Literature DB >> 9192863

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.

H Orimo1, M Goseki-Sone, S Sato, T Shimada.   

Abstract

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Year:  1997        PMID： 9192863     DOI： 10.1006/geno.1997.4733

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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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.  Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

Authors:  O Reish; T Dolfin; S Arnon; R Regev; G Grinshpan; M Yamazaki; K Ozono
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

4.  Choice of Feeders Is Important When First Establishing iPSCs Derived From Primarily Cultured Human Deciduous Tooth Dental Pulp Cells.

Authors:  Issei Saitoh; Emi Inada; Yoko Iwase; Hirofumi Noguchi; Tomoya Murakami; Miki Soda; Naoko Kubota; Hiroko Hasegawa; Eri Akasaka; Yuko Matsumoto; Kyoko Oka; Youichi Yamasaki; Haruaki Hayasaki; Masahiro Sato
Journal:  Cell Med       Date:  2015-08-26

5.  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

6.  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 7.  Hypophosphatasia.

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

Review 8.  Pathophysiology of hypophosphatasia and the potential role of asfotase alfa.

Authors:  Hideo Orimo
Journal:  Ther Clin Risk Manag       Date:  2016-05-17       Impact factor: 2.423

9.  Repeated human deciduous tooth-derived dental pulp cell reprogramming factor transfection yields multipotent intermediate cells with enhanced iPS cell formation capability.

Authors:  Miki Soda; Issei Saitoh; Tomoya Murakami; Emi Inada; Yoko Iwase; Hirofumi Noguchi; Shinji Shibasaki; Mie Kurosawa; Tadashi Sawami; Miho Terunuma; Naoko Kubota; Yutaka Terao; Hayato Ohshima; Haruaki Hayasaki; Masahiro Sato
Journal:  Sci Rep       Date:  2019-02-06       Impact factor: 4.379

10.  Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Authors:  C Tornero; V Navarro-Compán; J A Tenorio; S García-Carazo; A Buño; I Monjo; C Plasencia-Rodriguez; J M Iturzaeta; P Lapunzina; K E Heath; A Balsa; P Aguado
Journal:  Orphanet J Rare Dis       Date:  2020-02-17       Impact factor: 4.123
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