Nakamura H - Search Results

1

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.

Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H. Shinkuma S, et al. Among authors: nakamura h. Hum Mutat. 2010 May;31(5):602-10. doi: 10.1002/humu.21235. Hum Mutat. 2010. PMID: 20213768

2

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Natsuga K, et al. Among authors: nakamura h. Hum Mutat. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189. Hum Mutat. 2010. PMID: 20052759

3

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease.

Natsuga K, Furuta Y, Takashima S, Nohara T, Huang HY, Shinkuma S, Nakamura H, Katsuda Y, Higashi H, Hsu CK, Fukushima S, Ujiie H. Natsuga K, et al. Among authors: nakamura h. Hum Mutat. 2022 Jul;43(7):877-881. doi: 10.1002/humu.24385. Epub 2022 Apr 28. Hum Mutat. 2022. PMID: 35446444 Free article.

4

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Sawamura D, et al. Among authors: nakamura h. J Hum Genet. 2005;50(10):543-546. doi: 10.1007/s10038-005-0290-4. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189623 Free article.

5

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Natsuga K, Nishie W, Shinkuma S, Arita K, Nakamura H, Ohyama M, Osaka H, Kambara T, Hirako Y, Shimizu H. Natsuga K, et al. Among authors: nakamura h. Hum Mutat. 2010 Oct;31(10):E1687-98. doi: 10.1002/humu.21330. Hum Mutat. 2010. PMID: 20665883 Free PMC article.

6

Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.

Natsuga K, Nishie W, Shinkuma S, Nakamura H, Matsushima Y, Tatsuta A, Komine M, Shimizu H. Natsuga K, et al. Among authors: nakamura h. J Dermatol Sci. 2011 Jan;61(1):38-44. doi: 10.1016/j.jdermsci.2010.11.008. Epub 2010 Nov 24. J Dermatol Sci. 2011. PMID: 21146372

7

Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.

Nishimura M, Nishie W, Shirafuji Y, Shinkuma S, Natsuga K, Nakamura H, Sawamura D, Iwatsuki K, Shimizu H. Nishimura M, et al. Among authors: nakamura h. Hum Mol Genet. 2016 Jan 15;25(2):328-39. doi: 10.1093/hmg/ddv478. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604146 Free article.

8

Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.

Natsuga K, Nishie W, Nishimura M, Shinkuma S, Watanabe M, Izumi K, Nakamura H, Hirako Y, Shimizu H. Natsuga K, et al. Among authors: nakamura h. Hum Mutat. 2017 Dec;38(12):1666-1670. doi: 10.1002/humu.23344. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28941359 Free article.

9

Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9.

Takashima S, Shinkuma S, Fujita Y, Nomura T, Ujiie H, Natsuga K, Iwata H, Nakamura H, Vorobyev A, Abe R, Shimizu H. Takashima S, et al. Among authors: nakamura h. J Invest Dermatol. 2019 Aug;139(8):1711-1721.e4. doi: 10.1016/j.jid.2019.02.015. Epub 2019 Mar 1. J Invest Dermatol. 2019. PMID: 30831133 Free article.

10

COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Sawamura D, Sato-Matsumura K, Shibata S, Tashiro A, Furue M, Goto M, Sakai K, Akiyama M, Nakamura H, Shimizu H. Sawamura D, et al. Among authors: nakamura h. J Hum Genet. 2006;51(5):418-423. doi: 10.1007/s10038-006-0378-5. Epub 2006 Mar 24. J Hum Genet. 2006. PMID: 16557343 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

10,634 results

Search Page

Filters