N
Nakamichi Saito
Researcher at Memorial Hospital of South Bend
Publications - 3
Citations - 281
Nakamichi Saito is an academic researcher from Memorial Hospital of South Bend. The author has contributed to research in topics: Congenital fibrosis of the extraocular muscles & Proband. The author has an hindex of 3, co-authored 3 publications receiving 260 citations.
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Journal ArticleDOI
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Koki Yamada,Caroline Andrews,Wai-Man Chan,Craig A. McKeown,Adriano Magli,Teresa de Berardinis,Anat Loewenstein,Moshe Lazar,Michael O'Keefe,Robert D. Letson,Arnold London,Mark S. Ruttum,Naomichi Matsumoto,Nakamichi Saito,Lisa Morris,Monte A. Del Monte,Roger H. Johnson,Eiichiro Uyama,Willem A. Houtman,Berendina De Vries,Thomas J. Carlow,Blaine L. Hart,Nicolas Krawiecki,John M. Shoffner,Marlene C. Vogel,James A. Katowitz,Scott M. Goldstein,Alex V. Levin,Emin Cumhur Sener,Banu T. Öztürk,A. Nurten Akarsu,Michael C. Brodsky,Frank Hanisch,Robert P. Cruse,Alina A. Zubcov,Richard M. Robb,Peter Roggenkäemper,Irene Gottlob,Lionel Kowal,Ravi Battu,Elias I. Traboulsi,Piergiorgio Franceschini,Anna Newlin,Joseph L. Demer,Elizabeth C. Engle +44 more
TL;DR: It is shown that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by Kif21A, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.
Journal ArticleDOI
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.
Elizabeth C. Engle,Elizabeth C. Engle,Nathalie McIntosh,Koki Yamada,Koki Yamada,Bjorn A Lee,Roger Johnson,Michael O'Keefe,Robert D. Letson,Arnold London,Evan Ballard,Mark S. Ruttum,Naomichi Matsumoto,Nakamichi Saito,Mary Louise Z. Collins,Lisa Morris,Del Monte Monte,Adriano Magli,Teresa de Berardinis +18 more
TL;DR: Two small CFEOM1 families do not map to FEOM1, establishing genetic heterogeneity for this disorder, and these two families may harbor mutations in the FEOM3 gene, as their phenotype is consistent with linkage to this locus.
Journal ArticleDOI
DNA‐based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample
TL;DR: Results showed that the parents and fetus are heterozygotes for a base substitution at the 3′ acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP‐A, the first case of prenatal carrier detection of the disorder.