Results 121 to 130 of about 5,354 (221)

Fosfaattiaineenvaihdunnan säätely ja häiriöt [PDF]

, 2016
•La­bo­ra­to­riossa mi­tattu plasman fos­fori ku­vaa pääo­sin fos­faattia. Klii­ni­sessä työs­sä ter­mejä ”fos­fori” ja ”fos­faatti” käy­tetään usein syno­nyy­meinä. •Plasman fos­faatti hei­jastaa huo­nosti ko­ko ke­hon fosfaat­ti­va­ras­toja.
Koistinen, Heikki, Miettinen, Helena
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Analysis of Thisbe and Pyramus functional domains reveals evidence for cleavage of Drosophila FGFs [PDF]

, 2010
Background: As important regulators of developmental and adult processes in metazoans, Fibroblast Growth Factor (FGF) proteins are potent signaling molecules whose activities must be tightly regulated.
Stathopoulos, Angelike, Tulin, Sarah
core   +4 more sources

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.

Journal of the Formosan Medical Association = Taiwan yi zhi, 2005
Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain.
Yen-Yin, Chou, Sheau-Chiou, Chao, Shang-Chun, Tsai, Shio-Jean, Lin   +3 more
openaire   +1 more source

Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait [PDF]

, 2006
Katsumi Goji, Kayo Ozaki, Ahmad Hamim Sadewa, Hisahide Nishio, Masafumi Matsuo   +4 more
openalex   +1 more source

Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation [PDF]

, 2020
Bixia Zheng, Chunli Wang, Qiuxia Chen, Ruochen Che, Yugen Sha, Fei Zhao, Guixia Ding, Wei Zhou, Zhanjun Jia, Songming Huang, Ying Chen, Aihua Zhang   +11 more
openalex   +1 more source

OstemiR: A Novel Panel of MicroRNA Biomarkers in Osteoblastic and Osteocytic Differentiation from Mesencymal Stem Cells [PDF]

, 2013
　MicroRNAs (miRNAs) are small RNA molecules of 21–25 nucleotides that regulate cell behavior through inhibition of translation from mRNA to protein, promotion of mRNA degradation and control of gene transcription. In this study, we investigated the miRNA
Eguchi, Takanori, Hara, Emilio Satoshi, Kuboki, Takuo, Ono, Mitsuaki, Stuart K., Calderwood, Watanabe, Ken   +5 more
core   +1 more source

Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report

Педиатрическая фармакология
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva, Emma S. Grigoryan, Tatyana V. Turti, Tatiana E. Privalova, Nato D. Vashakmadze, Nina A. Krasnoshchekova   +5 more
doaj   +1 more source

Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice.

PLoS ONE, 2014
Osteocytes express multiple genes involved in mineral metabolism including PHEX, FGF23, DMP1 and FAM20C. In Hyp mice, a murine model for X-linked hypophosphatemia (XLH), Phex deficiency results in the overproduction of FGF23 in osteocytes, which leads to
Kazuaki Miyagawa, Miwa Yamazaki, Masanobu Kawai, Jin Nishino, Takao Koshimizu, Yasuhisa Ohata, Kanako Tachikawa, Yuko Mikuni-Takagaki, Mikihiko Kogo, Keiichi Ozono, Toshimi Michigami   +10 more
doaj   +1 more source

The Interaction of Biological Factors with Mechanical Signals in Bone Adaptation: Recent Developments [PDF]

, 2012
Mechanotransduction in bone is fundamental to proper skeletal development. Deficiencies in signaling mechanisms that transduce physical forces to effector cells can have severe consequences for skeletal integrity.
Robling, Alexander G.
core   +1 more source

Historia demográfica de las poblaciones de fragata común (Fregata magnificens) de la costa de Brasil: un enfoque utilizando marcadores genéticos microsatélites y cálculo bayesiano aproximado [PDF]

, 2016
The magnificent frigatebird Fregata magnificens is a seabird mainly distributed off the Pacific and Atlantic coast of America. A previous study using genetic data showed that Brazilian and Caribbean populations are isolated, representing independent ...
Pascual Real, Lucas
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