| Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients. | Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.
Su PH, Yu JS, Wu YZ, Tsai YS, Lo FS, Lin JL, Chao MC, Hsu CC, Ke YY, Chiu PC, Chen JC, Huang YH, Lin SP, Chou YY, Ting WH, Wang SY, Chiu CF, Huang YC, Hsiao HP, Lin CH, Wang CH, Bau DT, Lin CY., Free PMC Article | 01/4/2024 |
| Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling. | Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.
Yadav PS, Kobelski MM, Martins JS, Tao T, Liu ES, Demay MB., | 01/3/2024 |
| Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. | Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng C, Lin Y, Luo X., Free PMC Article | 09/15/2023 |
| X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. | X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.
Soto Barros J, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, Genetti CA, Brownstein CA, Carpenter TO., | 05/22/2023 |
| Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report. | Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.
Aiello F, Pasquali D, Baronio F, Cassio A, Rossi C, Di Fraia R, Carotenuto R, Digitale L, Festa A, Luongo C, Maltoni G, Schiano di Cola R, Del Giudice EM, Grandone A. | 01/14/2023 |
| Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets. | Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
Tavana N, Ting TH, Lai K, Kennerson ML, Thilakavathy K., Free PMC Article | 12/31/2022 |
| A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia. | A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
Alhamoudi KM, Alghamdi B, Alswailem M, Nasir A, Aljomaiah A, Al-Hindi H, Alzahrani AS. | 10/8/2022 |
| Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). | Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y., Free PMC Article | 05/7/2022 |
| Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation. | Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation.
Alikasifoglu A, Unsal Y, Gonc EN, Ozon ZA, Kandemir N, Alikasifoglu M. | 03/12/2022 |
| Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia. | Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia.
Fuente R, García-Bengoa M, Fernández-Iglesias Á, Gil-Peña H, Santos F, López JM., Free PMC Article | 02/5/2022 |
| Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia. | Adult rheumatologic features, treatment and complications of X-linked hypophosphatemia.
Salcion A, Herrou J, Briot K. | 12/4/2021 |
| Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling. | Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.
Ishihara Y, Ohata Y, Takeyari S, Kitaoka T, Fujiwara M, Nakano Y, Yamamoto K, Yamada C, Yamamoto K, Michigami T, Mabe H, Yamaguchi T, Matsui K, Tamada I, Namba N, Yamamoto A, Etoh J, Kawaguchi A, Kosugi R, Ozono K, Kubota T. | 10/30/2021 |
| Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation. | Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B, Wang C, Chen Q, Che R, Sha Y, Zhao F, Ding G, Zhou W, Jia Z, Huang S, Chen Y, Zhang A. | 09/25/2021 |
| X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study). | X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).
Smith PS, Gottesman GS, Zhang F, Cook F, Ramirez B, Wenkert D, Wollberg V, Huskey M, Mumm S, Whyte MP. | 09/18/2021 |
| Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia. | Novel variants and uncommon cases among southern Chinese children with X-linked hypophosphatemia.
Lin Y, Xu J, Li X, Sheng H, Su L, Wu M, Cheng J, Huang Y, Mao X, Zhou Z, Zhang W, Li C, Cai Y, Wu D, Lu Z, Yin X, Zeng C, Liu L. | 07/24/2021 |
| A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family. | 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., Free PMC Article | 05/15/2021 |
| Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. | Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.
Baroncelli GI, Zampollo E, Manca M, Toschi B, Bertelloni S, Michelucci A, Isola A, Bulleri A, Peroni D, Giuca MR. | 04/13/2021 |
| Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation. | Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
Zhao Y, Yang F, Wang L, Che H. | 11/28/2020 |
| Mosaicism in 2 cases of X-linked hypophosphatemia.", trans "Mosaicismo en 2 casos de hipofosfatemia ligada al cromosoma X. | Mosaicism in 2 cases of X-linked hypophosphatemia.
Broseta JJ, López-Romero LC, Cerón JA, Mendizábal S, Hernández-Jaras J. | 10/31/2020 |
| Results provide genetic and molecular evidence that the p.Trp403* nonsense variant in PHEX causes X-linked hypophosphatemia (XLH). Moreover, a novel molecular signaling pathway was identified for the pathogenesis of XLH, which consists of a PHEX mutation, upregulation of FGF23, and inhibition of p38 MAPK activation. | Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling.
Li W, Tan L, Li X, Zhang X, Wu X, Chen H, Hu L, Wang X, Luo X, Wang F, Xu C, Chen Q, Jin R, Wang QK. | 03/21/2020 |
| X-linked hypophosphatemia (XLH) is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. | Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.
Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E., Free PMC Article | 11/9/2019 |
| PHEX mutation is associated with hypophosphatemic rickets. | Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets.
Jin P, Wang LH, Mo ZH. | 07/13/2019 |
| Hypophosphatemia alone does not fully explain the pathologic phenotype observed in XLH. Loss of PHEX independently and locally affects ECM mineral formation and quality, likely through the accumulation and impaired degradation of OPN and possibly through changes in DMP1 and MEPE cleavage. | Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures.
Coyac BR, Hoac B, Chafey P, Falgayrac G, Slimani L, Rowe PS, Penel G, Linglart A, McKee MD, Chaussain C, Bardet C., Free PMC Article | 04/6/2019 |
| PARP1 enzymatic activity did not significantly reverse the effect of TNF on the human PHEX gene expression. | Significance of NF-kappaB signaling and PARP1 activity in the TNF-induced inhibition of PHEX gene expression in human osteoblasts.
Kędzierska U, Banasiak Ł, Kiela P, Majewski PM. | 03/30/2019 |
| PHEX gene mutations are associated with hypophosphatemic rickets in the Chinese family. | [Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].
Zhang S, Zhang Q, Cheng L, Huang X, Peng Y, Liang Z, Guo H, Pan Q. | 03/30/2019 |