Results 31 to 40 of about 10,054 (208)

AFF4 Loss Compromises Osteogenesis of Orofacial Mesenchymal Stem Cells During Alveolar Bone Repair via AMPK-Mediated Mitophagy. [PDF]

Cell Prolif
Compromised alveolar socket healing following tooth extraction upon Aff4 knockout is caused by suppressed osteogenic capacity of orofacial mesenchymal stem cells, which results from defective AMPK‐mediated mitophagy. ABSTRACT Repair of maxillofacial bone defects presents significant clinical challenges.
Zhu L, Chen S, Luo G, Zhang T, Lin H, Chen Y, Zhou C, Zou S.   +7 more
europepmc   +2 more sources

Diagnostic accuracy of novel mRNA blood biomarkers of infection to predict outcomes in emergency department patients with undifferentiated abdominal pain

Scientific Reports, 2023
Abdominal pain represents greater than 20% of US Emergency Department (ED) visits due to a wide range of illnesses. There are currently no reliable blood biomarkers to predict serious outcomes in patients with abdominal pain.
Andrew C. Meltzer, Richard S. Wargowsky, Seamus Moran, Tristan Jordan, Ian Toma, Tisha Jepson, Shiyu Shu, Yan Ma, Timothy A. McCaffrey   +8 more
doaj   +1 more source

Compounded PHOSPHO1/ALPL Deficiencies Reduce Dentin Mineralization [PDF]

Journal of Dental Research, 2013
Phosphatases are involved in bone and tooth mineralization, but their mechanisms of action are not completely understood. Tissue-nonspecific alkaline phosphatase (TNAP, ALPL) regulates inhibitory extracellular pyrophosphate through its pyrophosphatase activity to control mineral propagation in the matrix; mice without TNAP lack ...
M D, McKee, M C, Yadav, B L, Foster, M J, Somerman, C, Farquharson, J L, Millán   +5 more
openaire   +2 more sources

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

PLoS Computational Biology, 2022
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization and is highly variable in its clinical phenotype.
Fei Xiao, Ziyun Zhou, Xingyu Song, Mi Gan, Jie Long, Gennady Verkhivker, Guang Hu   +6 more
doaj   +1 more source

Using Tumor-Infiltrating Immune Cells and a ceRNA Network Model to Construct a Prognostic Analysis Model of Thyroid Carcinoma

Frontiers in Oncology, 2021
Thyroid carcinoma is a solid malignant tumor that has had a fast-growing incidence in recent years. Our research used thyroid carcinoma gene expression profiling from TCGA (The Cancer Genome Atlas) database to identify differentially expressed ceRNAs ...
Fan Zhang, Xiaohui Yu, Zheyu Lin, Xichang Wang, Tiantian Gao, Di Teng, Weiping Teng   +6 more
doaj   +1 more source

Identifying adult hypophosphatasia in the rheumatology unit

Orphanet Journal of Rare Diseases, 2022
Background The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis.
Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina, Roland Kocijan   +9 more
doaj   +1 more source

A Novel Case of Concomitant PHEX and ALPL Mutation In a Family With Rickets

JCEM Case Reports, 2023
Abstract Currently, no published cases report concomitant X-linked hypophosphatemia (XLH) and adult hypophosphatasia (HPP). Both diseases share clinical phenotypes that are almost indistinguishable. The correct diagnosis may be missed without a standardized laboratory and genetic testing approach.
Carmen Polanco Santos, Juana Cordero Garate, Leila Zeinab Khan   +2 more
openaire   +2 more sources

Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth

, 2023
Bone growth plate abnormalities and skull shape defects are seen in hypophosphatasia, a heritable disorder in humans that occurs due to the deficiency of tissue nonspecific alkaline phosphatase (TNAP, Alpl) enzyme activity.
Nan Hatch, Fei Liu, Hwa Kyung Nam, Naoto Ohkura   +3 more
core   +1 more source

Additional file 2 of Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia

, 2022
Additional file 2. Table S2: List of subjects included in +GT group with heterozygous pathogenic or likely pathogenic ALPL ...
J. A. Tenorio (12193872), V. Navarro-Compán (8460207), A. Buño (8460216), K. E. Heath (12193866), A. Balsa (8460234), P. Aguado (8460237), C. Tornero (12193863), J. Quer (12193875), M. Díaz-Almirón (12193869)   +8 more
core   +1 more source

Diagnosis of Hypophosphatasia in Adults Presenting With Metatarsal Stress Fracture: Proof‐of‐Concept for a Case‐Finding Strategy

JBMR Plus, 2021
Hypophosphatasia (HPP) is caused by loss‐of‐function mutations in ALPL resulting in decreased alkaline phosphatase (ALP) activity. Metatarsal stress fracture (MSF) is a common clinical feature of hypophosphatasia in adults.
Kenna Koehler, Said Atway, James Pipes, Steven Ing   +3 more
doaj   +1 more source