Results 31 to 40 of about 4,164 (178)
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets
BMC Medical Genomics, 2022 Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) account for most ...
Yixuan Cao +11 more
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Indian Journal of Ophthalmology, 2022 Purpose: To compare findings in specular microscopy, corneal topography, and noncontact meibography in polycystic ovary syndrome (PCOS) patients with healthy controls.
Ayşe Tüfekçi Balıkçı +2 more
doaj +1 more source
X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene [PDF]
Journal of Clinical Endocrinology & Metabolism, 2001 X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions.
Christie, P +4 more
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Frontiers in Pediatrics, 2023 AimX-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.
Mauro Borghi +4 more
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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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A Novel Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets [PDF]
Endocrinology and Metabolism, 2014 Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations in sporadic rickets are less ...
Yea Eun Kang +6 more
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Medicina, 2023 The present study aimed to demonstrate the immunolocalization and/or gene expressions of the enzymes and membrane transporters involved in bone mineralization after the intermittent administration of parathyroid hormone (PTH).
Takahito Mae +7 more
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Endocrine JournalOver 70 intragenic copy-number variations (CNVs) of PHEX have been identified in patients with X-linked hypophosphatemia (XLH). However, the underlying mechanism of these CNVs has been poorly investigated.
Kazuhisa Akiba +3 more
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Diagnostics, 2023 Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels ...
Carmine Pecoraro +13 more
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The chicken or the egg: PHEX, FGF23 and SIBLINGs unscrambled [PDF]
Cell Biochemistry and Function, 2012 The eggshell is an ancient innovation that helped the vertebrates' transition from the oceans and gain dominion over the land. Coincident with this conquest, several new eggshell and noncollagenous bone‐matrix proteins (NCPs) emerged. The protein ovocleidin‐116 is one of these proteins with an ancestry stretching back to the Triassic. Ovocleidin‐116 is
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