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• Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

  Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C. Papazachariou L, et al. PLoS One. 2014 Dec 16;9(12):e115015. doi: 10.1371/journal.pone.0115015. eCollection 2014. PLoS One. 2014. PMID: 25514610 Free PMC article.
• A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.

  Fan J, Fu R, Ren F, He J, Wang S, Gou M. Fan J, et al. Medicine (Baltimore). 2018 Sep;97(37):e12362. doi: 10.1097/MD.0000000000012362. Medicine (Baltimore). 2018. PMID: 30212996 Free PMC article.
• Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

  Watanabe A, Miranda de Menezes Neves PD, Nunes K, Lerario AM, Watanabe EH, Ferreira FM, Avancini Costa Malheiros DM, de Moraes Narcizo A, Guaragna MS, de Almeida Araujo S, Cruz TM, Fontes JS, Santoro Belangero VM, Vaisbich MH, Hildebrandt F, Sampson MG, Onuchic LF. Watanabe A, et al. Kidney Int Rep. 2024 Sep 12;9(12):3501-3516. doi: 10.1016/j.ekir.2024.09.005. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698360 Free PMC article.
• Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

  Tory K, Menyhárd DK, Woerner S, Nevo F, Gribouval O, Kerti A, Stráner P, Arrondel C, Huynh Cong E, Tulassay T, Mollet G, Perczel A, Antignac C. Tory K, et al. Nat Genet. 2014 Mar;46(3):299-304. doi: 10.1038/ng.2898. Epub 2014 Feb 9. Nat Genet. 2014. PMID: 24509478
• Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.

  Voskarides K, Deltas C. Voskarides K, et al. J Mol Diagn. 2009 Jul;11(4):311-8. doi: 10.2353/jmoldx.2009.080144. Epub 2009 Jun 12. J Mol Diagn. 2009. PMID: 19525337 Free PMC article.