Chie Ishigami

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

Xue Zhang, Katsuyoshi Horibata, Masafumi Saijo et al. · Nature Genetics · 2012 · 196 citations

Genome Instability, Genetics, Molecular Biology +5

XPG Stabilizes TFIIH, Allowing Transactivation of Nuclear Receptors: Implications for Cockayne Syndrome in XP-G/CS Patients

Shinsuke Ito, Isao Kuraoka, Pierre Chymkowitch et al. · Molecular Cell · 2007 · 186 citations

Xp-g/cs Patients, Xpg Stabilizes Tfiih, Pathology +5

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

Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi et al. · PLoS ONE · 2012 · 104 citations · Full text

Mendelian Disorder, Genetic Disorder, Retinitis Pigmentosa +12

Retinitis Pigmentosa with<i>EYS</i>Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

Yuuki Arai, Akiko Maeda, Yasuhiko Hirami et al. · Journal of Ophthalmology · 2015 · 71 citations · Full text

Ocular Disease, Family Members, Genetics +18

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

Satoshi Nojima, Toshihiko Toyofuku, Hiroyuki Kamao et al. · Nature Communications · 2013 · 29 citations · Full text