Literature DB >> 28063873

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Ryan J Carlson1, Michelle R Bond2, Shermaine Hutchins1, Yishai Brown1, Lynne A Wolfe3, Christina Lam4, Celeste Nelson1, Thomas DiMaggio1, Nina Jones5, Sergio D Rosenzweig6, Kelly D Stone1, Alexandra F Freeman7, Steven M Holland7, John A Hanover2, Joshua D Milner1, Jonathan J Lyons8.   

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Year:  2017        PMID: 28063873      PMCID: PMC5496781          DOI: 10.1016/j.jaci.2016.12.951

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN: 0091-6749            Impact factor:   10.793


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  8 in total

1.  Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.

Authors:  Jens Magnus Bernth-Jensen; Mette Holm; Mette Christiansen
Journal:  J Allergy Clin Immunol       Date:  2015-09-26       Impact factor: 10.793

2.  Negative regulation of T-cell activation and autoimmunity by Mgat5 N-glycosylation.

Authors:  M Demetriou; M Granovsky; S Quaggin; J W Dennis
Journal:  Nature       Date:  2001-02-08       Impact factor: 49.962

3.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  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
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

4.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Authors:  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; Eric A Boerwinkle; Richard A Gibbs; James R Lupski; Jordan S Orange; Ekkehart Lausch; I Celine Hanson
Journal:  Am J Hum Genet       Date:  2014-06-12       Impact factor: 11.025

5.  Characterization of the structural determinants required for the high affinity interaction of asparagine-linked oligosaccharides with immobilized Phaseolus vulgaris leukoagglutinating and erythroagglutinating lectins.

Authors:  R D Cummings; S Kornfeld
Journal:  J Biol Chem       Date:  1982-10-10       Impact factor: 5.157

6.  Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Authors:  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
Journal:  J Allergy Clin Immunol       Date:  2014-04-01       Impact factor: 10.793

7.  Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation.

Authors:  Ken S Lau; Emily A Partridge; Ani Grigorian; Cristina I Silvescu; Vernon N Reinhold; Michael Demetriou; James W Dennis
Journal:  Cell       Date:  2007-04-06       Impact factor: 41.582

8.  Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development.

Authors:  Kylie T Greig; Jennifer Antonchuk; Donald Metcalf; Phillip O Morgan; Danielle L Krebs; Jian-Guo Zhang; Douglas F Hacking; Lars Bode; Lorraine Robb; Christian Kranz; Carolyn de Graaf; Melanie Bahlo; Nicos A Nicola; Stephen L Nutt; Hudson H Freeze; Warren S Alexander; Douglas J Hilton; Benjamin T Kile
Journal:  Mol Cell Biol       Date:  2007-06-04       Impact factor: 4.272

  8 in total
  2 in total

1.  Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.

Authors:  Sheri A Poskanzer; Matthew J Schultz; Coleman T Turgeon; Noemi Vidal-Folch; Kris Liedtke; Devin Oglesbee; Dimitar K Gavrilov; Silvia Tortorelli; Dietrich Matern; Piero Rinaldo; James T Bennett; Jenny M Thies; Irene J Chang; Anita E Beck; Kimiyo Raymond; Eric J Allenspach; Christina Lam
Journal:  Am J Med Genet A       Date:  2020-10-12       Impact factor: 2.802

Review 2.  Primary atopic disorders.

Authors:  Jonathan J Lyons; Joshua D Milner
Journal:  J Exp Med       Date:  2018-03-16       Impact factor: 14.307

  2 in total

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