PMC Links for GEO Profiles (Select 25719348) - PMC

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Items: 5

Select item 49358051.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk

Nat Commun. 2016; 7: 11920. Published online 2016 Jul 6. doi: 10.1038/ncomms11920

PMCID:: PMC4935805

Abstract Article PDF–1.9M

Select item 31780592.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 27797613.

Evolutionary conservation and adaptation in the mechanism that regulates SREBP action: what a long, strange tRIP it's been

Timothy F. Osborne, Peter J. Espenshade

Genes Dev. 2009 Nov 15; 23(22): 2578–2591. doi: 10.1101/gad.1854309

PMCID:: PMC2779761

Abstract Article PDF–347K

Select item 26679924.

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño, Christian Weirich, Karl-Heinz Grzeschik

Am J Hum Genet. 2009 Apr 10; 84(4): 459–467. doi: 10.1016/j.ajhg.2009.03.014