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Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.
Varner JD, Chryst-Stangl M, Esezobor CI, Solarin A, Wu G, Lane B, Hall G, Abeyagunawardena A, Matory A, Hunley TE, Lin JJ, Howell D, Gbadegesin R. Varner JD, et al. Front Pediatr. 2018 Oct 22;6:307. doi: 10.3389/fped.2018.00307. eCollection 2018. Front Pediatr. 2018. PMID: 30406062 Free PMC article.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Baek J, Kang HG, Ha IS, Han KH, Yang EM; Korean Consortium of Hereditary Renal Diseases in Children; Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A; Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group); Dossier C, Deschênes G; NEPHROVIR; Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Jia X, et al. Kidney Int. 2020 Nov;98(5):1308-1322. doi: 10.1016/j.kint.2020.05.029. Epub 2020 Jun 14. Kidney Int. 2020. PMID: 32554042 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. 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.
Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.
Cason RK, Williams A, Chryst-Stangl M, Wu G, Huggins K, Brathwaite KE, Lane BM, Greenbaum LA, D'Agati VD, Gbadegesin RA. Cason RK, et al. Among authors: lane bm. Front Pediatr. 2022 Jul 7;10:915174. doi: 10.3389/fped.2022.915174. eCollection 2022. Front Pediatr. 2022. PMID: 35874595 Free PMC article.
23 results