Results 11 to 20 of about 4,164 (178)
Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media. [PDF]
PLoS ONE, 2012 Genetic susceptibility underlying otitis media (OM) remains to be understood. We show in this study that mutation in Phex gene predisposes the BALB/c-Phex(Hyp-Duk)/Y (abbreviated Hyp-Duk/Y) mice to OM, which occurs at post-natal day 21 (P21) with an ...
Fengchan Han +6 more
doaj +4 more sources
Journal of the Endocrine Society, 2021 Abstract Phosphorous has a critical role in multiple biological functions in the body, such as skeletal mineralization, and an imbalance of this can lead to several musculoskeletal disorders. An important regulator of renal phosphate excretion is fibroblast growth factor 23 (FGF23) which is produced by osteocytes and osteoblasts ...
openaire +1 more source
Phenotypes of a family with XLH with a novel PHEX mutation [PDF]
Human Genome Variation, 2020 AbstractX-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly.
Akiko Yamamoto +4 more
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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. [PDF]
PLoS ONE, 2018 Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.Clinical features and mutation spectrum were ...
Sezer Acar +18 more
doaj +1 more source
Philippine Periodic Health Examination (PHEX) Guidelines. [PDF]
Acta Med PhilippVarious screening tests are currently available and used in the Philippines. The primary goal of screening is to detect diseases or their risk factors early in apparently healthy and asymptomatic individuals so that interventions may be instituted to reduce morbidity and mortality.
Tan-Lim CSC +3 more
europepmc +2 more sources
Molecular Genetics & Genomic Medicine, 2020 Background X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR).
Baowei Li +9 more
doaj +1 more source
PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]
PLoS ONE, 2014 ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk +2 more
doaj +1 more source
Effects of PHEX Antisense in Human Osteoblast Cells [PDF]
Journal of the American Society of Nephrology, 2002 X-linked hypophosphatemia (XLH) is an X-linked dominant disorder that is characterized by rachitic bone disease and hypophosphatemia due to renal phosphate transport defect. The candidate gene for XLH, PHEX, has recently been identified and found to share high homology with endopeptidases.
Nengjen Remi, Shih +2 more
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Endokrynologia Polska, 2021 INTRODUCTION: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene.
Monika Obara-Moszynska +5 more
doaj +1 more source
PHEX gene and hypophosphatemia [PDF]
Kidney International, 2000 PHEX gene and hypophosphatemia. X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are diseases that have in common abnormal proximal renal tubular function resulting in increased renal clearance of inorganic phosphorus and hypophosphatemia. The recent discovery of the PHEX gene has provided new insights to these disorders.
openaire +2 more sources