Results 31 to 40 of about 2,723,375 (158)

Spatial mapping of ectonucleotidase gene expression in the murine urinary bladder

Frontiers in Physiology, 2023
Purinergic signaling is important for normal bladder function, as it is thought to initiate the voiding reflex and modulate smooth muscle tone. The availability of adenine nucleotides and nucleosides (aka purines) at receptor sites of various cell types ...
Mafalda S. L. Aresta Branco, Brian A. Perrino, Violeta N. Mutafova-Yambolieva   +2 more
doaj   +1 more source

ALPL genotypes in patients with atypical femur fractures or other biochemical and clinical signs of hypophosphatasia

, 2021
Context: Hypophosphatasia (HPP) is a rare metabolic disorder caused by deficiency of alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to pathogenic variants of the ALPL gene, encoding the tissue non-specific alkaline ...
Masi, Laura, Cianferotti, Luisella, Iolascon, Giovanni, Cioppi, Federica, Biver, Emmanuel, Toro, Giuseppe, Ciuffi, Simone, Brandi, Maria Luisa, Marini, Francesca, Iantomasi, Teresa, Marcucci, Gemma, Giusti, Francesca, Giuseppe Toro, Laura Masi, Simone Ciuffi, Giovanni Iolascon, Teresa Iantomasi, Francesca Marini, Francesca Giusti, Emmanuel Biver, Gemma Marcucci, Federica Cioppi, Maria Luisa Brandi, Luisella Cianferotti   +23 more
core   +1 more source

Adenovirus-Based Gene Therapy for Bone Regeneration: A Comparative Analysis of In Vivo and Ex Vivo BMP2 Gene Delivery

, 2023
Adenovirus-mediated gene therapy is a promising tool in bone regenerative medicine. In this work, gene-activated matrices (GAMs) composed of (1) polylactide granules (PLA), which serve as a depot for genetic constructs or matrices for cell attachment, (2)
Viktoriia Pavlovna Basina, Irina Alekseevna Nedorubova, Anastasiia Yurevna Meglei, Andrey Vyacheslavovich Vasilyev, Timofei Evgenevich Grigoriev, Sergey Ivanovich Kutsev, Andrey Anatolevich Nedorubov, Tatiana Borisovna Bukharova, Viktoria Olegovna Mokrousova, Sergei Nicolaevich Chvalun, Yuriy Dmitrievich Zagoskin, Dmitry Vadimovich Goldshtein   +11 more
core   +1 more source

A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia

, 2021
Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused by a novel de novo heterozygous nonsense mutation in the alkaline phosphatase (ALPL).Hypophosphatasia (HPP) is ...
Kantovitz, K.R., Almeida, A.B. de, Martins, L., Machado, R.A., Lyrio, A.M., Foster, B.L., Santos, E.L. dos, Coletta, R.D., Nociti Jr, F.H.   +8 more
core   +1 more source

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

, 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
Qianqian Pang, Ou Wang, Weibo Xia, Xiaoping Xing, Yan Jiang, Mei Li, Lijun Xu   +6 more
core   +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

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

Hybrid Biofabrication of a Hierarchically Organized Periosteum‐Inspired In Vitro Platform

Advanced Healthcare Materials, EarlyView.
A hybrid biofabrication strategy integrates melt electrowriting with extrusion‐based 3D bioprinting to create a hierarchically organized periosteum‐inspired in vitro platform. Spatially defined osteogenic, fibrous, and endothelial cell‐containing compartments support long‐term culture, osteogenic maturation, and CD31+ endothelial cell organization ...
Yakui Liu, Xinggui Tian, Anne Bernhardt, Anja Lode, Max von Witzleben, Ege Kirbas, Stefan Zwingenberger, Michael Gelinsky   +7 more
wiley   +1 more source

Childhood hypophosphatasia with homozygous mutation of ALPL

, 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-
Ganapathy, Shankar Srinivas, Berkovitz, Gary, Haidet, Jaime, Ukarapong, Supamit   +3 more
core   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations

Human Genome Variation
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu   +3 more
doaj   +1 more source