PMC Links for OMIM (Select 172100) - PMC

Select item 48256771.

Hypomorphic, homozygous mutations in Phosphoglucomutase 3 impair immunity and increase serum IgE levels

Atfa Sassi, Sandra Lazaroski, Gang Wu, Stuart M. Haslam, Manfred Fliegauf, Fethi Mellouli, Turkan Patiroglu, Ekrem Unal, Mehmet Akif Ozdemir, Zineb Jouhadi, Khadija Khadir, Leila Ben-Khemis, Meriem Ben-Ali, Imen Ben-Mustapha, Lamia Borchani, Dietmar Pfeifer, Thilo Jakob, Monia Khemiri, A. Charlotta Asplund, Manuela O. Gustafsson, Karin E. Lundin, Elin Falk-Sörqvist, Lotte N. Moens, Hatice Eke Gungor, Karin R. Engelhardt, Magdalena Dziadzio, Hans Stauss, Bernhard Fleckenstein, Rebecca Meier, Khairunnadiya Prayitno, Andrea Maul-Pavicic, Sandra Schaffer, Mirzokhid Rakhmanov, Philipp Henneke, Helene Kraus, Hermann Eibel, Uwe Kölsch, Sellama Nadifi, Mats Nilsson, Mohamed Bejaoui, Alejandro A. Schäffer, C. I. Edvard Smith, Anne Dell, Mohamed-Ridha Barbouche, Bodo Grimbacher

J Allergy Clin Immunol. Author manuscript; available in PMC 2016 Apr 8.

Published in final edited form as: J Allergy Clin Immunol. 2014 May; 133(5): 1410–142013. Published online 2014 Apr 1. doi: 10.1016/j.jaci.2014.02.025

PMCID:: PMC4825677

Abstract Article PDF–996K

Select item 46959172.

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

Karin E. Lundin, Abdulrahman Hamasy, Paul Hoff Backe, Lotte N. Moens, Elin Falk-Sörqvist, Katja B. Elgstøen, Lars Mørkrid, Magnar Bjørås, Carl Granert, Anna-Carin Norlin, Mats Nilsson, Birger Christensson, Stephan Stenmark, C.I. Edvard Smith

Clin Immunol. 2015 Dec; 161(2): 366–372. doi: 10.1016/j.clim.2015.10.002

PMCID:: PMC4695917

Abstract Article

Select item 40855833.

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray-Pedersen, Paul H. Backe, Hanne S. Sorte, Lars Mørkrid, Niti Y. Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja B.P. Elgstøen, Magnar Bjørås, Marcin W. Wlodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo M. Raymond, Ghadir S. Sasa, Robert A. Krance, Caridad A. Martinez, Shirley M. Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv T. Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Baylor-Johns Hopkins Center for Mendelian Genomics, Eric A. Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson

Am J Hum Genet. 2014 Jul 3; 95(1): 96–107. doi: 10.1016/j.ajhg.2014.05.007

PMCID:: PMC4085583

Abstract Article PDF–1.0M

Select item 40169824.

Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen F. Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner

J Allergy Clin Immunol. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: J Allergy Clin Immunol. 2014 May; 133(5): 1400–1409.e5. Published online 2014 Feb 28. doi: 10.1016/j.jaci.2014.02.013

PMCID:: PMC4016982

Abstract Article PDF–1.7M

Select item 3881375.

Human Antigen and Enzyme Markers in Man-Chinese Hamster Somatic Cell Hybrids: Evidence for Synteny Between the HL-A, PGM₃, ME₁, and IPO-B Loci

H. Van Someren, A. Westerveld, A. Hagemeijer, J. R. Mees, P. Meera Khan, O. B. Zaalberg

Proc Natl Acad Sci U S A. 1974 Mar; 71(3): 962–965. doi: 10.1073/pnas.71.3.962

PMCID:: PMC388137

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