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Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
Okada E, Aoto Y, Horinouchi T, Yamamura T, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Suzuki R, Usui J, Yamagata K, Iijima K, Nozu K. Okada E, et al. Among authors: yamamura t. Clin Exp Nephrol. 2023 Mar;27(3):218-226. doi: 10.1007/s10157-022-02294-x. Epub 2022 Nov 12. Clin Exp Nephrol. 2023. PMID: 36371577 Free PMC article.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Among authors: yamamura t. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome.
Hirayama R, Toyohara K, Watanabe K, Otsuki T, Araoka T, Mae SI, Horinouchi T, Yamamura T, Okita K, Hotta A, Iijima K, Nozu K, Osafune K. Hirayama R, et al. Among authors: yamamura t. Commun Biol. 2023 Sep 28;6(1):854. doi: 10.1038/s42003-023-05203-4. Commun Biol. 2023. PMID: 37770589 Free PMC article.
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R, Sakakibara N, Ichikawa Y, Kitakado H, Ueda C, Tanaka Y, Okada E, Kondo A, Ishiko S, Ishimori S, Nagano C, Yamamura T, Horinouchi T, Okamoto T, Nozu K. Suzuki R, et al. Among authors: yamamura t. Kidney Int Rep. 2023 Jul 4;8(9):1811-1821. doi: 10.1016/j.ekir.2023.06.019. eCollection 2023 Sep. Kidney Int Rep. 2023. PMID: 37705905 Free PMC article.
Clinical characteristics and outcomes of immune-complex membranoproliferative glomerulonephritis and C3 glomerulopathy in Japanese children.
Ueda C, Horinouchi T, Inoki Y, Ichikawa Y, Tanaka Y, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yamamura T, Fujimura J, Kamiyoshi N, Ishimori S, Ninchoji T, Kaito H, Shima Y, Iijima K, Nozu K, Yoshikawa N. Ueda C, et al. Among authors: yamamura t. Pediatr Nephrol. 2024 Apr 25. doi: 10.1007/s00467-024-06377-7. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38662234
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan. Jia X, et al. J Am Soc Nephrol. 2018 Aug;29(8):2189-2199. doi: 10.1681/ASN.2017080859. Epub 2018 Jul 16. J Am Soc Nephrol. 2018. PMID: 30012571 Free PMC article.
Clinical and histological features in pediatric and adolescent/young adult patients with renal disease: a cross-sectional analysis of the Japan Renal Biopsy Registry (J-RBR).
Urushihara M, Sato H, Shimizu A, Sugiyama H, Yokoyama H, Hataya H, Matsuoka K, Okamoto T, Ogino D, Miura K, Hamada R, Hibino S, Shima Y, Yamamura T, Kitamoto K, Ishihara M, Konomoto T, Hattori M; the Committee for Renal Biopsy and Disease Registry of the Japanese Society of Nephrology. Urushihara M, et al. Among authors: yamamura t. Clin Exp Nephrol. 2021 Sep;25(9):1018-1026. doi: 10.1007/s10157-021-02077-w. Epub 2021 May 28. Clin Exp Nephrol. 2021. PMID: 34047871
Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.
Okada E, Morisada N, Horinouchi T, Fujii H, Tsuji T, Miura M, Katori H, Kitagawa M, Morozumi K, Toriyama T, Nakamura Y, Nishikomori R, Nagai S, Kondo A, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Usui J, Yamagata K, Iijima K, Imasawa T, Nozu K. Okada E, et al. Among authors: yamamura t. Kidney Int Rep. 2023 Mar 13;8(5):1127-1129. doi: 10.1016/j.ekir.2023.02.1090. eCollection 2023 May. Kidney Int Rep. 2023. PMID: 37180508 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. Among authors: yamamura t. 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.
1,270 results