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NATIONAL STUDIES OF KIDNEY DISEASE IN CHILDHOOD AND ADOLESCENCE

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  • 2023

    A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome

    Kuzmuk, V., Pranke, I., Rollason, R., Butler, M., Ding, W. Y., Beesley, M., Waters, A. M., Coward, R. J., Sessions, R., Tuffin, J., Foster, R. R., Mollet, G., Antignac, C., Edelman, A., Welsh, G. I. & Saleem, M. A., 22 Nov 2023, (E-pub ahead of print) In: Kidney International.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    Open Access
    7 Citations (Scopus)

  • 2017

    Genomic and clinical profiling of a national Nephrotic Syndrome cohort advocates a precision medicine approach to disease management

    Bierzynska, A., McCarthy, H., Soderquest, K., Sen, E., Colby, E., Ding, W., Nabhan, M., Kerecuk, L., Welsh, G., Saleem, M., Hedge, S., Hughes, D., Marks, S., Feather, S., Jones, C., Webb, N. J. A., Ognjanovic, M., Christian, M., Gilbert, R. D. & Sinha, M. & 3 others, Lord, G. M., Simpson, M. A. & Koziell, A., 1 Apr 2017, In: Kidney International. 91, 4, p. 937–947 11 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

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    262 Citations (Scopus)
    913 Downloads (Pure)

  • MAGI2 Mutations Cause Congenital Nephrotic Syndrome

    Bierzynska, A., Soderquest, K., Dean, P., Colby, E., Rollason, R., Jones, C., Inward, C., McCarthy, H., Simpson, M. A., Lord, G. M., Williams, M., Welsh, G., Koziell, A. & Saleem, M., 1 May 2017, In: Journal of the American Society of Nephrology. 28, 5, p. 1614-1621 8 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

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    71 Citations (Scopus)
    462 Downloads (Pure)

  • Recent advances in understanding and treating nephrotic syndrome

    Bierzynska, A. & Saleem, M., 9 Feb 2017, In: F1000Research. 6, 8 p., 121.

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    44 Citations (Scopus)
    287 Downloads (Pure)

  • Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice

    Beckerman, P., Bi-Karchin, J., Park, A. S. D., Qiu, C., Dummer, P. D., Soomro, I., Boustany-Kari, C. M., Pullen, S. S., Miner, J. H., Hu, C.-A. A., Rohacs, T., Inoue, K., Ishibe, S., Saleem, M., Palmer, M. B., Cuervo, A. M., Kopp, J. B. & Susztak, K., Apr 2017, In: Nature Medicine. 23, 4, p. 429–438 10 p.

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    303 Citations (Scopus)
    560 Downloads (Pure)

  • VEGF regulates local inhibitory complement proteins in the eye and kidney

    Keir, L. S., Firth, R., Aponik, L., Feitelberg, D., Sakimoto, S., Aguilar, E., Welsh, G. I., Richards, A., Usui, Y., Satchell, S. C., Kuzmuk, V., Coward, R. J., Goult, J., Bull, K. R., Sharma, R., Bharti, K., Westenskow, P. D., Michael, I. P., Saleem, M. A. & Friedlander, M., 3 Jan 2017, In: Journal of Clinical Investigation. 127, 1, p. 199-214 16 p.

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    147 Citations (Scopus)
    413 Downloads (Pure)

  • 2016

    Cell biology and genetics of minimal change disease

    Saleem, M. A. & Kobayashi, Y., 30 Mar 2016, In: F1000Research. 5

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    27 Citations (Scopus)
    323 Downloads (Pure)

  • FAT1 mutations cause a glomerulotubular nephropathy

    Gee, H. Y., Sadowski, C. E., Aggarwal, P. K., Porath, J. D., Yakulov, T. A., Schueler, M., Lovric, S., Ashraf, S., Braun, D. A., Halbritter, J., Fang, H., Airik, R., Vega-Warner, V., Cho, K. J., Chan, T. A., Morris, L. G. T., ffrench-Constant, C., Allen, N., McNeill, H. & Büscher, R. & 22 others, Kyrieleis, H., Wallot, M., Gaspert, A., Kistler, T., Milford, D. V., Saleem, M. A., Keng, W. T., Alexander, S. I., Valentini, R. P., Licht, C., Teh, J. C., Bogdanovic, R., Koziell, A., Bierzynska, A., Soliman, N. A., Otto, E. A., Lifton, R. P., Holzman, L. B., Sibinga, N. E. S., Walz, G., Tufro, A. & Hildebrandt, F., 24 Feb 2016, In: Nature Communications. 7, 10822.

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    110 Citations (Scopus)
    270 Downloads (Pure)

  • 2015

    Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

    Lennon, R., Stuart, H. M., Bierzynska, A., Randles, M. J., Kerr, B., Hillman, K. A., Batra, G., Campbell, J., Storey, H., Flinter, F. A., Koziell, A., Welsh, G. I., Saleem, M. A., Webb, N. J. A. & Woolf, A. S., Sept 2015, In: Pediatric Nephrology. 30, 9, p. 1459-65 7 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    43 Citations (Scopus)

  • Defects of CRB2 cause steroid-resistant nephrotic syndrome

    Ebarasi, L., Ashraf, S., Bierzynska, A., Gee, H. Y., McCarthy, H. J., Lovric, S., Sadowski, C. E., Pabst, W., Vega-Warner, V., Fang, H., Koziell, A., Simpson, M. A., Dursun, I., Serdaroglu, E., Levy, S., Saleem, M. A., Hildebrandt, F. & Majumdar, A., 8 Jan 2015, In: American Journal of Human Genetics. 96, 1, p. 153-61 9 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    102 Citations (Scopus)

  • One hundred ways to kill a podocyte

    Saleem, M. A., Aug 2015, In: Nephrology Dialysis Transplantation. 30, 8, p. 1266-71 6 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    35 Citations (Scopus)

  • 2014

    NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum

    Bouchireb, K., Boyer, O., Gribouval, O., Nevo, F., Huynh-Cong, E., Morinière, V., Campait, R., Ars, E., Brackman, D., Dantal, J., Eckart, P., Gigante, M., Lipska, B. S., Liutkus, A., Megarbane, A., Mohsin, N., Ozaltin, F., Saleem, M. A., Schaefer, F. & Soulami, K. & 5 others, Torra, R., Garcelon, N., Mollet, G., Dahan, K. & Antignac, C., Feb 2014, In: Human Mutation. 35, 2, p. 178-86 9 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    89 Citations (Scopus)

  • 2013

    Active proteases in nephrotic plasma lead to a podocin-dependent phosphorylation of VASP in podocytes via protease activated receptor-1

    Harris, J., McCarthy, H., Ni, L., Wherlock, M. D., Kang, H., Wetzels, J., Welsh, G. I. & Saleem, M., Apr 2013, In: Journal of Pathology. 229, 5, p. 660-671

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    70 Citations (Scopus)

  • ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

    Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega-Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D. C., Avila-Casado, C., Paterson, A. D., Nitschké, P., Bole-Feysot, C., Cochat, P., Esteve-Rudd, J., Haberberger, B., Allen, S. J., Zhou, W., Airik, R. & Otto, E. A. & 25 others, Barua, M., Al-Hamed, M. H., Kari, J. A., Evans, J., Bierzynska, A., Saleem, M. A., Böckenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D. O., Gok, F., Washburn, J., Wiggins, R. C., Choi, M., Lifton, R. P., Levy, S., Han, Z., Salviati, L., Prokisch, H., Williams, D. S., Pollak, M., Clarke, C. F., Pei, Y., Antignac, C. & Hildebrandt, F., Dec 2013, In: Journal of Clinical Investigation. 123, 12, p. 5179-89 11 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    304 Citations (Scopus)

  • Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

    McCarthy, H. J., Bierzynska, A., Wherlock, M., Ognjanovic, M., Kerecuk, L., Hegde, S., Feather, S., Gilbert, R. D., Krischock, L., Jones, C., Sinha, M. D., Webb, N. J. A., Christian, M., Williams, M. M., Marks, S., Koziell, A., Welsh, G. I., Saleem, M. A. & on behalf of RADAR, the UK SRNS Study Group, 5 Apr 2013, In: Clinical Journal of the American Society of Nephrology. 8, 4, p. 637-648

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    166 Citations (Scopus)

  • 2011

    Genetics in clinical practice: nephrotic and proteinuric syndromes

    McCarthy, H. & Saleem, M., 2011, In: Nephron Experimental Nephrology. 118(1), p. e1 - e8 8 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    24 Citations (Scopus)