Chie Ishigami

发表

XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.

J. Egly, I. Kuraoka, F. Coin, 2007, Molecular cell.

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

M. Mandai, Y. Hirami, Masayo Takahashi, 2015, Journal of ophthalmology.

Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

A. Yasui, M. Honma, E. Neilan, 2012, Nature Genetics.

Oguchi disease masked by retinitis pigmentosa

H. Ideta, Masayo Takahashi, Chie Ishigami, 2011, Documenta Ophthalmologica.

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS

R. Kosaki, Chie Ishigami, Kiyoji Tanaka, 2015, Journal of Human Genetics.

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients

H. Nakanishi, S. Minoshima, Y. Hirami, 2014, Journal of Human Genetics.

A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration

J. Takagi, A. Ogata, M. Ikawa, 2013, Nature Communications.

Use of Lectins to Enrich Mouse ES-Derived Retinal Progenitor Cells for the Purpose of Transplantation Therapy

M. Mandai, Masayo Takahashi, H. Ikeda, 2010, Cell transplantation.

[A case of Oguchi disease with disappearance of golden tapetal-like fundus reflex after vitreous resection].

Y. Hirami, Masayo Takahashi, Y. Kurimoto, 2011, Nippon Ganka Gakkai zasshi.

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Shinsei Minoshima, Miho Sato, Tadashi Yokoi, 2012, PloS one.

Mizuo–Nakamura phenomenon in X-linked retinoschisis

K. Wakabayashi, Chie Ishigami, Yuka Sakai-Wakabayashi, 2022, American journal of ophthalmology case reports.

Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs.

M. Mandai, Y. Hirami, Masayo Takahashi, 2008, Investigative ophthalmology & visual science.