PMC Links for OMIM (Select 613386) - PMC

Select item 59921341.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Ivan K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep H. Coban-Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah A. Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Undiagnosed Diseases Network members, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange

Am J Hum Genet. 2018 Jun 7; 102(6): 1126–1142. Published online 2018 May 24. doi: 10.1016/j.ajhg.2018.04.010

PMCID:: PMC5992134

Abstract Article PDF–2.9M

Select item 46399872.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh, Bernadette Marrero, Ebun Omoyinmi, Qing Zhou, Gina Montealegre, Angelique Biancotto, Adam Reinhardt, Adriana Almeida de Jesus, Martin Pelletier, Wanxia L. Tsai, Elaine F. Remmers, Lela Kardava, Suvimol Hill, Hanna Kim, Helen J. Lachmann, Andre Megarbane, Jae Jin Chae, Jilian Brady, Rhina D. Castillo, Diane Brown, Angel Vera Casano, Ling Gao, Dawn Chapelle, Yan Huang, Deborah Stone, Yongqing Chen, Franziska Sotzny, Chyi-Chia Richard Lee, Daniel L. Kastner, Antonio Torrelo, Abraham Zlotogorski, Susan Moir, Massimo Gadina, Phil McCoy, Robert Wesley, Kristina Rother, Peter W. Hildebrand, Paul Brogan, Elke Krüger, Ivona Aksentijevich, Raphaela Goldbach-Mansky

J Clin Invest. 2015 Nov 2; 125(11): 4196–4211. Published online 2015 Oct 20. doi: 10.1172/JCI81260

Correction in:: J Clin Invest. 2016 Feb 1; 126(2): 795.

PMCID:: PMC4639987

Abstract Article PDF–5.7M

Select item 28504383.

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, Anders Vahlquist, Niklas Dahl

Am J Hum Genet. 2010 Apr 9; 86(4): 596–603. doi: 10.1016/j.ajhg.2010.02.018

Correction in:: Am J Hum Genet. 2010 Apr 9; 86(4): 655.

PMCID:: PMC2850438

Abstract Article PDF–630K

Select item 22672434.

The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum

Benjamin Fricke, Sylvia Heink, Janos Steffen, Peter-Michael Kloetzel, Elke Krüger

EMBO Rep. 2007 Dec; 8(12): 1170–1175. Published online 2007 Oct 19. doi: 10.1038/sj.embor.7401091

PMCID:: PMC2267243

Abstract Article PDF–282K

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