Results 51 to 60 of about 10,706 (212)

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

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review [PDF]

, 2018
Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals ...
Ebeling, P. (Peter), Laarschot, D.M. (Denise) van de, Milat, F. (Frances), Nguyen, Hanh H., Verkerk, A.J.H.M. (Annemieke), Zillikens, M.C. (Carola)   +5 more
core   +3 more sources

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

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

Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial [PDF]

, 2014
Background: B vitamins play an important role in homocysteine metabolism, with vitamin deficiencies resulting in increased levels of homocysteine and increased risk for stroke.
Al-Tahan, Aminoff, Aminoff, Donato, Fyfe, Grarup, Grasbeck, Hazra, Hazra, Hsu, Imerslund, Kamatani, Kirsch, Koury, Krintel, Kristiansen, Laurie, Lee, Li, Lin, Manichaikul, Matchar, McDowell, Nguyen, Ntaios, Owczarek-Lipska, Pennypacker, Pruim, Rajan, Reynolds, Selhub, Spence, Spinneker, Stabler, Stone, Stover, Tanaka, Tanner, Toole, Toole, Toprak, Van Den Bossche, Vardy, Wald, Wang, Wang, Webb, Yetley   +47 more
core   +2 more sources

ALPL regulates pro-angiogenic capacity of mesenchymal stem cells through ATP-P2X7 axis controlled exosomes secretion

Journal of Nanobiotechnology
Background Early-onset bone dysplasia is a common manifestation of hypophosphatasia (HPP), an autosomal inherited disease caused by ALPL mutation. ALPL ablation induces prototypical premature bone ageing characteristics, resulting in impaired osteogenic ...
Jiayi Dong, Wanmin Zhao, Jiangdong Zhao, Ji Chen, Ping Liu, Xueni Zheng, Dehua Li, Yang Xue, Hongzhi Zhou   +8 more
doaj   +1 more source

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   +1 more source

Extracellular calcium promotes bone formation from bone marrow mesenchymal stem cells by amplifying the effects of BMP-2 on SMAD signalling [PDF]

, 2018
Understanding the molecular events that regulate osteoblast differentiation is essential for the development of effective approaches to bone regeneration.
Aquino Martínez, Rubén Francisco, Artigas, Natalia, Gamez Molina, Beatriz, Rosa López, José Luis, Ventura Pujol, Francesc   +4 more
core   +1 more source