My Bibliography

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Puapatanakul P, Isaranuwatchai S, Chanakul A, Surintrspanont J, Iampenkhae K, Kanjanabuch T, Suphapeetiporn K, Charu V, Suleiman HY, Praditpornsilpa K, Miner JH. Quantitative assessment of glomerular basement membrane collagen IV α chains in paraffin sections from patients with focal segmental glomerulosclerosis and Alport gene variants. Kidney Int. 2024 May;105(5):1049-1057. doi: 10.1016/j.kint.2024.01.036. Epub 2024 Feb 22. PubMed PMID: 38401706; PubMed Central PMCID: PMC11032260.

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Puapatanakul P, Miner JH. Alport syndrome and Alport kidney diseases - elucidating the disease spectrum. Curr Opin Nephrol Hypertens. 2024 May 1;33(3):283-290. doi: 10.1097/MNH.0000000000000983. Epub 2024 Mar 13. Review. PubMed PMID: 38477333; PubMed Central PMCID: PMC10990029.

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Goodman KN, Puapatanakul P, Barton KT, He M, Miner JH, Gaut JP. A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants. Case Rep Nephrol. 2024;2024:5121375. doi: 10.1155/2024/5121375. eCollection 2024. PubMed PMID: 38444459; PubMed Central PMCID: PMC10914425.

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Nangaku M, Kitching AR, Boor P, Fornoni A, Floege J, Coates PT, Himmelfarb J, Lennon R, Anders HJ, Humphreys BD, Caskey FJ, Fogo AB. International Society of Nephrology first consensus guidance for preclinical animal studies in translational nephrology. Kidney Int. 2023 Jul;104(1):36-45. doi: 10.1016/j.kint.2023.03.007. Epub 2023 Mar 28. PubMed PMID: 37001557.

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Koehler S, Miner JH, Staruschenko A. Call for papers: podocyte physiology and pathophysiology. Am J Physiol Renal Physiol. 2023 May 1;324(5):F505-F510. doi: 10.1152/ajprenal.00045.2023. Epub 2023 Mar 9. PubMed PMID: 36892909.

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Omachi K, O'Carroll C, Miner JH. PPAR δ Agonism Ameliorates Renal Fibrosis in an Alport Syndrome Mouse Model. Kidney360. 2023 Mar 1;4(3):341-348. doi: 10.34067/KID.0006662022. PubMed PMID: 36657027; PubMed Central PMCID: PMC10103270.

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Kohler J, Omachi K, Charu V, Miner JH, Bhalla V. A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360. 2022 Nov 24;3(11):1899-1908. doi: 10.34067/KID.0005472022. eCollection 2022 Nov 24. PubMed PMID: 36514391; PubMed Central PMCID: PMC9717634.

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Muto Y, Dixon EE, Yoshimura Y, Wu H, Omachi K, Ledru N, Wilson PC, King AJ, Eric Olson N, Gunawan MG, Kuo JJ, Cox JH, Miner JH, Seliger SL, Woodward OM, Welling PA, Watnick TJ, Humphreys BD. Defining cellular complexity in human autosomal dominant polycystic kidney disease by multimodal single cell analysis. Nat Commun. 2022 Oct 30;13(1):6497. doi: 10.1038/s41467-022-34255-z. PubMed PMID: 36310237; PubMed Central PMCID: PMC9618568.

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Jiang S, Alisafaei F, Huang YY, Hong Y, Peng X, Qu C, Puapatanakul P, Jain S, Miner JH, Genin GM, Suleiman HY. An ex vivo culture model of kidney podocyte injury reveals mechanosensitive, synaptopodin-templating, sarcomere-like structures. Sci Adv. 2022 Sep 2;8(35):eabn6027. doi: 10.1126/sciadv.abn6027. Epub 2022 Aug 31. PubMed PMID: 36044576; PubMed Central PMCID: PMC9432837.

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Omachi K, Miner JH. Comparative analysis of dCas9-VP64 variants and multiplexed guide RNAs mediating CRISPR activation. PLoS One. 2022;17(6):e0270008. doi: 10.1371/journal.pone.0270008. eCollection 2022. PubMed PMID: 35763517; PubMed Central PMCID: PMC9239446.

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Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. The 2019 and 2021 International Workshops on Alport Syndrome. Eur J Hum Genet. 2022 May;30(5):507-516. doi: 10.1038/s41431-022-01075-0. Epub 2022 Mar 9. PubMed PMID: 35260866; PubMed Central PMCID: PMC8904161.

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Omachi K, Kai H, Roberge M, Miner JH. NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough. iScience. 2022 Mar 18;25(3):103891. doi: 10.1016/j.isci.2022.103891. eCollection 2022 Mar 18. PubMed PMID: 35243249; PubMed Central PMCID: PMC8866893.

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Nerger BA, Jones TM, Rose KWJ, Barqué A, Weinbaum JS, Petrie RJ, Chang J, Vanhoutte D, LaDuca K, Hubmacher D, Naba A. The matrix in focus: new directions in extracellular matrix research from the 2021 ASMB hybrid meeting. Biol Open. 2022 Jan 15;11(1). doi: 10.1242/bio.059156. Epub 2022 Jan 7. PubMed PMID: 34994383; PubMed Central PMCID: PMC8749129.

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Qu C, Roth R, Puapatanakul P, Loitman C, Hammad D, Genin GM, Miner JH, Suleiman HY. Three-Dimensional Visualization of the Podocyte Actin Network Using Integrated Membrane Extraction, Electron Microscopy, and Machine Learning. J Am Soc Nephrol. 2022 Jan;33(1):155-173. doi: 10.1681/ASN.2021020182. Epub 2021 Nov 10. PubMed PMID: 34758982; PubMed Central PMCID: PMC8763187.

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Taniguchi Y, Nagano C, Sekiguchi K, Tashiro A, Sugawara N, Sakaguchi H, Umeda C, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Kondo A, Nagai S, Nagase H, Iijima K, Miner JH, Nozu K. Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome. Kidney360. 2021 Dec 30;2(12):1968-1978. doi: 10.34067/KID.0004952021. eCollection 2021 Dec 30. PubMed PMID: 35419533; PubMed Central PMCID: PMC8986055.

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Randles MJ, Lausecker F, Kong Q, Suleiman H, Reid G, Kolatsi-Joannou M, Davenport B, Tian P, Falcone S, Potter P, Van Agtmael T, Norman JT, Long DA, Humphries MJ, Miner JH, Lennon R. Identification of an Altered Matrix Signature in Kidney Aging and Disease. J Am Soc Nephrol. 2021 Jul;32(7):1713-1732. doi: 10.1681/ASN.2020101442. Epub 2021 May 28. PubMed PMID: 34049963; PubMed Central PMCID: PMC8425653.

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Ning L, Suleiman HY, Miner JH. Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport syndrome. Am J Physiol Renal Physiol. 2021 Jul 1;321(1):F12-F25. doi: 10.1152/ajprenal.00035.2021. Epub 2021 May 24. PubMed PMID: 34029143; PubMed Central PMCID: PMC8321802.

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Omachi K, Kai H, Roberge M, Miner JH. Aminoglycoside-induced premature termination codon readthrough of COL4A5 nonsense mutations that cause Alport syndrome. Version: First. [preprint]. 2021 June. Available from: https://doi.org/10.1101/2021.06.11.448099. doi: https://doi.org/10.1101/2021.06.11.448099.

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Tsutsui K, Machida H, Nakagawa A, Ahn K, Morita R, Sekiguchi K, Miner JH, Fujiwara H. Mapping the molecular and structural specialization of the skin basement membrane for inter-tissue interactions. Nat Commun. 2021 May 10;12(1):2577. doi: 10.1038/s41467-021-22881-y. PubMed PMID: 33972551; PubMed Central PMCID: PMC8110968.

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Marahrens B, Schulze A, Wysocki J, Lin MH, Ye M, Kanwar YS, Bader M, Velez JCQ, Miner JH, Batlle D. Knockout of aminopeptidase A in mice causes functional alterations and morphological glomerular basement membrane changes in the kidneys. Kidney Int. 2021 Apr;99(4):900-913. doi: 10.1016/j.kint.2020.11.012. Epub 2020 Dec 11. PubMed PMID: 33316280.

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Omachi K, Kaseda S, Yokota T, Kamura M, Teramoto K, Kuwazuru J, Kojima H, Nohara H, Koyama K, Ohtsuki S, Misumi S, Takeo T, Nakagata N, Li JD, Shuto T, Suico MA, Miner JH, Kai H. Metformin ameliorates the severity of experimental Alport syndrome. Sci Rep. 2021 Mar 29;11(1):7053. doi: 10.1038/s41598-021-86109-1. PubMed PMID: 33782421; PubMed Central PMCID: PMC8007696.

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Maier JI, Rogg M, Helmstädter M, Sammarco A, Schilling O, Sabass B, Miner JH, Dengjel J, Walz G, Werner M, Huber TB, Schell C. EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission. Cell Rep. 2021 Mar 23;34(12):108883. doi: 10.1016/j.celrep.2021.108883. PubMed PMID: 33761352.

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Kikkawa Y, Hashimoto T, Takizawa K, Urae S, Masuda H, Matsunuma M, Yamada Y, Hamada K, Nomizu M, Liapis H, Hisano M, Akioka Y, Miura K, Hattori M, Miner JH, Harita Y. Laminin β2 variants associated with isolated nephropathy that impact matrix regulation. JCI Insight. 2021 Mar 22;6(6). doi: 10.1172/jci.insight.145908. PubMed PMID: 33749661; PubMed Central PMCID: PMC8026196.

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Kim JJ, David JM, Wilbon SS, Santos JV, Patel DM, Ahmad A, Mitrofanova A, Liu X, Mallela SK, Ducasa GM, Ge M, Sloan AJ, Al-Ali H, Boulina M, Mendez AJ, Contreras GN, Prunotto M, Sohail A, Fridman R, Miner JH, Merscher S, Fornoni A. Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome. EBioMedicine. 2021 Jan;63:103162. doi: 10.1016/j.ebiom.2020.103162. Epub 2020 Dec 16. PubMed PMID: 33340991; PubMed Central PMCID: PMC7750578.

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Lin MH, Miner JH, Hsu FF. Comprehensive Mouse Skin Ceramide Analysis on a Solid-Phase and TLC Separation with High-Resolution Mass Spectrometry Platform. Methods Mol Biol. 2021;2306:139-155. doi: 10.1007/978-1-0716-1410-5_10. PubMed PMID: 33954945.

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Ning L, Suleiman HY, Miner JH. Synaptopodin Is Dispensable for Normal Podocyte Homeostasis but Is Protective in the Context of Acute Podocyte Injury. J Am Soc Nephrol. 2020 Dec;31(12):2815-2832. doi: 10.1681/ASN.2020050572. Epub 2020 Sep 16. PubMed PMID: 32938649; PubMed Central PMCID: PMC7790210.

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Ahmad A, Santanam L, Solanki AA, Padilla L, Vlashi E, Guerrieri P, Dominello MM, Burmeister J, Joiner MC. Three discipline collaborative radiation therapy (3DCRT) special debate: Peer review in radiation oncology is more effective today than 20 years ago. J Appl Clin Med Phys. 2020 Nov;21(11):7-13. doi: 10.1002/acm2.13103. Epub 2020 Nov 24. PubMed PMID: 33232567; PubMed Central PMCID: PMC7700926.

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Kaverina NV, Eng DG, Miner JH, Pippin JW, Shankland SJ. Parietal epithelial cell differentiation to a podocyte fate in the aged mouse kidney. Aging (Albany NY). 2020 Aug 28;12(17):17601-17624. doi: 10.18632/aging.103788. Epub 2020 Aug 28. PubMed PMID: 32858527; PubMed Central PMCID: PMC7521511.

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Randles MJ, Lausecker F, Humphries JD, Byron A, Clark SJ, Miner JH, Zent R, Humphries MJ, Lennon R. Basement membrane ligands initiate distinct signalling networks to direct cell shape. Matrix Biol. 2020 Aug;90:61-78. doi: 10.1016/j.matbio.2020.02.005. Epub 2020 Mar 6. PubMed PMID: 32147508; PubMed Central PMCID: PMC7327512.

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He C, Song W, Weston TA, Tran C, Kurtz I, Zuckerman JE, Guagliardo P, Miner JH, Ivanov SV, Bougoure J, Hudson BG, Colon S, Voziyan PA, Bhave G, Fong LG, Young SG, Jiang H. Peroxidasin-mediated bromine enrichment of basement membranes. Proc Natl Acad Sci U S A. 2020 Jul 7;117(27):15827-15836. doi: 10.1073/pnas.2007749117. Epub 2020 Jun 22. PubMed PMID: 32571911; PubMed Central PMCID: PMC7354931.

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Funk SD, Bayer RH, McKee KK, Okada K, Nishimune H, Yurchenco PD, Miner JH. A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome. Kidney Int. 2020 Jul;98(1):133-146. doi: 10.1016/j.kint.2020.01.033. Epub 2020 Feb 20. PubMed PMID: 32456966; PubMed Central PMCID: PMC7311232.

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Jones LK, Lam R, McKee KK, Aleksandrova M, Dowling J, Alexander SI, Mallawaarachchi A, Cottle DL, Short KM, Pais L, Miner JH, Mallett AJ, Simons C, McCarthy H, Yurchenco PD, Smyth IM. A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development. 2020 Jun 22;147(21). doi: 10.1242/dev.189183. PubMed PMID: 32439764; PubMed Central PMCID: PMC7540250.

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Lin MH, Pope BD 3rd, Sasaki T, Keeley DP, Sherwood DR, Miner JH. Mammalian hemicentin 1 is assembled into tracks in the extracellular matrix of multiple tissues. Dev Dyn. 2020 Jun;249(6):775-788. doi: 10.1002/dvdy.159. Epub 2020 Feb 12. PubMed PMID: 32035013; PubMed Central PMCID: PMC7688012.

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Weinstock BA, Feldman DL, Fornoni A, Gross O, Kashtan CE, Lagas S, Lennon R, Miner JH, Rheault MN, Simon JF. Clinical trial recommendations for potential Alport syndrome therapies. Kidney Int. 2020 Jun;97(6):1109-1116. doi: 10.1016/j.kint.2020.02.029. Epub 2020 Apr 6. PubMed PMID: 32386680; PubMed Central PMCID: PMC7614298.

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Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, Parziale G, Gross O, Flinter FA, Miner JH, Lagas S, Gear S, Lennon R. The importance of clinician, patient and researcher collaborations in Alport syndrome. Pediatr Nephrol. 2020 May;35(5):733-742. doi: 10.1007/s00467-019-04241-7. Epub 2019 May 1. PubMed PMID: 31044288; PubMed Central PMCID: PMC7096363.

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Tahoun M, Chandler JC, Ashton E, Haston S, Hannan A, Kim JS, D'Arco F, Bockenhauer D, Anderson G, Lin MH, Marzouk S, Saied MH, Miner JH, Dattani MT, Waters AM. Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. J Clin Endocrinol Metab. 2020 Mar 1;105(3):595-9. doi: 10.1210/clinem/dgz216. PubMed PMID: 31769495; PubMed Central PMCID: PMC7048679.

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Delitsikou V, Jarad G, Rajaram RD, Ino F, Rutkowski JM, Chen CD, Santos CXC, Scherer PE, Abraham CR, Shah AM, Feraille E, Miner JH, de Seigneux S. Klotho regulation by albuminuria is dependent on ATF3 and endoplasmic reticulum stress. FASEB J. 2020 Feb;34(2):2087-2104. doi: 10.1096/fj.201900893R. Epub 2019 Dec 23. PubMed PMID: 31907991.

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Miner JH. Type IV collagen and diabetic kidney disease. Nat Rev Nephrol. 2020 Jan;16(1):3-4. doi: 10.1038/s41581-019-0229-1. PubMed PMID: 31728033.

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Gautam J, Miner JH, Yao Y. Loss of Endothelial Laminin α5 Exacerbates Hemorrhagic Brain Injury. Transl Stroke Res. 2019 Dec;10(6):705-718. doi: 10.1007/s12975-019-0688-5. Epub 2019 Jan 29. PubMed PMID: 30693425; PubMed Central PMCID: PMC6663661.

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Chan GC, Eng DG, Miner JH, Alpers CE, Hudkins K, Chang A, Pippin JW, Shankland SJ. Differential expression of parietal epithelial cell and podocyte extracellular matrix proteins in focal segmental glomerulosclerosis and diabetic nephropathy. Am J Physiol Renal Physiol. 2019 Dec 1;317(6):F1680-F1694. doi: 10.1152/ajprenal.00266.2019. Epub 2019 Oct 21. PubMed PMID: 31630546; PubMed Central PMCID: PMC6962515.

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Omachi K, Miner JH. Alport Syndrome Therapeutics: Ready for Prime-Time Players. Trends Pharmacol Sci. 2019 Nov;40(11):803-806. doi: 10.1016/j.tips.2019.07.012. Epub 2019 Aug 24. Review. PubMed PMID: 31455555.

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Lin MH, Hsu FF, Crumrine D, Meyer J, Elias PM, Miner JH. Fatty acid transport protein 4 is required for incorporation of saturated ultralong-chain fatty acids into epidermal ceramides and monoacylglycerols. Sci Rep. 2019 Sep 13;9(1):13254. doi: 10.1038/s41598-019-49684-y. PubMed PMID: 31519952; PubMed Central PMCID: PMC6744566.

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Kaverina NV, Eng DG, Freedman BS, Kutz JN, Chozinski TJ, Vaughan JC, Miner JH, Pippin JW, Shankland SJ. Dual lineage tracing shows that glomerular parietal epithelial cells can transdifferentiate toward the adult podocyte fate. Kidney Int. 2019 Sep;96(3):597-611. doi: 10.1016/j.kint.2019.03.014. Epub 2019 Mar 29. PubMed PMID: 31200942; PubMed Central PMCID: PMC7008116.

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Funk SD, Bayer RH, Miner JH. Endothelial cell-specific collagen type IV-α(3) expression does not rescue Alport syndrome in Col4a3(-)(/-) mice. Am J Physiol Renal Physiol. 2019 May 1;316(5):F830-F837. doi: 10.1152/ajprenal.00556.2018. Epub 2019 Feb 6. PubMed PMID: 30724107; PubMed Central PMCID: PMC6580247.

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Crumrine D, Khnykin D, Krieg P, Man MQ, Celli A, Mauro TM, Wakefield JS, Menon G, Mauldin E, Miner JH, Lin MH, Brash AR, Sprecher E, Radner FPW, Choate K, Roop D, Uchida Y, Gruber R, Schmuth M, Elias PM. Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope. J Invest Dermatol. 2019 Apr;139(4):760-768. doi: 10.1016/j.jid.2018.11.005. Epub 2018 Nov 22. Review. PubMed PMID: 30471252.

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Nirwane A, Johnson J, Nguyen B, Miner JH, Yao Y. Mural cell-derived laminin-α5 plays a detrimental role in ischemic stroke. Acta Neuropathol Commun. 2019 Feb 18;7(1):23. doi: 10.1186/s40478-019-0676-8. PubMed PMID: 30777135; PubMed Central PMCID: PMC6378751.

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Li Y, Junge JA, Arnesano C, Gross GG, Miner JH, Moats R, Roberts RW, Arnold DB, Fraser SE. Discs large 1 controls daughter-cell polarity after cytokinesis in vertebrate morphogenesis. Proc Natl Acad Sci U S A. 2018 Nov 13;115(46):E10859-E10868. doi: 10.1073/pnas.1713959115. Epub 2018 Oct 30. PubMed PMID: 30377270; PubMed Central PMCID: PMC6243286.

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Funk SD, Lin MH, Miner JH. Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane. Matrix Biol. 2018 Oct;71-72:250-261. doi: 10.1016/j.matbio.2018.04.008. Epub 2018 Apr 16. Review. PubMed PMID: 29673759; PubMed Central PMCID: PMC6146048.

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Fissell WH, Miner JH. What Is the Glomerular Ultrafiltration Barrier?. J Am Soc Nephrol. 2018 Sep;29(9):2262-2264. doi: 10.1681/ASN.2018050490. Epub 2018 Jul 20. Review. PubMed PMID: 30030419; PubMed Central PMCID: PMC6115656.

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Luo W, Olaru F, Miner JH, Beck LH Jr, van der Vlag J, Thurman JM, Borza DB. Alternative Pathway Is Essential for Glomerular Complement Activation and Proteinuria in a Mouse Model of Membranous Nephropathy. Front Immunol. 2018;9:1433. doi: 10.3389/fimmu.2018.01433. eCollection 2018. PubMed PMID: 29988342; PubMed Central PMCID: PMC6023961.