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474 results on '"Furihata K"'

7. Identification of two novel mutations in the OCRLI gene in Japanese families with Lowe syndrome

Author

Keiko Wakui, Furihata K, Arakawa K, Takeo Kubota, Shimazu M, Akihiro Sakurai, and Yoshimitsu Fukushima

Subjects
Genetics, Mutation, Oculocerebrorenal syndrome, Nonsense mutation, Fanconi syndrome, Biology, medicine.disease_cause, medicine.disease, Exon, medicine, Missense mutation, OCRL, Gene, Genetics (clinical)
Abstract

Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clin Genet 1998: 54: 199–202. 0 Munksgaard, 1998 The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder with features of congenital cataracts. Fanconi syndrome of the renal tubule, and mental retardation. The OCRLI gene has been positionally cloned and shown to encode a phosphatidylinositol 4.5–biphos-phate-5–phosphatase. OCRL is thus thought to be an inborn error of inositol polyphosphate metabolism. We analyzed the gene in two Japanese OCRL patients and their families by DNA sequencing and mismatch polymerase chain reaction (PCR) followed by restriction digestion. A novel nonsense mutation (C1399T) replacing the glutamine of codon 391 (Gln 391 Stop) was identified in exon 12 in 1 patient and also in his mother. A novel missense mutation (C1743G) was identified in exon 15 in the second patient, his mother and maternal grandmother. The missense mutation predicts a substitution of serine for arginine (Ser 505 Arg) in a domain highly conserved among the inosi-tol-5–phosphatase family. Our observations expand the range of OCRLI mutations that cause Lowe syndrome. and will be useful for genetic counseling in these two Fdmilies.

Published
2008

12. ChemInform Abstract: Trachyspic Acid, a New Metabolite Produced by Talaromyces trachyspermus, that Inhibits Tumor Cell Heparanase: Taxonomy of the Producing Strain, Fermentation, Isolation, Structural Elucidation, and Biological Activity.

Author

SHIOZAWA, H., primary, TAKAHASHI, M., additional, TAKATSU, T., additional, KINOSHITA, T., additional, TANZAWA, K., additional, HOSOYA, T., additional, FURUYA, K., additional, TAKAHASHI, S., additional, FURIHATA, K., additional, and SETO, H., additional

Published
2010
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48. P-34 Comparison of HCV-RNA concentrations and variations of E2/NS1 regions between before and after aids occurence in a patient with hemophilia A and hepatitis C

Author

Takeshi Sodeyama, K Suzuki, Furihata K, Akihiro Matsumoto, T Katsuyama, M Mizokami, Haruhiko Imai, C Furuwatari, K Kiyosama, Masakazu Kobayashi, Y Kitano, K Cao, Seiichi Furuta, Eiji Tanaka, and I Ueno

Subjects
Hepatology, Acquired immunodeficiency syndrome (AIDS), business.industry, medicine, Hepatitis C, medicine.disease, business, Virology
Published
1995

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