PubMed for id: 1594

Year	Number of Results
1990	2
1991	1
1997	6
1998	2
1999	4
2002	10
2003	4
2004	6
2005	6
2006	6
2007	16
2008	8
2009	22
2010	21
2011	10
2012	14
2013	14
2014	13
2015	12
2016	15
2017	13
2018	8
2019	11
2020	17
2021	9
2022	4
2023	3
2024	0

1

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Aftab S, Khan SA, Malik MI, Imran A, Anjum MN, Saeed A, Qureshi AA, Cheema HA. Aftab S, et al. J Pediatr Endocrinol Metab. 2022 Dec 19;36(2):152-157. doi: 10.1515/jpem-2022-0550. Print 2023 Feb 23. J Pediatr Endocrinol Metab. 2022. PMID: 36524979

2

The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus.

Luo M, Lıu J, Yuan Y, Chen Y, Yuan G. Luo M, et al. Turk J Med Sci. 2022 Aug;52(4):984-989. doi: 10.55730/1300-0144.53899. Epub 2022 Aug 10. Turk J Med Sci. 2022. PMID: 36326421 Free PMC article.

3

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A. Méaux MN, et al. J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. J Clin Endocrinol Metab. 2023. PMID: 36321535

4

Astrocytes expressing Vitamin D-activating enzyme identify Parkinson's disease.

Mazzetti S, Barichella M, Giampietro F, Giana A, Calogero AM, Amadeo A, Palazzi N, Comincini A, Giaccone G, Bramerio M, Caronni S, Cereda V, Cereda E, Cappelletti G, Rolando C, Pezzoli G. Mazzetti S, et al. CNS Neurosci Ther. 2022 May;28(5):703-713. doi: 10.1111/cns.13801. Epub 2022 Feb 15. CNS Neurosci Ther. 2022. PMID: 35166042 Free PMC article.

5

Chemical Synthesis of Side-Chain-Hydroxylated Vitamin D₃ Derivatives and Their Metabolism by CYP27B1.

Sakamoto R, Nagata A, Ohshita H, Mizumoto Y, Iwaki M, Yasuda K, Sakaki T, Nagasawa K. Sakamoto R, et al. Chembiochem. 2021 Oct 1;22(19):2896-2900. doi: 10.1002/cbic.202100250. Epub 2021 Jul 24. Chembiochem. 2021. PMID: 34250710

6

The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.

Ozden A, Doneray H. Ozden A, et al. J Pediatr Endocrinol Metab. 2021 Apr 7;34(6):781-789. doi: 10.1515/jpem-2020-0691. Print 2021 Jun 25. J Pediatr Endocrinol Metab. 2021. PMID: 33823104

7

Vitamin D status and CYP27B1-1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.

Fakhfakh R, Feki S, Elleuch A, Neifar M, Marzouk S, Elloumi N, Hachicha H, Abida O, Bahloul Z, Ayadi F, Masmoudi H. Fakhfakh R, et al. Mol Genet Genomic Med. 2021 Mar;9(3):e1618. doi: 10.1002/mgg3.1618. Epub 2021 Feb 17. Mol Genet Genomic Med. 2021. PMID: 33594806 Free PMC article.

8

Brief Report: CYP27B1 rs10877012 T Allele Was Linked to Non-AIDS Progression in ART-Naïve HIV-Infected Patients: A Retrospective Study.

Jiménez-Sousa MA, Jiménez JL, Bellón JM, Fernández-Rodríguez A, Iribarren JA, López-Cortés LF, Olalla-Sierra J, Martín-Rodrigo MD, Muñoz-Fernández MÁ, Resino S. Jiménez-Sousa MA, et al. J Acquir Immune Defic Syndr. 2020 Dec 15;85(5):659-664. doi: 10.1097/QAI.0000000000002485. J Acquir Immune Defic Syndr. 2020. PMID: 32932410

9

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.

Dhull RS, Jain R, Deepthi B, Cheong HI, Saha A, Mehndiratta M, Basu S. Dhull RS, et al. J Bras Nefrol. 2020 Oct-Dec;42(4):494-497. doi: 10.1590/2175-8239-JBN-2020-0001. J Bras Nefrol. 2020. PMID: 32926064 Free PMC article. Review.

10

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer.

Latacz M, Snarska J, Kostyra E, Wroński K, Fiedorowicz E, Savelkoul H, Jarmołowska B, Płomiński J, Grzybowski R, Cieślińska A. Latacz M, et al. Nutrients. 2020 Apr 3;12(4):998. doi: 10.3390/nu12040998. Nutrients. 2020. PMID: 32260235 Free PMC article.

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