Iijima K - Search Results

1

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Fujita A, et al. Among authors: iijima k. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. Ann Neurol. 2018. PMID: 30427554

2

NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.

Maruyama K, Iijima K, Ikeda M, Kitamura A, Tsukaguchi H, Yoshiya K, Hoshii S, Wada N, Uemura O, Satomura K, Honda M, Yoshikawa N. Maruyama K, et al. Among authors: iijima k. Pediatr Nephrol. 2003 May;18(5):412-6. doi: 10.1007/s00467-003-1120-6. Epub 2003 Apr 5. Pediatr Nephrol. 2003. PMID: 12687458

3

Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.

Kitamura A, Tsukaguchi H, Iijima K, Araki J, Hattori M, Ikeda M, Honda M, Nozu K, Nakazato H, Yoshikawa N, Kagami S, Muramatsu M, Choi Y, Cheong HI, Doi T. Kitamura A, et al. Among authors: iijima k. Nephrol Dial Transplant. 2006 Nov;21(11):3133-8. doi: 10.1093/ndt/gfl347. Epub 2006 Sep 12. Nephrol Dial Transplant. 2006. PMID: 16968734 No abstract available.

4

Steroid-resistant nephrotic syndrome.

Kitamura A, Tsukaguchi H, Maruyama K, Shono A, Iijima K, Kagami S, Doi T. Kitamura A, et al. Among authors: iijima k. Kidney Int. 2008 Nov;74(9):1209-15. doi: 10.1038/ki.2008.297. Epub 2008 Jul 2. Kidney Int. 2008. PMID: 18596732 Free article. No abstract available.

5

Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.

Shono A, Tsukaguchi H, Kitamura A, Hiramoto R, Qin XS, Doi T, Iijima K. Shono A, et al. Among authors: iijima k. Hum Mol Genet. 2009 Aug 15;18(16):2943-56. doi: 10.1093/hmg/ddp232. Epub 2009 May 14. Hum Mol Genet. 2009. PMID: 19443487

6

[Molecular basis of hereditary nephrotic syndromes].

Iijima K, Tsukaguchi H. Iijima K, et al. Nihon Jinzo Gakkai Shi. 2010;52(7):914-23. Nihon Jinzo Gakkai Shi. 2010. PMID: 21077341 Review. Japanese. No abstract available.

7

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.

Dwianingsih EK, Malueka RG, Nishida A, Itoh K, Lee T, Yagi M, Iijima K, Takeshima Y, Matsuo M. Dwianingsih EK, et al. Among authors: iijima k. J Hum Genet. 2014 Aug;59(8):423-9. doi: 10.1038/jhg.2014.36. Epub 2014 May 29. J Hum Genet. 2014. PMID: 24871807

8

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N. Miyake N, et al. Among authors: iijima k. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24. Am J Hum Genet. 2015. PMID: 26411495 Free PMC article.

9

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.

Hashimura Y, Morioka I, Hisamatsu C, Yokoyama N, Taniguchi-Ikeda M, Yokozaki H, Murayama K, Ohtake A, Itoh K, Takeshima Y, Iijima K. Hashimura Y, et al. Among authors: iijima k. Pediatr Int. 2016 Jul;58(7):651-5. doi: 10.1111/ped.12907. Epub 2016 Jun 6. Pediatr Int. 2016. PMID: 27264907

10

High incidence of idiopathic nephrotic syndrome in East Asian children: a nationwide survey in Japan (JP-SHINE study).

Kikunaga K, Ishikura K, Terano C, Sato M, Komaki F, Hamasaki Y, Sasaki S, Iijima K, Yoshikawa N, Nakanishi K, Nakazato H, Matsuyama T, Ando T, Ito S, Honda M; Japanese Pediatric Survey Holding Information of NEphrotic syndrome (JP-SHINE) study of the Japanese Study Group of Renal Disease in Children. Kikunaga K, et al. Among authors: iijima k. Clin Exp Nephrol. 2017 Aug;21(4):651-657. doi: 10.1007/s10157-016-1319-z. Epub 2016 Sep 2. Clin Exp Nephrol. 2017. PMID: 27590892

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