Results 21 to 30 of about 10,054 (208)

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations [PDF]

Frontiers in Endocrinology, 2022
BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.
Maite Santurtún, Eva Mediavilla-Martinez, Ana I. Vega, Natalia Gallego, Natalia Gallego, Karen E. Heath, Karen E. Heath, Jair A. Tenorio, Jair A. Tenorio, Pablo Lapunzina, Pablo Lapunzina, Leyre Riancho-Zarrabeitia, José A. Riancho   +12 more
doaj   +2 more sources

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

International Journal of Molecular Sciences, 2022
The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP). The proband and her family were evaluated by medical and dental histories, biochemical analyses, radiographic imaging, and genetic analysis of the tissue-nonspecific alkaline phosphatase (ALPL) gene.
Luciane Martins, Luis Gustavo F. Lessa, Taccyanna M. Ali, Monize Lazar, Chong A. Kim, Kamila R. Kantovitz, Mauro P. Santamaria, Cássia F. Araújo, Carolina J. Ramos, Brian L. Foster, José Francisco S. Franco, Débora Bertola, Francisco H. Nociti   +12 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
openaire   +4 more sources

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Taiwanese Journal of Obstetrics and Gynecology, 2022
One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested.The ALPL gene mutations were identified. Maternal heterozygous deletion on Chr1: 21880592 (GRCh37) TA->T, paternal heterozygous insertion on Chr1 21894597 ...
Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang   +4 more
openaire   +4 more sources

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia [PDF]

Osteoporosis International
Low serum alkaline phosphatase is the biochemical hallmark of hypophosphatasia. However, it is a non-specific finding. Here we show that a 2-day vitamin B6 challenge is useful to identify carriers of ALPL gene mutations among patients with low serum alkaline phosphatase, with specificity and sensitivity over 90%.Hypophosphatasia (HPP) is a disorder ...
Alvarez, Sofía, Ocampo Ibañez, Amelia, Caso, Patricia C., Real Bolt, Álvaro del, Puente Ruiz, Nuria, Vega, Ana I., Riancho Zarrabeitia, Leyre, Riancho Moral, José Antonio, García Unzueta, María Teresa   +8 more
openaire   +4 more sources

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +2 more sources

Overexpression of hsa-miR-125b during osteoblastic differentiation does not influence levels of Runx2, osteopontin, and ALPL gene expression

Brazilian Journal of Medical and Biological Research, 2013
Multipotent mesenchymal stromal cells (MSCs) were first isolated from bone marrow and then from various adult tissues including placenta, cord blood, deciduous teeth, and amniotic fluid.
M.T. Pinto, L.D.F. Nicolete, E.S. Rodrigues, P.V.B. Palma, M.D. Orellana, S. Kashima, D.T. Covas   +6 more
doaj   +2 more sources

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton. [PDF]

Adv Sci (Weinh)
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Bourne LE, Sharma A, Dillon S, Keen J, Jayash SN, Crump N, Evans LAE, Karmali M, Promruk W, Clarkin CE, Narisawa S, Stephen L, Foster BL, Millán JL, Farquharson C, Staines KA.   +15 more
europepmc   +2 more sources

Six ALPL gene variants in five children with hypophosphatasia [PDF]

Annals of Translational Medicine, 2021
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP children to investigate the pathogenic mechanisms of the ALPL gene ...
Su, Na, Zhu, Min, Cheng, Xinran, Xu, Ke, Kocijan, Roland, Zhang, Huijiao   +5 more
openaire   +2 more sources

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia [PDF]

Frontiers in Genetics, 2021
Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to
Qiang Zhang, Qiang Zhang, Zailong Qin, Zailong Qin, Shang Yi, Hao Wei, Xun zhao Zhou, Fei Shen   +7 more
openaire   +3 more sources