Results 101 to 110 of about 13,848 (209)

Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia

Clinical Case Reports, 2020
The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.
Atil Bisgin, Ibrahim Boga, Cihan Cetin, Selim Buyukkurt   +3 more
doaj   +1 more source

Co‐Treatment With rhBMP‐2 and Rapamycin Modulates Osteogenesis–Adipogenesis Balance to Enhance Aged Bone Regeneration

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study demonstrates that the imbalance between osteogenic and adipogenic differentiation in senescent BMSCs, leading to excessive adipocyte accumulation, which subsequently impairs bone regeneration in aged mice. To address this pathological dysregulation, a novel energy‐supplying hydrogel system (PBR) has been developed to restore balanced ...
Zirui He, Xiaoqiao Bai, Fangru Xie, Xuan Wang, Fan Zhang, Yuanman Yu, Yuan Yuan, Changsheng Liu   +7 more
wiley   +1 more source

Escape through a time-dependent hole in the doubling map

, 2014
We investigate the escape dynamics of the doubling map with a time-periodic hole. We use Ulam's method to calculate the escape rate as a function of the control parameters.
Dettmann, Carl P., Georgiou, Orestis, Leonel, Edson D., Livorati, André L. P.   +3 more
core   +3 more sources

CGRP Enhances the Regeneration of Bone Defects by Regulating Bone Marrow Mesenchymal Stem Cells Through Promoting ANGPTL4 Secretion by Bone Blood Vessels

Advanced Science, Volume 13, Issue 14, 9 March 2026.
CGRP interacts with HMEC‐1 by binding to surface receptors, influencing the downstream FAK/AKT/VEGF signaling pathway, and promoting the secretion of ANGPTL4 from vascular endothelial cells into the bone microenvironment. This, in turn, regulates the differentiation of BMSCs into osteoblasts, thus promoting bone formation. ABSTRACT Bone angiogenesis is
Qiong Lu, Qiyue Zheng, Zhaokai Zhou, Yajun Chen, Yun Chen, Wenjie Chen, Jiaojiao Wang, Ren Guo, Ren Wu, Lina Chen   +9 more
wiley   +1 more source

Study on the Potential Molecular Mechanisms of Sodium Dehydroacetate (Na‐DHA) Interfering With Bone Metabolism and Inducing Osteoporosis Based on Network Toxicology, Molecular Docking, and In Vitro Experimental Validation

Food Science &Nutrition, Volume 14, Issue 3, March 2026.
The main workflow and core design concept of the current study. ABSTRACT Sodium Dehydroacetate (Na‐DHA), a widely used food additive, has raised concerns about the chronic health risks associated with long‐term exposure. However, the potential impact of Na‐DHA on bone metabolism, its contribution to osteoporosis risk, and the specific molecular ...
Weihong Qian, Qingqing Bao, Xiaoqing Tang, Wuchao Lu, Jiaxin Huang, Jiapeng Bao, Zhihong Yao   +6 more
wiley   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

JCRPE, 2019
Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert   +5 more
doaj   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Truncated FOS impairs osteogenic differentiation and induces prostaglandin and NFκB signalling in an in vitro cell‐of‐origin model for osteoid osteoma and osteoblastoma

The Journal of Pathology, Volume 268, Issue 3, Page 263-275, March 2026.
Abstract Osteoid osteoma and osteoblastoma are non‐malignant bone‐forming tumours of the skeleton, characterised by the presence of irregular trabeculae of woven bone. Rearrangements in FOS, and less frequently FOSB, have recently been identified in osteoid osteoma and osteoblastoma.
Suk Wai Lam, Tatiana Belova, Natasja Franceschini, Brendy van den Akker, David GP van IJzendoorn, Harald MM Mikkers, Hailiang Mei, Anne‐Marie Cleton‐Jansen, Marieke L Kuijjer, Karoly Szuhai, Judith VMG Bovée   +10 more
wiley   +1 more source

The ALPL gene variant project: results of the first 100 reclassified variants

JBMR Plus
Abstract Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase.
Farman, Mariam R, Malli, Theodora, Rehder, Catherine, Webersinke, Gerald, Rockman-Greenberg, Cheryl, Dahir, Kathryn, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Ozono, Keiichi, Seefried, Lothar, del Angel, Guillermo, Barbazza, Francesca, Shojaei, Sara, Ebner-Jahn, Jessica, Högler, Florian, Nading, Erica Burner, Huggins, Erin, Rush, Eric T, El-Gazzar, Ahmed, Tauer, Josephine T, Kishnani, Priya S, Högler, Wolfgang   +21 more
openaire   +3 more sources