Results 61 to 70 of about 10,054 (208)

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report

Journal of the Endocrine Society, 2023
Abstract Disclosure: K. Alkwatli: None. L.Z. Khan: None. Introduction: Hypophosphatasia is a rare hereditary disorder caused by loss of tissue nonspecific alkaline phosphatase activity, an essential enzyme in phosphate metabolism. Severe cases present perinatally and in early childhood.
Alkwatli, Kenda, Khan, Leila Zeinab
openaire   +1 more source

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

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

Calidad de vida en pacientes con fosfatasa alcalina persistentemente baja portadores o no de mutaciones del gen ALPL [PDF]

, 2022
Introducción: Los niveles bajos de fosfatasa alcalina (FAlc) en suero son el sello distintivo de la hipofosfatasia, un trastorno debido a variantes patogénicas del gen ALPL.
Riancho Moral, José Antonio, Lapunzina, P., Vega, A. I., Riancho Zarrabeitia, Leyre, Tenorio, J., Mediavilla Martínez, E., Heath, K., Santurtún Zarrabeitia, Maite, Gallego, N.   +8 more
core  

Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations

Bone, 2021
ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia (HPP), an inborn error-of-metabolism that produces skeletal and dental mineralization defects.
K, Kramer, M B, Chavez, A T, Tran, F, Farah, M H, Tan, T N, Kolli, E J Lira, Dos Santos, H F, Wimer, J L, Millán, L J, Suva, D, Gaddy, B L, Foster   +11 more
openaire   +3 more sources

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

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

A novel dominant negative variant of ALPL induces hypophosphatasia

JBMR Plus
Abstract Hypophosphatemia (HPP) is an inherited metabolic disorder characterized by defective bone and tooth mineralization, resulting from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL). Despite the wide spectrum of clinical manifestations associated with ALPL mutations, the genotype–phenotype relationship
Guifeng Chen, Qinghua Liao, Tong Xing, Xinjie Zhang, Hailong Ma, Yu Cao, Qun Cheng, An Qin, Peixiang Ma   +8 more
openaire   +2 more sources

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

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source