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Enamel defects in the Alpl-/- murine model of infantile hypophosphatasia

Enamel defects in the Alpl-/- murine model of infantile hypophosphatasia
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Childhood Hypophosphatasia With Homozygous Mutation of ALPL

Endocrine Practice, 2014
To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia.Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented.A 13-year-old male presented with chronic left knee pain.
Supamit, Ukarapong, Shankar Srinivas, Ganapathy, Jaime, Haidet, Gary, Berkovitz   +3 more
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Genetic analysis of adults heterozygous for ALPL mutations

Journal of Bone and Mineral Metabolism, 2017
Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL gene. Patients have consistently low serum alkaline phosphatase (AP), so that this parameter is a good hallmark of the disease.
Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Debiais, Françoise, Guggenbuhl, Pascal, Roux, Christian, Cormier, Catherine, Cortet, Bernard, Porquet-Bordes, Valérie, Coury, Fabienne, Geneviève, David, Chiesa, Jean, Colin, Thierry, Fletcher, Elaine, Guichet, Agnès, Javier, Rose-Marie, Laroche, Michel, Laurent, Michael, Lausch, Ekkehart, Leheup, Bruno, Lukas, Cédric, Schwabe, Georg, van Der Burgt, Ineke, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne   +25 more
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Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients

Calcified Tissue International, 2019
Hypophosphatasia (HPP) is highly variable in clinical expression and is generally classified into six subtypes. Although it would be beneficial to be able to predict the clinical course from the ALPL genotype, studies on this issue are limited. Here, we aimed to clarify the features of Japanese HPP and the relationships between genotype and clinical ...
Toshimi, Michigami, Kanako, Tachikawa, Miwa, Yamazaki, Masanobu, Kawai, Takuo, Kubota, Keiichi, Ozono   +5 more
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Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

Human mutation, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia.
Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, Mornet, E.   +17 more
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lncRNA HOTAIR Inhibits Mineralization in Osteoblastic Osteosarcoma Cells by Epigenetically Repressing ALPL

Calcified Tissue International, 2018
HOTAIR is a lncRNA that plays critical role in gene regulation and chromatin dynamics through epigenetic mechanisms. In this work we studied the physiological role of HOTAIR during the process of mineralization using osteoblastic osteosarcoma cells focusing in ALPL (Tissue Non-Specific Alkaline Phosphatase), a pivotal gene that controls bone formation.
Aya, Misawa, Hideo, Orimo
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[Analysis of ALPL gene variant in a patient with infantile hypophosphatasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing.
Yan, Cui, Yingxian, Zhang, Dongxia, Fu, Xiaojing, Liu, Haiyan, Wei   +4 more
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A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia

Bone, 2017
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase,
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann   +3 more
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ALPL gene mutation in a family

Bone Abstracts, 2019
Silvia Vai, Francesca Broggi, Bianchi Maria Luisa, Emanuela Ponti, Alessandra Mihalich, Di Blasio Anna Maria   +5 more
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