Results 11 to 20 of about 2,723,375 (158)

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: 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.
Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang   +4 more
doaj   +4 more sources

The effect of hormone replacement therapy on the expression of the alkaline phosphatase gene (ALPL) within the mucosal epithelium of the cheek and in peripheral blood lymphocytes [PDF]

Current Issues in Pharmacy and Medical Sciences, 2014
In adult life, proper bone metabolism requires efficient regulation of bone formation and resorption processes. Bone turnover markers allow for assessing the rate of bone formation and resorption processes.
Rahnama Mansur, Lobacz Michal, Szyszkowska Anna, Trybek Grzegorz, Kozicka-Czupkallo Maryla   +4 more
doaj   +4 more sources

LincRNA-ASAO promotes dental pulp repair through interacting with PTBP1 to increase ALPL alternative splicing

Stem Cell Research & Therapy
Background Alternative splicing not only expands the genetic encoding of genes but also determines cellular activities. This study aimed to elucidate the regulation mechanism and biological functions of lincRNA-ASAO in the process of odontogenesis ...
Fuchun Fang, Xiaolan Guo, Sitong Liu, Longrui Dang, Zehao Chen, Yumeng Yang, Lu Chen, Jiahao Lin, Wei Qiu, Zhao Chen, Buling Wu   +10 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

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

Analysis of alkaline phosphatase, soluble acid phosphatase, low density lipoprotein and vitamin D binding protein gene polymorphisms as possible gene-candidates participating in mineral bone density determination in women with primary osteoporosis in postmenopause

Научно-практическая ревматология, 2004
Objective. To investigate the distribution of alkaline phosphatase (ALPL), acid phosphatase I (ACPI), receptor lipoprotein low density (LDLR) and vitamin D binding protein (GC) genotypes in osteoporotic ana nonosteoporotic postmenopausal women and the ...
M Y Krylov, V A Myakotkin, L L Benevolenskaya   +2 more
doaj   +2 more sources

Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase. [PDF]

J Bone Miner Res, 2020
Alonso N, Larraz-Prieto B, Berg K, Lambert Z, Redmond P, Harris SE, Deary IJ, Pugh C, Prendergast J, Ralston SH.   +9 more
europepmc   +2 more sources

The ALPL gene variant project: results of the first 100 reclassified variants. [PDF]

JBMR Plus
Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the ALPL gene, which encodes tissue non-specific alkaline phosphatase.
Farman MR, Malli T, Rehder C, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Barbazza F, Shojaei S, Ebner-Jahn J, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Tauer JT, Kishnani PS, Högler W.   +21 more
europepmc   +2 more sources

The Global ALPL gene variant classification project: Dedicated to deciphering variants [PDF]

, 2023
20.500.12530/87892Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP ...
Lothar Seefried, Ozono, Keiichi, Delana Mudiyanselage, Sewmi M A, Lisa K. John, El-Gazzar, Ahmed, Guillermo del Angel, Francesca Barbazza, Seefried, Lothar, Farman, Mariam R, Kishnani, Priya S, Nading, Erica Burner, Erica Burner Nading, Catherine Rehder, Webersinke, Gerald, Kathryn Dahir, Högler, Wolfgang, Sewmi M.A. Delana Mudiyanselage, Cheryl Rockman-Greenberg, Priya S. Kishnani, Rockman-Greenberg, Cheryl, John, Lisa K, Keiichi Ozono, Högler, Florian, Agnès Linglart, Barbazza, Francesca, Rehder, Catherine, Ahmed El-Gazzar, Del Angel, Guillermo, Dahir, Kathryn, Theodora Malli, Malli, Theodora, Florian Högler, Eric T. Rush, Rush, Eric T, Mariam R. Farman, Huggins, Erin, Linglart, Agnès, Martos-Moreno, Gabriel Ángel, Gerald Webersinke, Wolfgang Högler, Erin Huggins, Gabriel Ángel Martos-Moreno   +41 more
core   +2 more sources

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

Frontiers in Endocrinology, 2023
IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients ...
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri   +30 more
doaj   +1 more source