197 related articles for article (PubMed ID: 12162492)
1. Kinetic characterization of hypophosphatasia mutations with physiological substrates.
Di Mauro S; Manes T; Hessle L; Kozlenkov A; Pizauro JM; Hoylaerts MF; Millán JL
J Bone Miner Res; 2002 Aug; 17(8):1383-91. PubMed ID: 12162492
[TBL] [Abstract][Full Text] [Related]
2. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Baumgartner-Sigl S; Haberlandt E; Mumm S; Scholl-Bürgi S; Sergi C; Ryan L; Ericson KL; Whyte MP; Högler W
Bone; 2007 Jun; 40(6):1655-61. PubMed ID: 17395561
[TBL] [Abstract][Full Text] [Related]
3. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
Watanabe H; Takinami H; Goseki-Sone M; Orimo H; Hamatani R; Ishikawa I
Biochem Biophys Res Commun; 2005 Feb; 327(1):124-9. PubMed ID: 15629439
[TBL] [Abstract][Full Text] [Related]
4. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations.
Mornet E
Subcell Biochem; 2015; 76():25-43. PubMed ID: 26219705
[TBL] [Abstract][Full Text] [Related]
5. The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.
Takinami H; Goseki-Sone M; Watanabe H; Orimo H; Hamatani R; Fukushi-Irie M; Ishikawa I
J Med Dent Sci; 2004 Mar; 51(1):67-74. PubMed ID: 15137467
[TBL] [Abstract][Full Text] [Related]
6. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
Mumm S; Jones J; Finnegan P; Henthorn PS; Podgornik MN; Whyte MP
Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933
[TBL] [Abstract][Full Text] [Related]
7. Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.
Peach CA; Zhang Y; Wordsworth BP
Rheumatology (Oxford); 2007 Jun; 46(6):1037-40. PubMed ID: 17409132
[No Abstract] [Full Text] [Related]
8. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.
Hérasse M; Spentchian M; Taillandier A; Mornet E
Eur J Hum Genet; 2002 Oct; 10(10):666-8. PubMed ID: 12357339
[TBL] [Abstract][Full Text] [Related]
9. 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.
Fukushi-Irié M; Ito M; Amaya Y; Amizuka N; Ozawa H; Omura S; Ikehara Y; Oda K
Biochem J; 2000 Jun; 348 Pt 3(Pt 3):633-42. PubMed ID: 10839996
[TBL] [Abstract][Full Text] [Related]
10. Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
Nasu M; Ito M; Ishida Y; Numa N; Komaru K; Nomura S; Oda K
FEBS J; 2006 Dec; 273(24):5612-24. PubMed ID: 17212778
[TBL] [Abstract][Full Text] [Related]
11. Functional characterization of osteoblasts and osteoclasts from alkaline phosphatase knockout mice.
Wennberg C; Hessle L; Lundberg P; Mauro S; Narisawa S; Lerner UH; Millán JL
J Bone Miner Res; 2000 Oct; 15(10):1879-88. PubMed ID: 11028439
[TBL] [Abstract][Full Text] [Related]
12. Physiological role of alkaline phosphatase explored in hypophosphatasia.
Whyte MP
Ann N Y Acad Sci; 2010 Mar; 1192():190-200. PubMed ID: 20392236
[TBL] [Abstract][Full Text] [Related]
13. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.
Waymire KG; Mahuren JD; Jaje JM; Guilarte TR; Coburn SP; MacGregor GR
Nat Genet; 1995 Sep; 11(1):45-51. PubMed ID: 7550313
[TBL] [Abstract][Full Text] [Related]
14. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H; Girschick HJ; Goseki-Sone M; Ito M; Oda K; Shimada T
J Bone Miner Res; 2001 Dec; 16(12):2313-9. PubMed ID: 11760847
[TBL] [Abstract][Full Text] [Related]
15. Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.
Narisawa S; Fröhlander N; Millán JL
Dev Dyn; 1997 Mar; 208(3):432-46. PubMed ID: 9056646
[TBL] [Abstract][Full Text] [Related]
16. Mammalian alkaline phosphatase catalysis requires active site structure stabilization via the N-terminal amino acid microenvironment.
Hoylaerts MF; Ding L; Narisawa S; Van Kerckhoven S; Millan JL
Biochemistry; 2006 Aug; 45(32):9756-66. PubMed ID: 16893177
[TBL] [Abstract][Full Text] [Related]
17. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
Uday S; Matsumura T; Saraff V; Saito S; Orimo H; Högler W
Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
[TBL] [Abstract][Full Text] [Related]
18. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
Hofmann C; Liese J; Schwarz T; Kunzmann S; Wirbelauer J; Nowak J; Hamann J; Girschick H; Graser S; Dietz K; Zeck S; Jakob F; Mentrup B
Bone; 2013 Jul; 55(1):150-7. PubMed ID: 23454488
[TBL] [Abstract][Full Text] [Related]
19. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.
Fukushi M; Amizuka N; Hoshi K; Ozawa H; Kumagai H; Omura S; Misumi Y; Ikehara Y; Oda K
Biochem Biophys Res Commun; 1998 May; 246(3):613-8. PubMed ID: 9618260
[TBL] [Abstract][Full Text] [Related]
20. Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization.
Narisawa S; Wennberg C; Millán JL
J Pathol; 2001 Jan; 193(1):125-33. PubMed ID: 11169525
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
