Results 81 to 90 of about 10,834 (202)

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures [PDF]

JBMR Plus, 2018
ABSTRACTAtypical femoral fractures (AFFs) are uncommon and often related to prolonged bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue nonspecific alkaline phosphatase (ALPL). Moreover, mutations in the geranylgeranyl pyrophosphate synthase (GGPPS) gene, which can be inhibited by BPs, and in the enzyme of the ...
Peris, Pilar, González‐Roca, Eva, Rodríguez‐García, Sebastian C, del Mar López‐Cobo, María, Monegal, Ana, Guañabens, Núria   +5 more
openaire   +2 more sources

Injectable Porous Microspheres Loaded With Biomimetic Preconditioned Bone Marrow Mesenchymal Stem Cell‐Derived Exosomes for Vascularized Bone Regeneration

Advanced Science, EarlyView.
Schematic illustration of injectable PDA‐modified GelMA microspheres loaded with BioPre‐Exos for vascularized bone regeneration. ABSTRACT Critical‐sized bone defects remain a highly challenging clinical problem due to insufficient intrinsic self‐healing capacity.
Lijun Li, Hao Zhang, Lingtong Sun, Yingfeng Su, Yang Xu, Jian Huang, Jingchao Wen, Jinjin Zhu, Jianjun Ma, Wenbin Xu   +9 more
wiley   +1 more source

Prediction of Immune Infiltration Diagnostic Gene Biomarkers in Kawasaki Disease

Journal of Immunology Research, 2022
Kawasaki disease (KD) is characterized by disorder of immune response with unknown etiology. Immune cells may be closely related to the onset of KD. The focus of this research was to evaluate the significance of the infiltration of immune cells for this ...
Hongjun Ba, Yao Wang, Lili Zhang, Huishen Wang, Zhan-Peng Huang, Youzhen Qin   +5 more
doaj   +1 more source

Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient

Stem Cell Research, 2022
A new induced pluripotent stem cell (iPSC) line namely UOMi008-A was generated from a patient having a childhood onset of Hypophosphatasia (HPP). This patient has compound heterozygous mutations c.571G > A (p.Glu191Lys) and c.1001G > A (p.Gly334Asp) in ...
Abhay Srivastava, Elika Verma, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

The Regulatory Role of Signaling Crosstalk in Hypertrophy of MSCs and Human Articular Chondrocytes [PDF]

, 2015
Hypertrophic differentiation of chondrocytes is a main barrier in application of mesenchymal stem cells (MSCs) for cartilage repair. In addition, hypertrophy occurs occasionally in osteoarthritis (OA).
Huang, X., Karperien, H.B.J., Post, J.N., Zhong, L.   +3 more
core   +2 more sources

Hyperlipidemia Aggravates Alveolar Bone Loss via Periodontal Ligament Stem Cell Ferroptosis Through GSK3β Dependent Ubiquitin‐Mediated NRF2 Degradation

Advanced Science, EarlyView.
Lipid metabolic stress triggers ferroptosis in PDLSCs through the GSK3β/NRF2 pathway, thereby aggravating periodontal bone loss. Upregulated GSK3β promotes NRF2 ubiquitination and proteasomal degradation via β‐TrCP, suppressing NRF2 nuclear translocation and antioxidant target expression.
Yuxiao Zhang, Xiangyao Wang, Yaxin Wu, Liping Liu, Gaoshaer Nuerlan, Ahsawle Ozathaley, Xiaorui Zhang, Jinping Wang, Bowen Yang, Jing Mao, Yan Liu, Shiqiang Gong   +11 more
wiley   +1 more source

Allele polymorphism of alkaline, acid soluble phosphatase genes and vitamin D-binding protein in postmenopausal osteoporosis

Терапевтический архив, 2004
Aim. To study polymorphism of genes involved in mechanisms regulating metabolism of bone tissue: alkaline (ALPL) and acid (ACPI) phosphatases, vitamin D-bindingprotein (GC); to ascertain associations of their genotypes and alleles with osteoporosis (OP ...
M Yu Krylov, T A Korotkova, V A Myakotkin, L I Benevolenskaya   +3 more
doaj  

Predicting the Remaining Lifespan and Cultivation-Related Loss of Osteogenic Capacity of Bone Marrow Multipotential Stromal Cells Applicable across a Broad Donor Age Range [PDF]

, 2017
Background and Objectives. Culture expanded multipotential stromal cells (MSCs) have considerable potential for bone regeneration therapy but their wider use is constrained by the lack of simple and predictive assays of functional potency.
Boxall, SA, Churchman, SM, Jones, EA, McGonagle, D   +3 more
core   +3 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

JCRPE, 2020
Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP).
Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorel, Eva González-Roca, Diego Yeste, Félix Castillo   +5 more
doaj   +1 more source