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ALPL wt Allele

Known as: AP-TNAP, TNAP, APTNAP 
Human ALPL wild-type allele is located in the vicinity of 1p36.12 and is approximately 69 kb in length. This allele, which encodes alkaline… 
National Institutes of Health

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DephosphorylationHydrolysis

Papers overview

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Highly Cited
2015
Highly Cited
2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Highly Cited
2015
Highly Cited
2015
Pathophysiological Role of Vascular Smooth Muscle Alkaline Phosphatase in Medial Artery Calcification
Medial vascular calcification (MVC) is a pathological phenomenon that causes vascular stiffening and can lead to heart failure… 
Review
2010
Review
2010
Loss of Skeletal Mineralization by the Simultaneous Ablation of PHOSPHO1 and Alkaline Phosphatase Function: A Unified Model of the Mechanisms of Initiation of Skeletal Calcification
Endochondral ossification is a carefully orchestrated process mediated by promoters and inhibitors of mineralization… 
Highly Cited
2009
Highly Cited
2009
TNF-alpha and IL-1beta inhibit RUNX2 and collagen expression but increase alkaline phosphatase activity and mineralization in human mesenchymal stem cells.
Highly Cited
2004
Highly Cited
2004
Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice.
Highly Cited
2001
Highly Cited
2001
Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization*
The human tissue nonspecific alkaline phosphatase (TNAP) is found in liver, kidney, and bone. Mutations in the TNAP gene can lead… 
Highly Cited
2000
Highly Cited
2000
Targeted insertion of Cre recombinase into the TNAP gene: Excision in primordial germ cells
system are a powerful approach to study thefunction of genes in particular cell lineages and forwhich generalized null mutations… 
Highly Cited
1999
Highly Cited
1999
Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia
Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue‐nonspecific isoenzyme of… 
Highly Cited
1999
Highly Cited
1999
Correlations of genotype and phenotype in hypophosphatasia.
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical… 
Highly Cited
1992
Highly Cited
1992
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are… 
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