PMC Links for Nucleotide (Select 1519244523) - PMC

Select item 54773611.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, The DDD Study, Taroh Kinoshita, Jenny C Taylor, Usha Kini

Eur J Hum Genet. 2017 Jun; 25(6): 669–679. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.32

PMCID:: PMC5477361

Abstract Article PDF–2.2M

Select item 1491532.

PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8

Kazuhito Ohishi, Norimitsu Inoue, Taroh Kinoshita

EMBO J. 2001 Aug 1; 20(15): 4088–4098. doi: 10.1093/emboj/20.15.4088

PMCID:: PMC149153

Abstract Article PDF–672K

Select item 68772983.

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation

Britta Höchsmann, Yoshiko Murakami, Makiko Osato, Alexej Knaus, Michi Kawamoto, Norimitsu Inoue, Tetsuya Hirata, Shogo Murata, Markus Anliker, Thomas Eggermann, Marten Jäger, Ricarda Floettmann, Alexander Höllein, Sho Murase, Yasutaka Ueda, Jun-ichi Nishimura, Yuzuru Kanakura, Nobuo Kohara, Hubert Schrezenmeier, Peter M. Krawitz, Taroh Kinoshita

J Clin Invest. 2019 Dec 2; 129(12): 5123–5136. Published online 2019 Oct 22. doi: 10.1172/JCI123501

PMCID:: PMC6877298

Abstract Article PDF–5.2M

Select item 40067284.

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra

PLoS Genet. 2014 May; 10(5): e1004320. Published online 2014 May 1. doi: 10.1371/journal.pgen.1004320

PMCID:: PMC4006728

Abstract Article PDF–1.9M

Select item 39722975.

Effects of Equol on Gene Expression in Female Cynomolgus Monkey Iliac Arteries

K Eyster, S. Appt, A. Chalpe, T. Register, T. Clarkson

Nutr Metab Cardiovasc Dis. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Nutr Metab Cardiovasc Dis. 2014 Apr; 24(4): 423–427. Published online 2013 Nov 1. doi: 10.1016/j.numecd.2013.09.014

PMCID:: PMC3972297

Abstract Article PDF–212K

Select item 34341176.

A framework to identify gene expression profiles in a model of inflammation induced by lipopolysaccharide after treatment with thalidomide

Renata T Paiva, Alessandra M Saliba, Tatiana O Fulco, Jorgenilce de Souza Sales, Daniel Serra de Carvalho, Elizabeth P Sampaio, Ulisses G Lopes, Euzenir N Sarno, Flavio F Nobre

BMC Res Notes. 2012; 5: 292. Published online 2012 Jun 13. doi: 10.1186/1756-0500-5-292

PMCID:: PMC3434117

Abstract Article PDF–715K

Select item 34081907.

Proteomic Identification of Glycosylphosphatidylinositol Anchor-dependent Membrane Proteins Elevated in Breast Carcinoma

Peng Zhao, Alison V. Nairn, Shanterian Hester, Kelley W. Moremen, Ruth M. O'Regan, Gabriella Oprea, Lance Wells, Michael Pierce, Karen L. Abbott

J Biol Chem. 2012 Jul 20; 287(30): 25230–25240. Published online 2012 May 31. doi: 10.1074/jbc.M112.339465

PMCID:: PMC3408190

Abstract Article PDF–3.4M

Select item 30838648.

Alternatively Spliced Genes as Biomarkers for Schizophrenia, Bipolar Disorder and Psychosis: A Blood-Based Spliceome-Profiling Exploratory Study

S.J. Glatt, S.D. Chandler, C.A. Bousman, G. Chana, G.R. Lucero, E. Tatro, T. May, J.B. Lohr, W.S. Kremen, I.P. Everall, M.T. Tsuang

Curr Pharmacogenomics Person Med. Author manuscript; available in PMC 2011 Apr 28.

Published in final edited form as: Curr Pharmacogenomics Person Med. 2009 Sep; 7(3): 164–188. doi: 10.2174/1875692110907030164

PMCID:: PMC3083864

Abstract Article PDF–514K

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