Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia [PDF]
Journal of Dental Research, 2016 Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate.
B L, Foster +9 more
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Bone Reports, 2022 Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh +6 more
doaj +1 more source
Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia [PDF]
Calcified Tissue International, 2020 AbstractHypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients.
Jandl, Nico Maximilian +10 more
openaire +2 more sources
Potential alimentärer Beeinflussbarkeit der Aktivität der Alkalischen Phosphatase bei Hypophosphatasie-assoziierten Mutationen im ALPL-Gen [PDF]
, 2023 Einleitung: Patienten mit Hypophosphatasie, einer genetischen Erkrankung mit funktionsmindernder Mutation im ALPL-Gen, stehen nur begrenzte therapeutische Optionen zur Verfügung.
Wiedemann, Philip
core
Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene
Frontiers in Endocrinology, 2023 IntroductionHypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which ...
Luis Martínez-Heredia +25 more
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Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia
Stem Cell Research, 2022 Hypophosphatasia (HPP) is a rare, inherited, metabolic, genetic disorder, which arises due to loss of function mutation in the alkaline phosphatase (ALPL) gene.
Abhay Srivastava +3 more
doaj +1 more source
Klinisches Spektrum bei Patienten mit Verdacht auf adulte Hypophosphatasie in Abhängigkeit von spezifischen Mutationen im ALPL-Gen [PDF]
, 2021 Die Hypophosphatasie (HPP) ist eine seltene metabolische Multisystemerkrankung ausgelöst durch eine geringe Aktivität der gewebsunspezifischen alkalischen Phos-phatase (TNSALP, gebräuchlich außerdem AP).
Chrysostomou, Konstantin
core
ALPL mutations in each clinical type.
, 2019 ALPL mutations in each clinical type.
Atsushi Watanabe (64183) +8 more
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CTC low-passage cultures express ALPL and have common prostate cancer genetic alterations.
, 2019 A. Low passage CTC cultures display epithelial-like cobblestone morphology. B. A PCR-based assay for human and mouse DNA confirmed the presence of human DNA in the cultures. Human and mouse-specific positive and negative control DNAs (hDNA and msDNA) are
Colin Rothwell (6743741) +20 more
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A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia
, 2021 Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL).Hypophosphatasia (HPP) is ...
Kantovitz, K.R. +8 more
core +1 more source