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Nature Medicine|June 13, 2006
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiencyAntonio M Almeida, Yoshiko Murakami, D Mark Layton, et al.
American Journal of Human Genetics|April 9, 2013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars Hansen, Hasan Tawamie, Yoshiko Murakami, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|August 7, 2025
Circulating Tumor DNA Longitudinal Analysis During Total Neoadjuvant Therapy and Non-operative Management for Locally Advanced Rectal Cancer: A Biomarker Study from the NOMINATE TrialTakashi Akiyoshi, Eiji Shinozaki, Yusuke Maeda, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 26, 2021
Hepatitis C virus modulates signal peptide peptidase to alter host protein processingJunki Hirano, Sachiyo Yoshio, Yusuke Sakai, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
BMJ Open|May 31, 2019
Comparison of olanexidine versus povidone-iodine for preventing surgical site infection in gastrointestinal surgery: study protocol for a multicentre, single-blind, randomised controlled clinical trialMasashi Takeuchi, Hideaki Obara, Hirofumi Kawakubo, et al.
Nature Communications|May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylationEric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
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