190 related articles for article (PubMed ID: 10839996)
21. 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]
22. 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]
23. Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras.
Cai G; Michigami T; Yamamoto T; Yasui N; Satomura K; Yamagata M; Shima M; Nakajima S; Mushiake S; Okada S; Ozono K
J Clin Endocrinol Metab; 1998 Nov; 83(11):3936-42. PubMed ID: 9814472
[TBL] [Abstract][Full Text] [Related]
24. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia.
Watanabe H; Goseki-Sone M; Orimo H; Hamatani R; Takinami H; Ishikawa I
J Bone Miner Res; 2002 Nov; 17(11):1945-8. PubMed ID: 12412800
[TBL] [Abstract][Full Text] [Related]
25. [Tissue-nonspecific alkaline phosphatase and hypophosphatasia].
Oda K; Kinjoh NN; Sohda M; Komaru K; Amizuka N
Clin Calcium; 2014 Feb; 24(2):233-9. PubMed ID: 24473356
[TBL] [Abstract][Full Text] [Related]
26. Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.
Goseki-Sone M; Orimo H; Iimura T; Miyazaki H; Oda K; Shibata H; Yanagishita M; Takagi Y; Watanabe H; Shimada T; Oida S
J Bone Miner Res; 1998 Dec; 13(12):1827-34. PubMed ID: 9844100
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.
Lia-Baldini AS; Brun-Heath I; Carrion C; Simon-Bouy B; Serre JL; Nunes ME; Mornet E
Hum Genet; 2008 May; 123(4):429-32. PubMed ID: 18340466
[TBL] [Abstract][Full Text] [Related]
29. Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?
Utsch B; Brun-Heath I; Staatz G; Gravou-Apostolatou C; Karle S; Jacobs U; Ludwig M; Zenker M; Dörr HG; Rascher W; Mornet E; Dötsch J
Exp Clin Endocrinol Diabetes; 2009 Jan; 117(1):28-33. PubMed ID: 18523927
[TBL] [Abstract][Full Text] [Related]
30. Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Brun-Heath I; Lia-Baldini AS; Maillard S; Taillandier A; Utsch B; Nunes ME; Serre JL; Mornet E
Eur J Med Genet; 2007; 50(5):367-78. PubMed ID: 17719863
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Henthorn PS; Raducha M; Fedde KN; Lafferty MA; Whyte MP
Proc Natl Acad Sci U S A; 1992 Oct; 89(20):9924-8. PubMed ID: 1409720
[TBL] [Abstract][Full Text] [Related]
33. Hypophosphatasia: molecular diagnosis of Rathbun's original case.
Mumm S; Jones J; Finnegan P; Whyte MP
J Bone Miner Res; 2001 Sep; 16(9):1724-7. PubMed ID: 11547844
[TBL] [Abstract][Full Text] [Related]
34. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.
Taillandier A; Zurutuza L; Muller F; Simon-Bouy B; Serre JL; Bird L; Brenner R; Boute O; Cousin J; Gaillard D; Heidemann PH; Steinmann B; Wallot M; Mornet E
Hum Mutat; 1999; 13(2):171-2. PubMed ID: 10094560
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.
Silvent J; Gasse B; Mornet E; Sire JY
J Biol Chem; 2014 Aug; 289(35):24168-79. PubMed ID: 25023282
[TBL] [Abstract][Full Text] [Related]
37. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.
Henthorn PS; Whyte MP
Clin Chem; 1992 Dec; 38(12):2501-5. PubMed ID: 1360878
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.
Goseki-Sone M; Sogabe N; Fukushi-Irie M; Mizoi L; Orimo H; Suzuki T; Nakamura H; Orimo H; Hosoi T
J Bone Miner Res; 2005 May; 20(5):773-82. PubMed ID: 15824850
[TBL] [Abstract][Full Text] [Related]
40. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C; Fischbach M; Terzic J; Alembik Y; Vuillemin MO; Mornet E
Genet Couns; 2002; 13(3):289-95. PubMed ID: 12416636
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]