Citations for
1GDRM, PPP2R3C, SPGF36
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A.
Eur J Endocrinol. May 1;180(5):291-309. doi: 10.1530/EJE-19-0067 2019
2NKX2.1, PAX9, PPP2R3C
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
Villafuerte B, Natera-de-Benito D, González A, Mori MA, Palomares M, Nevado J, García-Miñaur S, Lapunzina P, González-Granado LI, Allende LM, Moreno JC.
Eur J Med Genet. Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22. 2018
3ABCB1, PPP2R3C
Protein phosphatase complex PP5/PPP2R3C dephosphorylates P-glycoprotein/ABCB1 and down-regulates the expression and function.
Katayama K, Yamaguchi M, Noguchi K, Sugimoto Y.
Cancer Lett. Apr 1;345(1):124-31. doi: 10.1016/j.canlet.2013.12.007. Epub 2013 Dec 11 2014
4PPP2R3C
Protein phosphatase subunit G5PR is needed for inhibition of B cell receptor-induced apoptosis.
Xing Y, Igarashi H, Wang X, Sakaguchi N.
J Exp Med 202(5):707-19. Epub 2005 Aug 29. 2005
5DEL14QP, EAPP, HPE8, NPAS3, PPP2R3C, SNX6
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW.
Genomics 85(5):608-21. 2005