| 1 | ALPL, HOPS1
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| A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
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| Mentrup B, Girschick H, Jakob F, Hofmann C.
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| Bone 94:75-83. doi: 10.1016/j.bone.2016.10.022.
2017
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| 2 | ALPL, HOPS1
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| Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia.
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| Durussel J, Liu J, Campbell C, Nam HK, Hatch NE.
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| Dev Dyn 245(2):175-82. doi: 10.1002/dvdy.24370.
2016
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| 3 | ALPL, HOPS1
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| Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
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| Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B.
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| Eur J Hum Genet 22(10):1160-4. doi: 10.1038/ejhg.2014.10.
2014
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| 4 | ALPL, HOPS1
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| Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
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| Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y.
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| Cell Physiol Biochem 32(3):635-44. doi: 10.1159/000354467.
2013
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| 5 | ALPL, HOPS1
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| A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
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| Makita S, Al-Shawafi HA, Sultana S, Sohda M, Nomura S, Oda K.
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| FEBS J 279(23):4327-37. doi: 10.1111/febs.12022.
2012
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| 6 | ALPL, HOPS1
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| Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth.
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| Rodrigues TL, Foster BL, Silverio KG, Martins L, Casati MZ, Sallum EA, Somerman MJ, Nociti FH Jr.
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| J Endod 38(7):907-12. doi: 10.1016/j.joen.2012.02.008.
2012
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| 7 | ALPL, HOPS1
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| A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
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| Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre JL, Mornet E.
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| Clin Genet 73(3):245-50. Epub 2007 Oct 7. 2008
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| 8 | ALPL, HOPS1
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| A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.
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| Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E.
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| Hum Genet 123(4):429-32. Epub 2008 Mar 14. 2008
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| 9 | ALPL, HOPS1
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| Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
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| Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.
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| J Clin Endocrinol Metab 90(4):2436-9. Epub 2005 Jan 25. 2005
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| 10 | ALPL, HOPS1
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| Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
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| Watanabe H, Takinami H, Goseki-Sone M, Orimo H, Hamatani R, Ishikawa I.
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| Biochem Biophys Res Commun 327(1):124-9. 2005
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| 11 | ALPL, HOPS1
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| G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.
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| Orimo H, Shin YS, Shimada T.
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| J Inherit Metab Dis 25(7):601-2. No abstract available. 2002
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| 12 | ALPL, HOPS1
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| Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
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| Mornet E.
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| Hum Mutat 15(4):309-15. 2000
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| 13 | ALPL, HOPS1
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| Correlations of genotype and phenotype in hypophosphatasia.
|
| Zurutuza L, et al.
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| Hum Mol Genet 8(6):1039-46. 1999
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| 14 | ALPL, HOPS1
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| Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-Thr mutation associated with lethal hypophosphatasia.
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| Shibata H, et al.
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| J Biochem 123 : 968-977. 1998
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| 15 | ALPL, HOPS1
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| Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
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| Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B.
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| Eur J Hum Genet 6(4):308-14. 1998
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| 16 | ALPL, HOPS1
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| Expression of the mutant (1735T-DEL) tissue- nonspecific alkaline phosphatase gene from hypophosphatasia patients.
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| Goseki-Sone M, et al.
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| J Bone Miner Res 13 : 1827-1834. 1998
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| 17 | ALPL, HOPS1
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| Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.
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| Orimo H, Goseki-Sone M, Sato S, Shimada T.
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| Genomics 42(2):364-6. 1997
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| 18 | ALPL, HOPS1
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| Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
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| Ozono K, et al.
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| J Clin Endocrinol Metab 81 : 4458-4461. 1996
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| 19 | HOPS1, ALPL
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| Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.
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| Orimo H, et al.
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| Hum Mol Genet 3 : 1683-1684. 1994
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| 20 | ALPL, HOPS1
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| A homoallelic Gly317-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites.
|
| Greenberg CR, et al.
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| Genomics 17 : 215-217. 1993
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| 21 | ALPL, HOPS1
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| Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
|
| Henthorn PS, et al.
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| Proc Natl Acad Sci U S A 89 : 9924-9928. 1992
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| 22 | HOPS1
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| Infantile hypophosphatasia : localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers.
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| Greenberg CR, et al.
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| Am J Hum Genet 46 : 286-292. 1990
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| 23 | HOPS1
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| A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
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| Weiss MJ, Cole DE, Ray K, Whyte MP, Lafferty MA, Mulivor RA, Harris H.
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| Proc Natl Acad Sci U S A 85 : 7666-7669. 1988
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| 24 | ALPL, HOPS1
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| Infantile hypophosphatasia. Linkage with the RH locus.
|
| Chodirker BN, et al.
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| Genomics 1 : 280-282. 1987
|