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Journal Abstract Search

294 related items for PubMed ID: 10690885

  • 21.
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  • 25. Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia.
    Al-Shawafi HA, Komaru K, Oda K.
    Mol Cell Biochem; 2017 Mar; 427(1-2):169-176. PubMed ID: 28000043
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  • 26. 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
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  • 27. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
    Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN.
    Genomics; 1993 Jul; 17(1):215-7. PubMed ID: 8406453
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  • 28. Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.
    Iqbal SJ, Plaha DS, Linforth GH, Dalgleish R.
    Clin Sci (Lond); 1999 Jul; 97(1):73-8. PubMed ID: 10369796
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  • 29. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
    Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M.
    J Clin Endocrinol Metab; 1996 Dec; 81(12):4458-61. PubMed ID: 8954059
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  • 31. 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
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  • 33. Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
    Kato M, Hattori T, Shimizu T, Ninagawa K, Izumihara R, Nomoto H, Tanimura K, Atsumi T.
    J Bone Miner Metab; 2020 Nov; 38(6):903-907. PubMed ID: 32772198
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  • 34. [Childhood hypophosphatasia: a case report due to a novel mutation].
    Draguet C, Gillerot Y, Mornet E.
    Arch Pediatr; 2004 May; 11(5):440-3. PubMed ID: 15135428
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  • 35. 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 29; 246(3):613-8. PubMed ID: 9618260
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  • 36. 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 29; 117(1):28-33. PubMed ID: 18523927
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  • 37. Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
    Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E.
    Hum Mutat; 2000 Mar 29; 15(3):293. PubMed ID: 10679946
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  • 39. 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 29; 10(10):666-8. PubMed ID: 12357339
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