Literature DB >> 7833929

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

H Orimo1, Z Hayashi, A Watanabe, T Hirayama, T Hirayama, T Shimada.   

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Year:  1994        PMID： 7833929     DOI： 10.1093/hmg/3.9.1683

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  11 in total

1.  Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.

Authors:  M Fukushi-Irié; M Ito; Y Amaya; N Amizuka; H Ozawa; S Omura; Y Ikehara; K Oda
Journal:  Biochem J       Date:  2000-06-15       Impact factor: 3.857

2.  Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis.

Authors:  F Barvencik; F Timo Beil; M Gebauer; B Busse; T Koehne; S Seitz; J Zustin; P Pogoda; T Schinke; M Amling
Journal:  Osteoporos Int       Date:  2011-01-26       Impact factor: 4.507

3.  Low-energy trauma-induced intercondylar femoral fracture.

Authors:  Mathias Aeby; Tobias Wyss; Birgit Mentrup; Erdmute Kunstmann; Franz Jakob; Daniel Aeberli
Journal:  Clin Cases Miner Bone Metab       Date:  2016-10-05

4.  Hypophosphatasia - pathophysiology and treatment.

Authors:  José Luis Millán; Horacio Plotkin
Journal:  Actual osteol       Date:  2012-09-01

5.  Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

Authors:  Toshimi Michigami; Takayuki Uchihashi; Akira Suzuki; Kanako Tachikawa; Shigeo Nakajima; Keiichi Ozono
Journal:  Eur J Pediatr       Date:  2005-01-20       Impact factor: 3.183

6.  Effects of phosphates on the expression of tissue-nonspecific alkaline phosphatase gene and phosphate-regulating genes in short-term cultures of human osteosarcoma cell lines.

Authors:  Hideo Orimo; Takashi Shimada
Journal:  Mol Cell Biochem       Date:  2006-01       Impact factor: 3.396

7.  Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.

Authors:  Dina Belachew; Traci Kazmerski; Ingrid Libman; Amy C Goldstein; Susan T Stevens; Stephanie Deward; Jerry Vockley; Mark A Sperling; Arcangela L Balest
Journal:  JIMD Rep       Date:  2013-03-12

8.  The role of tissue-nonspecific alkaline phosphatase in the phosphate-induced activation of alkaline phosphatase and mineralization in SaOS-2 human osteoblast-like cells.

Authors:  Hideo Orimo; Takashi Shimada
Journal:  Mol Cell Biochem       Date:  2008-05-26       Impact factor: 3.396

Review 9.  Hypophosphatasia.

Authors:  Etienne Mornet
Journal:  Orphanet J Rare Dis       Date:  2007-10-04       Impact factor: 4.123

10.  Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.

Authors:  Katsuyuki Yokoi; Yoko Nakajima; Yasuko Shinkai; Yoshimi Sano; Mototaka Imamura; Tomoyuki Akiyama; Tetsushi Yoshikawa; Tetsuya Ito; Hiroki Kurahashi
Journal:  Mol Genet Metab Rep       Date:  2019-10-11
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