PubMed (GeneRIF) for id: 204219

Year	Number of Results
2010	1
2013	2
2015	1
2016	1
2017	1
2020	2
2021	1
2022	1
2023	1
2024	0

1

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.

Jan H, Wasif N, Naqvi SK, Ullah I, Ahmad W. Jan H, et al. Congenit Anom (Kyoto). 2023 Jul;63(4):127-128. doi: 10.1111/cga.12518. Epub 2023 May 1. Congenit Anom (Kyoto). 2023. PMID: 37128664 No abstract available.

2

Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene.

Cai J, Liu Y, Li Q, Wen Z, Li Y, Chen X. Cai J, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 May 28;47(5):588-599. doi: 10.11817/j.issn.1672-7347.2022.210477. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35753729 Free PMC article. Chinese, English.

3

β-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model.

Takeda S, Terazawa S, Shimoda H, Imokawa G. Takeda S, et al. PLoS One. 2021 Mar 8;16(3):e0248150. doi: 10.1371/journal.pone.0248150. eCollection 2021. PLoS One. 2021. PMID: 33684145 Free PMC article.

4

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.

Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Muthusamy K, et al. Am J Med Genet A. 2020 Oct;182(10):2442-2449. doi: 10.1002/ajmg.a.61792. Epub 2020 Aug 20. Am J Med Genet A. 2020. PMID: 32815268

5

Activation of SIRT1 Enhances Epidermal Permeability Barrier Formation through Ceramide Synthase 2- and 3-Dependent Mechanisms.

Shin KO, Lim CJ, Park HY, Kim S, Kim B, Lee Y, Chung H, Jeong SK, Park K, Park K. Shin KO, et al. J Invest Dermatol. 2020 Jul;140(7):1435-1438.e5. doi: 10.1016/j.jid.2019.12.021. Epub 2020 Jan 17. J Invest Dermatol. 2020. PMID: 31958434 Free article. No abstract available.

6

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J. Youssefian L, et al. Eur J Hum Genet. 2017 Nov;25(11):1282-1285. doi: 10.1038/ejhg.2017.137. Epub 2017 Sep 6. Eur J Hum Genet. 2017. PMID: 28875980 Free PMC article.

7

Enzyme Activities of the Ceramide Synthases CERS2-6 Are Regulated by Phosphorylation in the C-terminal Region.

Sassa T, Hirayama T, Kihara A. Sassa T, et al. J Biol Chem. 2016 Apr 1;291(14):7477-87. doi: 10.1074/jbc.M115.695858. Epub 2016 Feb 17. J Biol Chem. 2016. PMID: 26887952 Free PMC article.

8

Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors.

Rabionet M, Bayerle A, Jennemann R, Heid H, Fuchser J, Marsching C, Porubsky S, Bolenz C, Guillou F, Gröne HJ, Gorgas K, Sandhoff R. Rabionet M, et al. Hum Mol Genet. 2015 Sep 1;24(17):4792-808. doi: 10.1093/hmg/ddv204. Epub 2015 Jun 4. Hum Mol Genet. 2015. PMID: 26045466

9

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Radner FP, et al. PLoS Genet. 2013 Jun;9(6):e1003536. doi: 10.1371/journal.pgen.1003536. Epub 2013 Jun 6. PLoS Genet. 2013. PMID: 23754960 Free PMC article.

10

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Eckl KM, et al. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2. J Invest Dermatol. 2013. PMID: 23549421 Free article.

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