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Mutations in PAX2 associate with adult-onset FSGS.
Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR. Barua M, et al. J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27. J Am Soc Nephrol. 2014. PMID: 24676634 Free PMC article.
Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.
Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP. Gbadegesin RA, et al. Among authors: barua m. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27. J Am Soc Nephrol. 2014. PMID: 24676636 Free PMC article.
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.
Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. Lane BM, et al. Among authors: barua m. J Am Soc Nephrol. 2021 Jul;32(7):1682-1695. doi: 10.1681/ASN.2020081234. Epub 2021 Apr 16. J Am Soc Nephrol. 2021. PMID: 33863784 Free PMC article.
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. Ashraf S, et al. Among authors: barua m. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270420 Free PMC article.
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T, Udwan K, John R, Rana A, Haghighi A, Xu L, Hack S, Reich HN, Hladunewich MA, Cattran DC, Paterson AD, Pei Y, Barua M. Yao T, et al. Among authors: barua m. Clin J Am Soc Nephrol. 2019 Feb 7;14(2):213-223. doi: 10.2215/CJN.08750718. Epub 2019 Jan 15. Clin J Am Soc Nephrol. 2019. PMID: 30647093 Free PMC article.
LAMA2 and LOXL4 are candidate FSGS genes.
Vijayan P, Hack S, Yao T, Qureshi MA, Paterson AD, John R, Davenport B, Lennon R, Pei Y, Barua M. Vijayan P, et al. Among authors: barua m. BMC Nephrol. 2021 Sep 26;22(1):320. doi: 10.1186/s12882-021-02524-6. BMC Nephrol. 2021. PMID: 34565340 Free PMC article.
131 results