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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Structure and Function of Disease-Causing Missense Mutations in the PHEX Gene [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2003 The PHEX gene that is mutated in patients with X-linked hypophosphatemia (XLH) encodes a protein homologous to the M13 family of zinc metallopeptidases. The present study was undertaken to assess the impact of nine PHEX missense mutations on cellular trafficking, endopeptidase activity, and protein conformation.
Yves Sabbagh +4 more
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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.
Paul T. Christie +4 more
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Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsX-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wasting, reduced 1,25 ...
Sara Ribeiro +4 more
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Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports. [PDF]
Medicine (Baltimore), 2018 Gao Y, Wang ZM, Li XL.
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Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. [PDF]
Int J Mol Med, 2018 Liao H +5 more
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A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene [PDF]
Genes (Basel)Fraga G +8 more
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A novo missense variant of the PHEX gene in patients with X-linked dominant hypophosphatemia [PDF]
, 2020 Abstract X-linked hypophosphatemia (XLH) is characterized by low serum phosphate concentration. Both males and females could be affected, and males tend to perform more severely. Identification of a pathological variation in the phosphate-regulating gene with homologies to endopeptidase on the X chromosome ( PHEX ) gene regulating phosphate ...
Peixuan Cao +4 more
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PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets [PDF]
Journal of Korean Medical Science, 2007 X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor ...
Hae‐Ryong Song +5 more
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Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets [PDF]
Pediatric Research, 2000 X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder characterized by renal phosphate wasting, abnormal vitamin D metabolism, and defects of bone mineralization. The phosphate-regulating gene on the X-chromosome (PHEX) that is defective in XLH has been cloned, and its location identified at Xp22.1.
Kohei Sato +14 more
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