Condition: Hypophosphatasia


rs121918002 in ALPL gene and Hypophosphatasia PMID 25731960 2015 Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

PMID 1409720 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

PMID 10839996 2000 These findings suggest that TNSALP(R54C) interferes with folding and assembly of TNSALP (D277A) intrans when expressed in the same cell, thus probably explaining why a compound heterozygote for these mutant alleles developed severe hypophosphatasia.

PMID 19500388 2009 Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

PMID 17719863 2007 Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

PMID 20739387 2010 Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.

PMID 12357339 2002 Our results show that all the E174K mutations are carried by a common ancestral haplotype, also found at low frequency in normal and hypophosphatasia chromosomes.

PMID 24569605 2014 Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

PMID 18455459 2008 Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.

PMID 24276437 2014 Clinical and genetic aspects of hypophosphatasia in Japanese patients.

PMID 8954059 1996 Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

PMID 15137467 2004 The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia.

PMID 25023282 2014 Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.

PMID 11855933 2002 Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

PMID 15694177 2005 Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

PMID 22913777 2012 A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

PMID 26783040 2016 Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

PMID 11438998 2001 Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

PMID 10332035 1999 Correlations of genotype and phenotype in hypophosphatasia.

PMID 10094560 1999 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.

PMID 15135428 2004 [Childhood hypophosphatasia: a case report due to a novel mutation].

PMID 27179278 2016 Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

PMID 18925618 2008 Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

PMID 18821074 2009 How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases?

PMID 11760847 2001 Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

PMID 18769927 2009 Neurosurgical aspects of childhood hypophosphatasia.

PMID 30293248 2018 Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

PMID 9452105 1998 Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

PMID 12162492 2002 Kinetic characterization of hypophosphatasia mutations with physiological substrates.

PMID 10094560 1999 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.

PMID 28401263 2017 Mutational and biochemical findings in adults with persistent hypophosphatasemia.