Results 151 to 160 of about 4,164 (178)
Some of the next articles are maybe not open access.
De novo mutation of PHEX in a type 1 diabetes patient
Journal of Pediatric Endocrinology and Metabolism, 2016AbstractA new missense mutation on the X chromosome (
Chen, Fang +7 more
openaire +2 more sources
PHEX Protein in the Parathyroid Gland Contributes to Phosphate Sensing
The Journal of Clinical Endocrinology & MetabolismAbstract Context Loss-of-function variants in the PHEX gene cause X-linked hypophosphatemia (XLH) with inappropriate secretion of fibroblast growth factor 23. The PHEX protein is therefore predicted to be involved in the phosphate (Pi)-sensing mechanism in mature osteocytes.
Koki Irie +10 more
openaire +2 more sources
[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0.
Ming-yi, Ma, Hua, Li, Yan-sen, Cai
openaire +1 more source
Dosage Effect of a Phex Mutation in a Murine Model of X-Linked Hypophosphatemia
Calcified Tissue International, 2013Shoji Ichikawa, Amie K Gray
exaly
mRNA expression of Phex in mice and rats
Endocrine, 2000Ralph A Meyer, Martha H Meyer, M H Meyer
exaly