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PUM1 and PUM2 exhibit different modes of regulation for SIAH1 that involve cooperativity with NANOS paralogues.
Sajek M, Janecki DM, Smialek MJ, Ginter-Matuszewska B, Spik A, Oczkowski S, Ilaslan E, Kusz-Zamelczyk K, Kotecki M, Blazewicz J, Jaruzelska J. Sajek M, et al. Among authors: kusz zamelczyk k. Cell Mol Life Sci. 2019 Jan;76(1):147-161. doi: 10.1007/s00018-018-2926-5. Epub 2018 Sep 29. Cell Mol Life Sci. 2019. PMID: 30269240
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D. Bagheri-Fam S, et al. Among authors: kusz zamelczyk k. PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020. PLoS One. 2020. PMID: 31910233 Free PMC article.
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.
Ilaslan E, Calvel P, Nowak D, Szarras-Czapnik M, Slowikowska-Hilczer J, Spik A, Sararols P, Nef S, Jaruzelska J, Kusz-Zamelczyk K. Ilaslan E, et al. Among authors: kusz zamelczyk k. Sex Dev. 2018;12(4):191-195. doi: 10.1159/000489692. Epub 2018 Jun 8. Sex Dev. 2018. PMID: 29886504
Kinesin KIF18A is a novel PUM-regulated target promoting mitotic progression and survival of a human male germ cell line.
Smialek MJ, Kuczynska B, Ilaslan E, Janecki DM, Sajek MP, Kusz-Zamelczyk K, Jaruzelska J. Smialek MJ, et al. Among authors: kusz zamelczyk k. J Cell Sci. 2020 Apr 6;133(7):jcs240986. doi: 10.1242/jcs.240986. J Cell Sci. 2020. PMID: 32094263
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. Calvel P, et al. Among authors: kusz zamelczyk k. Sex Dev. 2015;9(5):289-95. doi: 10.1159/000441512. Epub 2015 Nov 7. Sex Dev. 2015. PMID: 26544196
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia.
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jędrzejczak P, Latos-Bieleńska A, Kotecki M, Pawelczyk L, Jaruzelska J. Kusz-Zamelczyk K, et al. J Med Genet. 2013 Mar;50(3):187-93. doi: 10.1136/jmedgenet-2012-101230. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315541
Human NANOS1 Represses Apoptosis by Downregulating Pro-Apoptotic Genes in the Male Germ Cell Line.
Janecki DM, Ilaslan E, Smialek MJ, Sajek MP, Kotecki M, Ginter-Matuszewska B, Krainski P, Jaruzelska J, Kusz-Zamelczyk K. Janecki DM, et al. Among authors: kusz zamelczyk k. Int J Mol Sci. 2020 Apr 24;21(8):3009. doi: 10.3390/ijms21083009. Int J Mol Sci. 2020. PMID: 32344590 Free PMC article.
Characterization of RNP Networks of PUM1 and PUM2 Post-Transcriptional Regulators in TCam-2 Cells, a Human Male Germ Cell Model.
Smialek MJ, Ilaslan E, Sajek MP, Swiercz A, Janecki DM, Kusz-Zamelczyk K, Wozniak T, Kotecki M, Handschuh L, Figlerowicz M, Jaruzelska J. Smialek MJ, et al. Among authors: kusz zamelczyk k. Cells. 2020 Apr 16;9(4):984. doi: 10.3390/cells9040984. Cells. 2020. PMID: 32316190 Free PMC article.
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