Hypophosphatasia (Q21202964)

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Language	Label	Description	Also known as
English	Hypophosphatasia	scientific article

Statements

scholarly article

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2 references

24 March 2019

22 April 2019

Hypophosphatasia (English)

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hypophosphatasia

2 references

24 March 2019

22 April 2019

author name string

Etienne Mornet

1

author given names

Etienne

author last names

Mornet

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

4 October 2007

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24 March 2019

22 April 2019

Orphanet Journal of Rare Diseases

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24 March 2019

22 April 2019

2

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40

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1

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-2-40

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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Marrow cell transplantation for infantile hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Correlations of genotype and phenotype in hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Structure of the human liver/bone/kidney alkaline phosphatase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

19 March 2017

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Site-directed mutagenesis and epitope-mapped monoclonal antibodies define a catalytically important conformational difference between human placental and germ cell alkaline phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Hypophosphatasia. Review of 24 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

12 September 2017

Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

27 September 2017

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

30 May 2018

Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

30 May 2018

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

30 May 2018

Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

30 May 2018

Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

30 May 2018

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Tissue-nonspecific alkaline phosphatase with an Asp(289)-->Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Kinetic characterization of hypophosphatasia mutations with physiological substrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Characterization of a family with dominant hypophosphatasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2164941

29 November 2018

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 n

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of hypophosphatasia with severe periodontitis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult hypophosphatasia treated with teriparatide

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twenty-year follow-up of a case of hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphatidylinositol anchor of HeLa cell alkaline phosphatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular approach to dominance in hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of adult dental anomalies in familial hypophosphatasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras

1 reference

https://pubmed.ncbi.nlm.nih.gov/17916236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mammalian Alkaline Phosphatases

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-2-40

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1186/1750-1172-2-40

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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