Results 21 to 30 of about 13,848 (209)

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota, Marin Ochiai, Rena Okawa, Kazuhiko Nakano   +3 more
doaj   +1 more source

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

Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia [PDF]

Journal of Dental Research, 2016
Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate.
B L, Foster, P, Kuss, M C, Yadav, T N, Kolli, S, Narisawa, L, Lukashova, E, Cory, R L, Sah, M J, Somerman, J L, Millán   +9 more
openaire   +2 more sources

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

Acidosis Is a Key Regulator of Osteoblast Ecto-Nucleotidase Pyrophosphatase/Phosphodiesterase 1 (NPP1) Expression and Activity [PDF]

, 2015
Previous work has shown that acidosis prevents bone nodule formation by osteoblasts in vitro by inhibiting mineralisation of the collagenous matrix.
Arnett, T R, Hajjawi, M O R, Key, M L, Millan, J L, Orriss, I R   +4 more
core   +2 more sources

Extracellular vesicle microRNAs contribute to the osteogenic inhibition of mesenchymal stem cells in multiple myeloma [PDF]

, 2020
Osteolytic bone disease is the major complication associated with the progression of multiple myeloma (MM). Recently, extracellular vesicles (EVs) have emerged as mediators of MM-associated bone disease by inhibiting the osteogenic differentiation of ...
Alessandro R., Carlisi M., Conigliaro A., De Luca A., Giavaresi G., Lo Bosco G., Parisi S., Raimondi L., Raimondo S., Siragusa S., Urzi O.   +10 more
core   +1 more source

Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia [PDF]

Calcified Tissue International, 2020
AbstractHypophosphatasia (HPP) is a rare inborn error of metabolism due to a decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). As the onset and severity of HPP are heterogenous, it can be challenging to determine the pathogenicity of detected rare ALPL variants in symptomatic patients.
Jandl, Nico Maximilian, Schmidt, Tobias, Rolvien, Tim, Stürznickel, Julian, Chrysostomou, Konstantin, von Vopelius, Emil, Volk, Alexander E., Schinke, Thorsten, Kubisch, Christian, Amling, Michael, Barvencik, Florian   +10 more
openaire   +2 more sources

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia [PDF]

Orphanet Journal of Rare Diseases, 2022
Abstract Background Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and teeth mineralization. The aim of this study was first, to evaluate the diagnostic utility of employing alkaline phosphatase (ALP) threshold levels to identify adults with variants in ALPL among ...
C. Tornero, V. Navarro-Compán, A. Buño, K. E. Heath, M. Díaz-Almirón, A. Balsa, J. A. Tenorio, J. Quer, P. Aguado   +8 more
openaire   +5 more sources

A Geometric Variational Approach to Bayesian Inference [PDF]

, 2019
We propose a novel Riemannian geometric framework for variational inference in Bayesian models based on the nonparametric Fisher-Rao metric on the manifold of probability density functions.
Abhijoy Saha, Barber D., Bauer M., Bhattacharyya A, Bishop C. M, Broderick T., Chen T., Ghahramani Z., Hernández-Lobato J., Hoffman M., Hoffman M. D., Jaakkola T., Karthik Bharath, Kass R. E., Kingma D. P., Kucukelbir A., Lang S, Li Y., Minka T. P, Rao C. R, Rezende D., Rényi A, Saul L. K., Sebastian Kurtek, Sigillito V. G., Srivastava A., Tan L. S, Wang C., Yeung D.   +28 more
core   +4 more sources