PubMed (cited) for id: 612792

Year	Number of Results
1989	1
1994	1
2000	3
2001	1
2004	2
2008	1
2009	1
2013	1
2014	1
2024	0

1

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

2

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

3

Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice.

Arikketh D, Nelson R, Vance JE. Arikketh D, et al. J Biol Chem. 2008 May 9;283(19):12888-97. doi: 10.1074/jbc.M800714200. Epub 2008 Mar 14. J Biol Chem. 2008. PMID: 18343815 Free article.

4

Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.

Wattanasirichaigoon D, Visudtibhan A, Jaovisidha S, Laothamatas J, Chunharas A. Wattanasirichaigoon D, et al. Clin Dysmorphol. 2004 Jul;13(3):137-142. doi: 10.1097/01.mcd.0000127468.11641.b7. Clin Dysmorphol. 2004. PMID: 15194948

5

Externalization of phosphatidylserine during apoptosis does not specifically require either isoform of phosphatidylserine synthase.

Grandmaison PA, Nanowski TS, Vance JE. Grandmaison PA, et al. Biochim Biophys Acta. 2004 Feb 27;1636(1):1-11. doi: 10.1016/j.bbalip.2003.11.004. Biochim Biophys Acta. 2004. PMID: 14984733

6

Structure and expression of the murine phosphatidylserine synthase-1 gene.

Sturbois-Balcerzak B, Stone SJ, Sreenivas A, Vance JE. Sturbois-Balcerzak B, et al. J Biol Chem. 2001 Mar 16;276(11):8205-12. doi: 10.1074/jbc.M009776200. Epub 2000 Nov 17. J Biol Chem. 2001. PMID: 11084049 Free article.

7

Phosphatidylserine synthase-1 and -2 are localized to mitochondria-associated membranes.

Stone SJ, Vance JE. Stone SJ, et al. J Biol Chem. 2000 Nov 3;275(44):34534-40. doi: 10.1074/jbc.M002865200. J Biol Chem. 2000. PMID: 10938271 Free article.

8

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

Saraiva JM. Saraiva JM. Am J Med Genet. 2000 Mar 20;91(3):198-200. doi: 10.1002/(sici)1096-8628(20000320)91:3<198::aid-ajmg8>3.0.co;2-4. Am J Med Genet. 2000. PMID: 10756342

9

Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.

Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S. Nomura N, et al. DNA Res. 1994;1(1):27-35. doi: 10.1093/dnares/1.1.27. DNA Res. 1994. PMID: 7584026 Free article.

10

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Van den Berghe H, Wisniewski L. Chrzanowska KH, et al. Am J Med Genet. 1989 Apr;32(4):470-4. doi: 10.1002/ajmg.1320320407. Am J Med Genet. 1989. PMID: 2773987

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