Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 1
2021 11
2022 13
2023 9
2024 8
2025 16
2026 5

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

56 results

Results by year

Filters applied: . Clear all
Page 1
TIM-3+ CD8 T cells with a terminally exhausted phenotype retain functional capacity in hematological malignancies.
Minnie SA, Waltner OG, Zhang P, Takahashi S, Nemychenkov NS, Ensbey KS, Schmidt CR, Legg SRW, Comstock M, Boiko JR, Nelson E, Bhise SS, Wilkens AB, Koyama M, Dhodapkar MV, Chesi M, Riddell SR, Green DJ, Spencer A, Furlan SN, Hill GR. Minnie SA, et al. Sci Immunol. 2024 Apr 19;9(94):eadg1094. doi: 10.1126/sciimmunol.adg1094. Epub 2024 Apr 19. Sci Immunol. 2024. PMID: 38640253 Free PMC article.
IFN-gamma(+) T(PHEX) effectively killed myeloma with comparable efficacy to transitory effectors, and disease progression correlated with numerical deficits in IFN-gamma(+) T(PHEX). ...An IFN-gamma(+) T(PHEX) gene signature was recapitulated in T(EX) cells fr …
IFN-gamma(+) T(PHEX) effectively killed myeloma with comparable efficacy to transitory effectors, and disease progression correlated …
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V. Arenas MA, et al. J Pediatr Endocrinol Metab. 2021 Jun 21;34(9):1105-1113. doi: 10.1515/jpem-2021-0042. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34147045
BACKGROUND: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatme …
BACKGROUND: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe t …
Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
Wu H, Ying H, Zhao W, Sun Y, Wang Y, Chen X, Li G, Yao Y, Xu S, Li T, Fang L, Sun X, Wang N, Xu J, Guan Q, Xia W, Wang L, Gao L, Zhao J, Xu C. Wu H, et al. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2242-2255. doi: 10.1210/clinem/dgae120. J Clin Endocrinol Metab. 2024. PMID: 38442738 Free PMC article.
BACKGROUND: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. ...However, when we analyzed the relationship between PHEX …
BACKGROUND: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by pho …
Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.
Eltan M, Alavanda C, Yavas Abali Z, Gurpinar Tosun B, Kurt I, Kirkgoz T, Guven S, Kaygusuz SB, Abali S, Helvacioglu D, Guran T, Gokce I, Arman A, Bereket A, Ata P, Turan S. Eltan M, et al. J Clin Endocrinol Metab. 2025 Aug 7;110(9):e3021-e3030. doi: 10.1210/clinem/dgae868. J Clin Endocrinol Metab. 2025. PMID: 39700445 Free article.
If sequencing showed no alterations, multiplex ligation-dependent probe amplification (MLPA) analysis for PHEX was conducted. Initially, a specific gene panel was performed for FGF23-independent HH or those in whom the PHEX gene showed no genetic alteration. RESULTS …
If sequencing showed no alterations, multiplex ligation-dependent probe amplification (MLPA) analysis for PHEX was conducted. Initial …
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P, Bhavani GS, Udupa P, Wang Z, Hariharan SV, Delampady K, Dalal A, Kamath N, Ikegawa S, Shenoy RD, Handattu K, Shah H, Girisha KM. Jacob P, et al. Indian J Pediatr. 2023 Dec;90(12):1182-1190. doi: 10.1007/s12098-022-04393-9. Epub 2023 Jan 24. Indian J Pediatr. 2023. PMID: 36692815 Free PMC article.
(Phe443Profs*24), VDR:c.1171C>T, p.(Arg391Cys), PHEX: c.1586_1586+1del, PHEX: c.1482+5G>C, PHEX: c.58C>T, p.(Arg20*)) and six novel variants (CYP27B1:c.974C>T, p....(Val197Leu)) in the genes known to cause monogenic rickets were identified. …
(Phe443Profs*24), VDR:c.1171C>T, p.(Arg391Cys), PHEX: c.1586_1586+1del, PHEX: c.1482+5G>C, PHEX: c.58C>T, p.(A …
A novel phex gene variant causes non-syndromic tooth agenesis.
Pan Y, Hua B, Wang H, Tan S, Lu T, Xiong F, Ma D. Pan Y, et al. BMC Oral Health. 2025 Sep 26;25(1):1452. doi: 10.1186/s12903-025-06827-0. BMC Oral Health. 2025. PMID: 41013490 Free PMC article.
OBJECTIVES: For a long time, phosphate regulating endopeptidase X-linked (phex) gene variants have been considered the primary cause of hypophosphatemic rickets. ...The phex knockdown zebrafish displayed a tooth loss phenotype, which closely aligns with chara …
OBJECTIVES: For a long time, phosphate regulating endopeptidase X-linked (phex) gene variants have been considered the primary cause …
Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia.
Ma X, Pang Q, Gong Y, Li X, Liu W, Jiang Y, Wang O, Li M, Xing X, Xia W. Ma X, et al. J Clin Endocrinol Metab. 2024 Nov 18;109(12):3176-3185. doi: 10.1210/clinem/dgae299. J Clin Endocrinol Metab. 2024. PMID: 38722819 Free article.
CONTEXT: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease caused by inactivation mutations in the PHEX gene. Despite the extensive number of reported PHEX variants, only a few cases of chromosomal abnormalities have been documented. ...CONCLUSION: Ou …
CONTEXT: X-linked hypophosphatemia (XLH) is a rare metabolic bone disease caused by inactivation mutations in the PHEX gene. Despite …
Genome-Wide Differential Airway Gene Expression Analysis Identifies Genes Associated with COPD Comorbidities.
Faiz A, Ter Haar EAMD, Hartman JE, Brandsma CA, Timens W, Burgess JK, Choy DF, Grimbaldeston MA, Vanfleteren LEGW, Slebos DJ, van den Berge M, Pouwels SD. Faiz A, et al. Lung. 2025 Apr 26;203(1):58. doi: 10.1007/s00408-025-00814-6. Lung. 2025. PMID: 40287517 Free PMC article.
COPD patients with osteoporosis displayed higher expression of COL6A3 and lower expression of PHEX. Furthermore, COPD patients with hypercholesterolemia displayed a distinct bronchial epithelial gene expression profile, with 162 differentially expressed genes. ...
COPD patients with osteoporosis displayed higher expression of COL6A3 and lower expression of PHEX. Furthermore, COPD patients with h …
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Gan YM, Zhang YP, Ruan DD, Huang JB, Zhu YB, Lin XF, Xiao XP, Cheng Q, Geng ZB, Liao LS, Tang FQ, Luo JW. Gan YM, et al. Cell Death Dis. 2022 Jun 2;13(6):518. doi: 10.1038/s41419-022-04969-5. Cell Death Dis. 2022. PMID: 35654784 Free PMC article.
X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration caused by PHEX (NM_000444.5) mutations. Renal tubular resorption of phosphate is impaired, resulting in rickets and impaired bo …
X-linked hypophosphatemic rickets (XLH) is characterized by increased circulating fibroblast growth factor 23 (FGF23) concentration c …
Differing responses of osteogenic cell lines to β-glycerophosphate.
Yevlashevskaya OS, Scheven BA, Walmsley AD, Shelton RM. Yevlashevskaya OS, et al. Sci Rep. 2023 Sep 2;13(1):14472. doi: 10.1038/s41598-023-40835-w. Sci Rep. 2023. PMID: 37660110 Free PMC article.
Additionally, gene expression of runt-related transcription factor 2 (RUNX2); osteocalcin (OCN); alkaline phosphatase (ALP); phosphate regulating endopeptidase homolog X-linked (PHEX); marker of proliferation MKI67 and proliferating cell nuclear antigen (PCNA) was performe …
Additionally, gene expression of runt-related transcription factor 2 (RUNX2); osteocalcin (OCN); alkaline phosphatase (ALP); phosphate regul …
56 results