PMC Links for OMIM (Select 607733) - PMC

Select item 106296621.

Unannotated microprotein EMBOW regulates the interactome and chromatin and mitotic functions of WDR5

Yanran Chen, Haomiao Su, Jianing Zhao, Zhenkun Na, Kevin Jiang, Antonella Bacchiocchi, Ken H. Loh, Ruth Halaban, Zhentian Wang, Xiongwen Cao, Sarah A. Slavoff

Cell Rep. Author manuscript; available in PMC 2023 Nov 7.

Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113145. Published online 2023 Sep 19. doi: 10.1016/j.celrep.2023.113145

PMCID:: PMC10629662

Abstract Article PDF–2.8M

Select item 102660162.

Scribble scrambles parathyroid hormone receptor interactions to regulate phosphate and vitamin D homeostasis

Bryce Z. Stewart, Tatyana Mamonova, W. Bruce Sneddon, Airah Javorsky, Yanmei Yang, Bin Wang, Thomas D. Nolin, Patrick O. Humbert, Peter A. Friedman, Marc Kvansakul

Proc Natl Acad Sci U S A. 2023 Jun 6; 120(23): e2220851120. Published online 2023 May 30. doi: 10.1073/pnas.2220851120

PMCID:: PMC10266016

Abstract Article PDF–8.4M

Select item 57894063.

Iron modulation of erythropoiesis is associated with Scribble-mediated control of the erythropoietin receptor

Shadi Khalil, Lorrie Delehanty, Stephen Grado, Maja Holy, Zollie White, III, Katie Freeman, Ryo Kurita, Yukio Nakamura, Grant Bullock, Adam Goldfarb

J Exp Med. 2018 Feb 5; 215(2): 661–679. doi: 10.1084/jem.20170396

PMCID:: PMC5789406

Abstract Article PDF–3.0M

Select item 47721234.

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis

Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E Stevenson, Nicholas DE Greene, Andrew J Copp, Philip Stanier

Hum Mutat. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Hum Mutat. 2012 Feb; 33(2): 440–447. Published online 2011 Dec 20. doi: 10.1002/humu.21662

PMCID:: PMC4772123

Abstract Article PDF–1.4M

Select item 38241295.

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, Jacques S. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sebastien Jacquemont, Nicholas Katsanis

Am J Hum Genet. 2013 Nov 7; 93(5): 798–811. doi: 10.1016/j.ajhg.2013.09.010