PubMed (GeneRIF) for id: 9791

Year	Number of Results
2009	1
2010	1
2013	1
2014	1
2016	2
2018	1
2019	1
2021	1
2023	1
2024	0

1

Disease-related PSS1 mutant impedes the formation and function of osteoclasts.

Sugahara S, Ishino Y, Sawada K, Iwata T, Shimanaka Y, Aoki J, Arai H, Kono N. Sugahara S, et al. J Lipid Res. 2023 Nov;64(11):100443. doi: 10.1016/j.jlr.2023.100443. Epub 2023 Sep 14. J Lipid Res. 2023. PMID: 37714410 Free PMC article.

2

Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane.

Miyata N, Kuge O. Miyata N, et al. Protein Sci. 2021 Nov;30(11):2346-2353. doi: 10.1002/pro.4182. Epub 2021 Sep 22. Protein Sci. 2021. PMID: 34516042 Free PMC article.

3

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Seda M, Peskett E, Demetriou C, Bryant D, Moore GE, Stanier P, Jenkins D. Seda M, et al. F1000Res. 2019 Mar 11;8:273. doi: 10.12688/f1000research.17314.1. eCollection 2019. F1000Res. 2019. PMID: 31231513 Free PMC article.

4

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.

5

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.

Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T. Sohn M, et al. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4314-9. doi: 10.1073/pnas.1525719113. Epub 2016 Apr 4. Proc Natl Acad Sci U S A. 2016. PMID: 27044099 Free PMC article.

6

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.

Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS, Kobeissy F, Boustany RM. Soueid J, et al. Sci Rep. 2016 Jan 8;6:19088. doi: 10.1038/srep19088. Sci Rep. 2016. PMID: 26742492 Free PMC article.

7

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535

8

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR. Rose JE, et al. Mol Med. 2010 Jul-Aug;16(7-8):247-53. doi: 10.2119/molmed.2009.00159. Epub 2010 Mar 17. Mol Med. 2010. PMID: 20379614 Free PMC article. Clinical Trial.

9

Purification and characterization of human phosphatidylserine synthases 1 and 2.

Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O. Tomohiro S, et al. Biochem J. 2009 Mar 1;418(2):421-9. doi: 10.1042/BJ20081597. Biochem J. 2009. PMID: 19014349

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