hans Christian;
    • Goyal, Meera;
    • Wharram, Bryan L.;
    • Schachter, Asher D.;
    • Mudumana, Sudha;
    • Drummond, Iain;
    • Kerjaschki, Dontscho;
    • Waldherr, Rüdiger
    Publication type:
    Article
    10

    A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000353
    By:
    • Hildebrandt, Friedhelm;
    • Heeringa, Saskia F.;
    • Rüschendorf, Franz;
    • Attanasio, Massimo;
    • Nürnberg, Gudrun;
    • Becker, Christian;
    • Seelow, Dominik;
    • Huebner, Norbert;
    • Chernin, Gil;
    • Vlangos, Christopher N.;
    • Weibin Zhou;
    • O'Toole, John F.;
    • Hoskins, Bethan E.;
    • Wolf, Matthias T. F.;
    • Hinkes, Bernward G.;
    • Chaib, Hassan;
    • Ashraf, Shazia;
    • Schoeb, Dominik S.;
    • Ovunc, Bugsu;
    • Allen, Susan J.
    Publication type:
    Article
    11

    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

    Published in:
    2018
    By:
    • Braun, Daniela A.;
    • Lovric, Svjetlana;
    • Schapiro, David;
    • Schneider, Ronen;
    • Marquez, Jonathan;
    • Asif, Maria;
    • Hussain, Muhammad Sajid;
    • Daga, Ankana;
    • Widmeier, Eugen;
    • Rao, Jia;
    • Ashraf, Shazia;
    • Tan, Weizhen;
    • Lusk, C. Patrick;
    • Kolb, Amy;
    • Jobst-Schwan, Tilman;
    • Schmidt, Johanna Magdalena;
    • Hoogstraten, Charlotte A.;
    • Eddy, Kaitlyn;
    • Kitzler, Thomas M.;
    • Shril, Shirlee
    Publication type:
    journal article
    12

    Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.

    Published in:
    2017
    By:
    • Weizhen Tan;
    • van der Ven, Amelie T.;
    • Braun, Daniela A.;
    • Won-Il Choi;
    • Jobst-Schwan, Tilman;
    • Schneider, Ronen;
    • Schmidt, Johanna Magdalena;
    • Widmeier, Eugen;
    • Warejko, Jillian K.;
    • Hermle, Tobias;
    • Schapiro, David;
    • Lovric, Svjetlana;
    • Shril, Shirlee;
    • Daga, Ankana;
    • Hildebrandt, Friedhelm;
    • Rao, Jia;
    • Ashraf, Shazia;
    • Heon Yung Gee;
    • Bald, Martin;
    • Helmchen, Udo
    Publication type:
    journal article
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    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 6, p. 2375, doi. 10.1172/JCI79504
    By:
    • Heon Yung Gee;
    • Fujian Zhang;
    • Ashraf, Shazia;
    • Kohl, Stefan;
    • Sadowski, Carolin E.;
    • Vega-Warner, Virginia;
    • Weibin Zhou;
    • Lovric, Svjetlana;
    • Fang, Humphrey;
    • Nettleton, Margaret;
    • Jun-yi Zhu;
    • Hoefele, Julia;
    • Weber, Lutz T.;
    • Podracka, Ludmila;
    • Boor, Andrej;
    • Fehrenbach, Henry;
    • Innis, Jeffrey W.;
    • Washburn, Joseph;
    • Levy, Shawn;
    • Lifton, Richard P.
    Publication type:
    Article
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    ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ<sub>10</sub> biosynthesis disruption.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 12, p. 5179, doi. 10.1172/JCI69000
    By:
    • Ashraf, Shazia;
    • Heon Yung Gee;
    • Woerner, Stephanie;
    • Letian X. Xie;
    • Vega-Warner, Virginia;
    • Lovric, Svjetlana;
    • Humphrey Fang;
    • Xuewen Song;
    • Cattran, Daniel C.;
    • Avila-Casado, Carmen;
    • Paterson, Andrew D.;
    • Nitschké, Patrick;
    • Bole-Feysot, Christine;
    • Cochat, Pierre;
    • Esteve-Rudd, Julian;
    • Haberberger, Birgit;
    • Allen, Susan J.;
    • Weibin Zhou;
    • Airik, Rannar;
    • Otto, Edgar A.
    Publication type:
    Article
    17

    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 8, p. 3243, doi. 10.1172/JCI69134
    By:
    • Gee, Heon Yung;
    • Saisawat, Pawaree;
    • Ashraf, Shazia;
    • Hurd, Toby W.;
    • Vega-Warner, Virginia;
    • Fang, Humphrey;
    • Beck, Bodo B.;
    • Gribouval, Olivier;
    • Zhou, Weibin;
    • Diaz, Katrina A.;
    • Natarajan, Sivakumar;
    • Wiggins, Roger C.;
    • Lovric, Svjetlana;
    • Chernin, Gil;
    • Schoeb, Dominik S.;
    • Ovunc, Bugsu;
    • Frishberg, Yaacov;
    • Soliman, Neveen A.;
    • Fathy, Hanan M.;
    • Goebel, Heike
    Publication type:
    Article
    18

    COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

    Published in:
    2011
    By:
    • Heeringa, Saskia F.;
    • Chernin, Gil;
    • Chaki, Moumita;
    • Weibin Zhou;
    • Sloan, Alexis J.;
    • Ziming Ji;
    • Xie, Letian X.;
    • Salviati, Leonardo;
    • Hurd, Toby W.;
    • Vega-Warner, Virginia;
    • Killen, Paul D.;
    • Raphael, Yehoash;
    • Ashraf, Shazia;
    • Ovunc, Bugsu;
    • Schoeb, Dominik S.;
    • McLaughlin, Heather M.;
    • Airik, Rannar;
    • Vlangos, Christopher N.;
    • Gbadegesin, Rasheed;
    • Hinkes, Bernward
    Publication type:
    journal article
    19

    Valorization of the phytochemical profile, nutritional composition, and therapeutic potentials of garlic peel: a concurrent review.

    Published in:
    International Journal of Food Properties, 2023, v. 26, n. 1, p. 2642, doi. 10.1080/10942912.2023.2251713
    By:
    • Azmat, Faiza;
    • Imran, Ali;
    • Islam, Fakhar;
    • Afzaal, Muhammad;
    • Zahoor, Tahir;
    • Akram, Rabia;
    • Aggarwal, Saurabh;
    • Rehman, Maha;
    • Naaz, Saima;
    • Ashraf, Shazia;
    • Hussain, Ghulam;
    • A. R. Suleria, Hafiz;
    • Ali, Qasim;
    • Bibi, Momina;
    • Batool, Fariha;
    • Gul, Foraya;
    • Amjad, Nosheen;
    • Asif Shah, Mohid
    Publication type:
    Article
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    FAT1 mutations cause a glomerulotubular nephropathy.

    Published in:
    Nature Communications, 2016, v. 7, n. 2, p. 10822, doi. 10.1038/ncomms10822
    By:
    • Gee, Heon Yung;
    • Sadowski, Carolin E.;
    • Aggarwal, Pardeep K.;
    • Porath, Jonathan D.;
    • Yakulov, Toma A.;
    • Schueler, Markus;
    • Lovric, Svjetlana;
    • Ashraf, Shazia;
    • Braun, Daniela A.;
    • Halbritter, Jan;
    • Fang, Humphrey;
    • Airik, Rannar;
    • Vega-Warner, Virginia;
    • Cho, Kyeong Jee;
    • Chan, Timothy A.;
    • Morris, Luc G. T.;
    • ffrench-Constant, Charles;
    • Allen, Nicholas;
    • McNeill, Helen;
    • Büscher, Rainer
    Publication type:
    Article
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    Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.

    Published in:
    Pediatric Nephrology, 2018, v. 33, n. 2, p. 305, doi. 10.1007/s00467-017-3801-6
    By:
    • Tan, Weizhen;
    • Lovric, Svjetlana;
    • Ashraf, Shazia;
    • Rao, Jia;
    • Schapiro, David;
    • Airik, Merlin;
    • Shril, Shirlee;
    • Gee, Heon Yung;
    • Baum, Michelle;
    • Daouk, Ghaleb;
    • Ferguson, Michael A.;
    • Rodig, Nancy;
    • Somers, Michael J. G.;
    • Stein, Deborah R.;
    • Vivante, Asaf;
    • Warejko, Jillian K.;
    • Widmeier, Eugen;
    • Hildebrandt, Friedhelm
    Publication type:
    Article
    34

    Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04193-w
    By:
    • Ashraf, Shazia;
    • Hiroki Kudo;
    • Rao, Jia;
    • Atsuo Kikuchi;
    • Widmeier, Eugen;
    • Lawson, Jennifer A.;
    • Weizhen Tan;
    • Tobias Hermle;
    • Warejko, Jillian K.;
    • Shril, Shirlee;
    • Airik, Merlin;
    • Jobst-Schwan, Tilman;
    • Lovric, Svjetlana;
    • Braun, Daniela A.;
    • Heon Yung Gee;
    • Schapiro, David;
    • Majmundar, Amar J.;
    • Sadowski, Carolin E.;
    • Pabst, Werner L.;
    • Daga, Ankana
    Publication type:
    Article
    35

    Mutations in WDR4 as a new cause of Galloway–Mowat syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2460, doi. 10.1002/ajmg.a.40489
    By:
    • Braun, Daniela A.;
    • Shril, Shirlee;
    • Sinha, Aditi;
    • Schneider, Ronen;
    • Tan, Weizhen;
    • Ashraf, Shazia;
    • Hermle, Tobias;
    • Jobst‐Schwan, Tilman;
    • Widmeier, Eugen;
    • Majmundar, Amar J.;
    • Daga, Ankana;
    • Warejko, Jillian K.;
    • Nakayama, Makiko;
    • Schapiro, David;
    • Chen, Jing;
    • Airik, Merlin;
    • Rao, Jia;
    • Schmidt, Johanna Magdalena;
    • Hoogstraten, Charlotte A.;
    • Hugo, Hannah
    Publication type:
    Article
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    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.

    Published in:
    Kidney International, 2014, v. 85, n. 4, p. 880, doi. 10.1038/ki.2013.450
    By:
    • Gee, Heon Yung;
    • Otto, Edgar A;
    • Hurd, Toby W;
    • Ashraf, Shazia;
    • Chaki, Moumita;
    • Cluckey, Andrew;
    • Vega-Warner, Virginia;
    • Saisawat, Pawaree;
    • Diaz, Katrina A;
    • Fang, Humphrey;
    • Kohl, Stefan;
    • Allen, Susan J;
    • Airik, Rannar;
    • Zhou, Weibin;
    • Ramaswami, Gokul;
    • Janssen, Sabine;
    • Fu, Clementine;
    • Innis, Jamie L;
    • Weber, Stefanie;
    • Vester, Udo
    Publication type:
    Article