PubMed for id: 2232

Year	Number of Results
1988	2
1989	2
1990	2
1991	2
1994	1
2000	2
2001	2
2002	3
2003	3
2004	2
2005	1
2006	1
2008	1
2009	1
2010	1
2011	2
2012	1
2013	1
2014	1
2015	5
2016	2
2017	6
2018	3
2019	3
2020	8
2021	10
2022	8
2023	8
2024	0

1

FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.

Wei X, Li H, Zhu T, Yao F, Sui R. Wei X, et al. Exp Eye Res. 2023 Sep;234:109600. doi: 10.1016/j.exer.2023.109600. Epub 2023 Jul 20. Exp Eye Res. 2023. PMID: 37481223

2

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.

Yi S, Zheng Y, Yi Z, Wang Y, Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Wang P, Zhang Q. Yi S, et al. Genes (Basel). 2023 Apr 21;14(4):952. doi: 10.3390/genes14040952. Genes (Basel). 2023. PMID: 37107710 Free PMC article.

3

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.

Masnada S, Previtali R, Erba P, Beretta E, Camporesi A, Chiapparini L, Doneda C, Iascone M, Sartorio MUA, Spaccini L, Veggiotti P, Osio M, Tonduti D, Moroni I. Masnada S, et al. Neurol Sci. 2023 Sep;44(9):3037-3043. doi: 10.1007/s10072-023-06790-0. Epub 2023 Apr 12. Neurol Sci. 2023. PMID: 37046037 Free PMC article. Review.

4

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.

5

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R, Claeys KG, Ciara E, Eisen J, Płoski R, Pronicka E, Malczyk K, Wagner M, Wortmann SB, Prokisch H. Stenton SL, et al. Hum Mutat. 2021 Mar;42(3):310-319. doi: 10.1002/humu.24160. Epub 2021 Jan 3. Hum Mutat. 2021. PMID: 33348459

6

In Vivo Validation of Alternative FDXR Transcripts in Human Blood in Response to Ionizing Radiation.

Cruz-Garcia L, O'Brien G, Sipos B, Mayes S, Tichý A, Sirák I, Davídková M, Marková M, Turner DJ, Badie C. Cruz-Garcia L, et al. Int J Mol Sci. 2020 Oct 23;21(21):7851. doi: 10.3390/ijms21217851. Int J Mol Sci. 2020. PMID: 33113898 Free PMC article.

7

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S. Paul A, et al. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965846 Free PMC article.

8

Human skin is a steroidogenic tissue: steroidogenic enzymes and cofactors are expressed in epidermis, normal sebocytes, and an immortalized sebocyte cell line (SEB-1).

Thiboutot D, Jabara S, McAllister JM, Sivarajah A, Gilliland K, Cong Z, Clawson G. Thiboutot D, et al. J Invest Dermatol. 2003 Jun;120(6):905-14. doi: 10.1046/j.1523-1747.2003.12244.x. J Invest Dermatol. 2003. PMID: 12787114 Free article.

9

The ferredoxin reductase gene is regulated by the p53 family and sensitizes cells to oxidative stress-induced apoptosis.

Liu G, Chen X. Liu G, et al. Oncogene. 2002 Oct 17;21(47):7195-204. doi: 10.1038/sj.onc.1205862. Oncogene. 2002. PMID: 12370809

10

Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues.

Solish SB, Picado-Leonard J, Morel Y, Kuhn RW, Mohandas TK, Hanukoglu I, Miller WL. Solish SB, et al. Proc Natl Acad Sci U S A. 1988 Oct;85(19):7104-8. doi: 10.1073/pnas.85.19.7104. Proc Natl Acad Sci U S A. 1988. PMID: 2845396 Free PMC article.

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