Results 41 to 50 of about 2,723,375 (158)

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source

Matrix Stiffness Orchestrates Mesenchymal Stem Cell Lineage Commitment Toward Osteogenesis and Adipogenesis Through the PIEZO1/SP1/STC2 Axis

Advanced Science, EarlyView.
Matrix stiffness directs mesenchymal stem cell lineage commitment through PIEZO1‐dependent activation of the SP1/STC2 pathway. Stiff matrices favor osteogenesis and suppress adipogenesis, whereas the loss of PIEZO1 function impairs early bone formation. STC2 retains lineage‐regulatory activity even when PIEZO1 is inactive.
Shuo Zhang, Siteng Li, Wenzhong Chen, Qingcheng Song, Haiyue Zhao, Peng Wang, Yiran Zhang, Wenquan Liang, Shaowei Zheng, Juan Wang, Wei Chen, Yanbin Zhu, Yingze Zhang   +12 more
wiley   +1 more source

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

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

Infantile Hypophosphatasia: Clinical Case

Вопросы современной педиатрии, 2020
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive ...
Tatyana V. Gabrusskaya, Yana V. Panutina, Maria O. Revnova, Mikhail M. Kostik   +3 more
doaj   +1 more source

An Injectable and Self‐Reinforced Piezoelectric Hydrogel for Irregular Bone Defects Regeneration: Dynamic Epigenetic Regulation Approach

Advanced Science, EarlyView.
An injectable and self‐reinforcing RSF‐based piezoelectric hydrogel conforms to irregular bone defects and progressively strengthens in situ, overcoming the trade‐off between injectability and mechanical stability. Mechanical loading generates bioelectrical cues that promote P300‐mediated H3K9 acetylation and upregulate PTH1R expression, thereby ...
Yu‐Kai Huang, Juan Li, Miao‐Miao Yang, Chao Jia, Quan‐Xin Gong, Guang‐Cheng Yuan, Dong Zhou, Wen‐Hui Shen, Zeng‐Gan Chen, Zhi‐Rui Dong, Jin‐Wang Huang, Jie Peng, Di‐Han Su, Ming‐Dong Zhao, Jian Dong, Li‐Bo Jiang   +15 more
wiley   +1 more source

Mn/Zn Bimetallic MOF‐Integrated Hydrogel Alleviates Excessive Mitochondrial Fission in BMSCs to Promote Osteoporotic Jawbone Repair

Advanced Science, EarlyView.
Excessive reactive oxygen species (ROS) and chronic inflammation impair bone marrow‐derived mesenchymal stem cells (BMSCs), contributing to poor healing in osteoporotic jawbone defect. The gelatin methacryloyl hydrogel loaded with manganese‐doped zeolitic imidazolate framework (Mn‐ZIF‐8@GelMA) promotes regeneration through redox regulation and ...
Xiayue Jin, Shengjia Ye, Yun Yuan, Xueying Yang, Jiarui Cui, Hongming Zhang, Hui Huang   +6 more
wiley   +1 more source

Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

, 2022
The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP).
Kantovitz, Kamila R., Kim, Chong A., Araújo, Cássia F. [UNESP], Santamaria, Mauro P., Brian L. Foster, Chong A. Kim, Ali, Taccyanna M., Cássia F. Araújo, Ramos, Carolina J. [UNESP], José Francisco S. Franco, Carolina J. Ramos, Nociti, Francisco H., Lazar, Monize, Luciane Martins, Francisco H. Nociti, Monize Lazar, Foster, Brian L., Débora Bertola, Taccyanna M. Ali, Martins, Luciane, Kamila R. Kantovitz, Franco, José Francisco S., Bertola, Débora, Lessa, Luis Gustavo F., Mauro P. Santamaria, Luis Gustavo F. Lessa, Ramos, Carolina J., Araújo, Cássia F.   +27 more
core   +1 more source

Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia

Stem Cell Research
Hypophosphatasia (HPP) is characterized by loss of function variants in the alkaline phosphatase (ALPL) gene that leads to impaired mineralization in bones and teeth.
Abhay Srivastava, Dylan Walker, Jason Uzonna, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +4 more
doaj   +1 more source

Lithium‐Doped Hydroxyapatite Nanowires Rejuvenate Senescent Macrophages Via the Lysosome‐Dependent Ferroptosis Axis to Promote Aged Bone Regeneration

Advanced Science, EarlyView.
Li‐nHAP+GelMA promotes mandibular bone regeneration in aged mice by remodeling the senescent immune microenvironment. Local delivery of Li‐nHAP restores lysosomal homeostasis in senescent macrophages, reduces intracellular labile Fe2+ accumulation, ROS production, and lipid peroxidation, thereby suppressing macrophage ferroptosis and senescence ...
Baixi Chen, Ziduan Ding, Ruomei Li, Cheng Zhu, Zhiyu Zhu, Zitong Yang, Luyao Qu, Jin Hao, Lunguo Xia, Bing Fang, Lu Liu   +10 more
wiley   +1 more source