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 ...
Sonie Sunny
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A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
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PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease [PDF]
Genes, 2022 PhexL222P mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. PhexL222P mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased epiphyseal growth plate thickness and femur diameter despite the increase in PHEXL222P expression.
Carole El Hakam +6 more
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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.
Marc K. Drezner
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A Genetic Murine Model of Endolymphatic Hydrops: The Phex Mouse [PDF]
Current Otorhinolaryngology Reports, 2014 Animal models of endolymphatic hydrops (ELH) provide critical insight into the pathophysiology of Meniere's disease (MD). A new genetic murine model, called the Phex mouse, circumvents prior need for a time and cost-intensive surgical procedure to create ELH.
Cameron C. Wick +3 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
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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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A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets [PDF]
Case Reports in Genetics, 2015 X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara +4 more
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Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]
, 2018 X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A +11 more
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Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with
BMC Medical Genetics, 2011 Background Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels.
García-Miñaur Sixto +28 more
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