Results 51 to 60 of about 10,834 (202)

Differing calcification processes in cultured vascular smooth muscle cells and osteoblasts [PDF]

, 2019
© 2019 Published by Elsevier Inc.Arterial medial calcification (AMC) is the deposition of calcium phosphate mineral, often as hydroxyapatite, inthe medial layer of the arteries.
Arnett, Timothy R, Bourne, Lucie E, Davies, Bethan K, MacRae, Vicky E, Orriss, Isabel R, Patel, Jessal, Wheeler-Jones, Caroline P D   +6 more
core   +5 more sources

25-Hydroxyvitamin D-3 induces osteogenic differentiation of human mesenchymal stem cells [PDF]

, 2016
25-Hydroxyvitamin D-3 [25(OH)D-3] has recently been found to be an active hormone. Its biological actions are demonstrated in various cell types. 25(OH)D-3 deficiency results in failure in bone formation and skeletal deformation.
Lou, Yan-Ru, Tee, Yee Han, Toh, Tai Chong, Yu, Hanry   +3 more
core   +1 more source

Generation and characterization of two immortalized human osteoblastic cell lines useful for epigenetic studies [PDF]

, 2017
Different model systems using osteoblastic cell lines have been developed to help understand the process of bone formation. Here, we report the establishment of two human osteoblastic cell lines obtained from primary cultures upon transduction of ...
A Eddleston, AL Boskey, AR Shakoori, C Lipps, C Rentsch, Carolina Sañudo, CI Westacott, CM Cowan, D Benayahu, D Vanderschueren, Flor M. Pérez-Campo, G Jones, H Ishida, H Sudo, H Tullberg-Reinert, J Delgado-Calle, J Delgado-Calle, J Delgado-Calle, J Delgado-Calle, Jana Arozamena, Jeannette Zauers, Jesús Delgado-Calle, JN Beresford, José A. Riancho, JP Leeuwen van, LG Rao, María T. Berciano, MH Mankani, MH Mankani, Miguel Lafarga, MK Sutherland, MM Wong, MP Whyte, N Maruotti, NK Lee, PV Bodine, SA Harris, SA Stewart, SB Rodan, SH Scharla, T Matsumoto, TJ Shaw, TL Chen, Tobias May, U Valentiner, X Li, Y Suzuki   +46 more
core   +2 more sources

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum [PDF]

, 2014
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragmentation of elastic fibres in the ...
Coucke, Paul, De Paepe, Anne, Hosen, Mohammad Jakir, Le Saux, Olivier, Vanakker, Olivier   +4 more
core   +3 more sources

Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia [PDF]

Bioscience Reports, 2018
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP.
Xu, Lijun, Pang, Qianqian, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Xia, Weibo   +6 more
openaire   +2 more sources

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]

Neonatal Medicine, 2020
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day. Other symptoms included res piratory failure, requiring the use of a mechanical ventilator.
Seung Jae Lee, Dong Won Lee, Won Duck Kim   +2 more
openaire   +2 more sources

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

Frontiers in Pediatrics, 2021
Background: Craniosynostosis (CS) is defined as pre-mature fusion of one or more of the cranial sutures. CS is classified surgically as either simple or complex based on the number of cranial sutures involved.
Malak Alghamdi, Malak Alghamdi, Taghreed R. Alhumsi, Ikhlass Altweijri, Waleed H. Alkhamis, Omar Barasain, Kelly J. Cardona-Londoño, Reshmi Ramakrishnan, Francisco J. Guzmán-Vega, Stefan T. Arold, Stefan T. Arold, Ghaida Ali, Nouran Adly, Hebatallah Ali, Ahmed Basudan, Muhammed A. Bakhrebah   +15 more
doaj   +1 more source

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia

Indian Journal of Endocrinology and Metabolism
Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic ...
Melkunte S. Dhananjaya, S. Thrupti, Hamsa V. Reddy, Anusha Nadig, Kenchappa S. Adarsh, Swati Jadhav, Parvathy Lalitha, Sandhya Nair, Shaila Bhattacharyya, Anurag Lila, Vijaya Sarathi   +10 more
doaj   +1 more source

Genome-wide association study on serum alkaline phosphatase levels in a Chinese population [PDF]

, 2013
Background: Serum alkaline phosphatase (ALP) is a complex phenotype influenced by both genetic and environmental factors. Recent Genome-Wide Association Studies (GWAS) have identified several loci affecting ALP levels; however, such studies in Chinese ...
Dai, Xiayun, Deng, Qifei, Deng, Siyun, Guan, Lei, Gui, Lixuan, Guo, Huan, He, Meian, He, Yunfeng, Hu, Die, Hu, Frank B, Huang, Suli, Lang, Mingjian, Li, Dongfeng, Li, Jun, Lin, Dongxin, Min, Xinwen, Wang, Tian, Wu, Chen, Wu, Tangchun, Yang, Binyao, Yang, Handong, Yuan, Jing, Zhou, Li, Zhu, Jiang   +23 more
core   +2 more sources

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

Bone
Hypophosphatasia (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). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care ...
Mariam R, Farman, Catherine, Rehder, Theodora, Malli, Cheryl, Rockman-Greenberg, Kathryn, Dahir, Gabriel Ángel, Martos-Moreno, Agnès, Linglart, Keiichi, Ozono, Lothar, Seefried, Guillermo, Del Angel, Gerald, Webersinke, Francesca, Barbazza, Lisa K, John, Sewmi M A, Delana Mudiyanselage, Florian, Högler, Erica Burner, Nading, Erin, Huggins, Eric T, Rush, Ahmed, El-Gazzar, Priya S, Kishnani, Wolfgang, Högler   +20 more
openaire   +3 more sources