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Page 1
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Ashraf S, et al. Among authors: soliman na. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. Nat Commun. 2018. PMID: 29773874 Free PMC article.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F. Gee HY, et al. Among authors: soliman na. J Clin Invest. 2013 Aug;123(8):3243-53. doi: 10.1172/JCI69134. Epub 2013 Jul 8. J Clin Invest. 2013. PMID: 23867502 Free PMC article.
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group. Lovric S, et al. Among authors: soliman na. Clin J Am Soc Nephrol. 2014 Jun 6;9(6):1109-16. doi: 10.2215/CJN.09010813. Epub 2014 Apr 17. Clin J Am Soc Nephrol. 2014. PMID: 24742477 Free PMC article.
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. Among authors: soliman na. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hwang DY, et al. Among authors: soliman na. Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31. Hum Genet. 2015. PMID: 26026792 Free PMC article. Clinical Trial.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Braun DA, et al. Among authors: soliman na. Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317. Kidney Int. 2016. PMID: 26489029 Free PMC article.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F. Schueler M, et al. Among authors: soliman na. J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16. J Med Genet. 2016. PMID: 26673778 Free PMC article.
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F. Gee HY, et al. Among authors: soliman na. Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822. Nat Commun. 2016. PMID: 26905694 Free PMC article.
187 results