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346 related items for PubMed ID: 25861491

  • 21. A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
    Li B, Wang X, Hao X, Liu Y, Wang Y, Shan C, Ao X, Liu Y, Bao H, Li P.
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1262. PubMed ID: 32511895
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  • 22. Hypophosphatemic rickets.
    Baroncelli GI, Toschi B, Bertelloni S.
    Curr Opin Endocrinol Diabetes Obes; 2012 Dec; 19(6):460-7. PubMed ID: 23108197
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  • 23. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
    Kang QL, Xu J, Zhang Z, He JW, Lu LS, Fu WZ, Zhang ZL.
    Biochem Biophys Res Commun; 2012 Jul 13; 423(4):793-8. PubMed ID: 22713460
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  • 25. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.
    Goji K, Ozaki K, Sadewa AH, Nishio H, Matsuo M.
    J Clin Endocrinol Metab; 2006 Feb 13; 91(2):365-70. PubMed ID: 16303832
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  • 28. X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment.
    Kinoshita Y, Fukumoto S.
    Endocr Rev; 2018 Jun 01; 39(3):274-291. PubMed ID: 29381780
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  • 30. A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
    Terracciano A, De Bernardi ML, Novizio R, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C.
    Endocr Metab Immune Disord Drug Targets; 2023 Jun 01; 23(9):1235-1239. PubMed ID: 36847234
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  • 33. Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause.
    Sawatsubashi S, Takashi Y, Endo I, Kondo T, Abe M, Matsumoto T, Fukumoto S.
    Bone; 2024 May 01; 182():117057. PubMed ID: 38412893
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  • 36. CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).
    Sui T, Yuan L, Liu H, Chen M, Deng J, Wang Y, Li Z, Lai L.
    Hum Mol Genet; 2016 Jul 01; 25(13):2661-2671. PubMed ID: 27126636
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  • 37. Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.
    Ichikawa S, Gray AK, Bikorimana E, Econs MJ.
    Calcif Tissue Int; 2013 Aug 01; 93(2):155-62. PubMed ID: 23700148
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  • 39. PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
    Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson KL, Wenkert D, McAlister WH, Gottesman GS, Whyte MP.
    J Bone Miner Res; 2015 Jan 01; 30(1):137-43. PubMed ID: 25042154
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  • 40. A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
    Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H.
    J Clin Endocrinol Metab; 1998 Oct 01; 83(10):3459-62. PubMed ID: 9768646
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