Sugiura K - Search Results

1

A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis.

Sugiura K, Takeichi T, Kono M, Ogawa Y, Shimoyama Y, Muro Y, Akiyama M. Sugiura K, et al. Br J Dermatol. 2012 Sep;167(3):699-701. doi: 10.1111/j.1365-2133.2012.10953.x. Epub 2012 Jun 20. Br J Dermatol. 2012. PMID: 22428995 No abstract available.

2

The novel CTSC homozygous nonsense mutation p.Lys106X in a patient with Papillon-Lefèvre syndrome with all permanent teeth remaining at over 40 years of age.

Kobayashi T, Sugiura K, Takeichi T, Akiyama M. Kobayashi T, et al. Among authors: sugiura k. Br J Dermatol. 2013 Oct;169(4):948-50. doi: 10.1111/bjd.12429. Br J Dermatol. 2013. PMID: 23662908 No abstract available.

3

Granulocyte and monocyte apheresis can control juvenile generalized pustular psoriasis with mutation of IL36RN.

Koike Y, Okubo M, Kiyohara T, Fukuchi R, Sato Y, Kuwatsuka S, Takeichi T, Akiyama M, Sugiura K, Utani A. Koike Y, et al. Among authors: sugiura k. Br J Dermatol. 2017 Dec;177(6):1732-1736. doi: 10.1111/bjd.15509. Epub 2017 Oct 1. Br J Dermatol. 2017. PMID: 28369922

4

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Takeichi T, et al. Among authors: sugiura k. Br J Dermatol. 2015 Feb;172(2):527-31. doi: 10.1111/bjd.13294. Epub 2014 Dec 30. Br J Dermatol. 2015. PMID: 25059916

5

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M. Takeichi T, et al. Among authors: sugiura k. Br J Dermatol. 2017 Sep;177(3):e62-e64. doi: 10.1111/bjd.15315. Epub 2017 Jul 19. Br J Dermatol. 2017. PMID: 28112794 No abstract available.

6

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.

Takeichi T, Kobayashi A, Ogawa E, Okuno Y, Kataoka S, Kono M, Sugiura K, Okuyama R, Akiyama M. Takeichi T, et al. Among authors: sugiura k. Br J Dermatol. 2017 Oct;177(4):e133-e135. doi: 10.1111/bjd.15442. Epub 2017 Sep 10. Br J Dermatol. 2017. PMID: 28295164 No abstract available.

7

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan.

Takeichi T, Tanahashi K, Taki T, Kono M, Sugiura K, Akiyama M. Takeichi T, et al. Among authors: sugiura k. Br J Dermatol. 2017 Jul;177(1):290-292. doi: 10.1111/bjd.15070. Epub 2017 Jun 6. Br J Dermatol. 2017. PMID: 27641630 No abstract available.

8

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

Kono M, Akiyama M, Inoue Y, Nomura T, Hata A, Okamoto Y, Takeichi T, Muro Y, McLean WHI, Shimizu H, Sugiura K, Suzuki Y, Shimojo N. Kono M, et al. Among authors: sugiura k. Br J Dermatol. 2018 Jul;179(1):190-191. doi: 10.1111/bjd.16375. Epub 2018 May 18. Br J Dermatol. 2018. PMID: 29369340 No abstract available.

9

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT.

Takeichi T, Sugiura K, Tanahashi K, Noda K, Kono M, Akiyama M. Takeichi T, et al. Among authors: sugiura k. Br J Dermatol. 2018 Nov;179(5):1210-1211. doi: 10.1111/bjd.16895. Epub 2018 Sep 25. Br J Dermatol. 2018. PMID: 29923175 No abstract available.

10

A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only.

Taki T, Takeichi T, Kono M, Sugiura K, Sugimura Y, Ishii N, Hashimoto T, Akiyama M. Taki T, et al. Among authors: sugiura k. Br J Dermatol. 2020 Jan;182(1):221-223. doi: 10.1111/bjd.18343. Epub 2019 Sep 1. Br J Dermatol. 2020. PMID: 31301230 No abstract available.

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