|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
|
30979546 |
2019 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
|
25982064 |
2015 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
|
25716980 |
2015 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
|
23688511 |
2013 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
|
22266140 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
|
23039266 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
|
22527485 |
2012 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Adult hypophosphatasia (HPP) is characterized by low serum alkaline phosphatase (S-ALP) and poorly healing fractures due to ALPL gene mutations.
|
20739387 |
2010 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.
|
19500388 |
2009 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
|
19500388 |
2009 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.
|
18455459 |
2008 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adult hypophosphatasia treated with teriparatide.
|
17213282 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hypophosphatasia.
|
17916236 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
Biomarker
|
disease |
MGD |
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
|
17539739 |
2007 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
This study indicated that the mutant (A115V) TNSALP gene produced the defective ALP enzyme and it could be recessively transmitted and be a disease-causing mutation of the adult-type hypophosphatasia.
|
15629439 |
2005 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
|
15694177 |
2005 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
[Childhood hypophosphatasia: a case report due to a novel mutation].
|
15135428 |
2004 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
|
12815606 |
2003 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
|
12920074 |
2003 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
|
11999978 |
2002 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
|
11855933 |
2002 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
|
11760847 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A molecular approach to dominance in hypophosphatasia.
|
11479741 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
|
11438998 |
2001 |
|
Adult hypophosphatasia (disorder)
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
|
11834095 |
2001 |