NATIONAL STUDIES OF KIDNEY DISEASE IN CHILDHOOD AND ADOLESCENCE

Research output

Research output per year 2011 2013 2015 2017 2023

• 16 Article (Academic Journal)

Research output per year

Research output per year

Search results

• 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

  • Genetics 100%
  • Small Molecule 100%
  • Podocin 100%
  • Keratin 8 100%
  • Cell Membrane 25%
  3 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

  Open Access

  File

  • Steroids 60%
  • Recurrence 11%
  • Registries 7%
  • Genotype 6%
  234 Citations (Scopus)

  745 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

  Open Access

  File

  • Podocyte 100%
  • Nephrotic Syndrome 100%
  • Congenital Nephrotic Syndrome 100%
  • Frameshift Mutation 50%
  • Glomerular Filtration Barrier 50%
  64 Citations (Scopus)

  399 Downloads (Pure)

• Recent advances in understanding and treating nephrotic syndrome

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

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

  Open Access

  File

  • Nephrotic Syndrome 100%
  • Podocyte 100%
  • Genetics 50%
  • Target Cell 50%
  • Immunity 50%
  33 Citations (Scopus)

  266 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.

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

  Open Access

  File

  • Allele 100%
  • Transgenics 100%
  • Podocyte 100%
  • In Vivo 100%
  • Gene Expression 100%
  283 Citations (Scopus)

  456 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.

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

  Open Access

  File

  • Vasculotropin 100%
  • Vascular Endothelial Growth Factor 100%
  • Complement Factor H 40%
  • Factor H 40%
  • Age Related Macular Degeneration 30%
  134 Citations (Scopus)

  380 Downloads (Pure)
• 2016

  Cell biology and genetics of minimal change disease

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

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

  Open Access

  File

  • Cytotechnology 100%
  • Minimal Change Disease 100%
  • Genetics 100%
  • Podocyte 100%
  • T Cell 33%
  25 Citations (Scopus)

  276 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.

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

  Open Access

  File

  • Nephropathy 100%
  • Podocyte 100%
  • RAC1 100%
  • CDC42 100%
  • Congenital Nephrotic Syndrome 75%
  100 Citations (Scopus)

  236 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

  • Nephropathy 100%
  • Podocyte 100%
  • COL4A5 100%
  • Diseases 66%
  • End Stage Renal Disease 66%
  41 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

  • Zebra Fish 100%
  • Podocyte 75%
  • Morphogenesis 25%
  • Epithelial Polarity 25%
  • Hyperlipidemia 25%
  94 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

  • Podocyte 100%
  • Genetics 20%
  • Mesangial Cell 20%
  • Integrin 20%
  • Shear Stress 20%
  33 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

  • NPHS2 100%
  • Missense 50%
  • Indel 25%
  • Genetics 25%
  • Genotyping 25%
  76 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
  69 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

  • Steroids 30%
  288 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

  • Next Generation Sequencing 100%
  • Congenital Nephrotic Syndrome 100%
  • Disease 80%
  • Genetics 50%
  • Gene Mutation 50%
  162 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

  • Genetics 100%
  • Nephrotic Syndrome 100%
  • Clinical Practice 100%
  • Syndrome 100%
  • Podocyte 66%
  24 Citations (Scopus)