PMC Articles for MedGen (Select 96022) - PMC

Select item 67455441.

Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report

Yöntem Yaman, Sultan Aydin Köker, Fahri Yüce Ayhan, Ferah Genel, Can Acıpayam, Yeşim Oymak, Ebru Tuğrul Sarıbeyoğlu, Canan Raziye Vergin

Cent Eur J Immunol. 2019; 44(2): 206–209. Published online 2019 Jul 30. doi: 10.5114/ceji.2019.87073

PMCID:: PMC6745544

Abstract Article PDF–378K

Select item 5088332.

Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium.

A Karsan, C J Cornejo, R K Winn, B R Schwartz, W Way, N Lannir, R Gershoni-Baruch, A Etzioni, H D Ochs, J M Harlan

J Clin Invest. 1998 Jun 1; 101(11): 2438–2445. doi: 10.1172/JCI905

PMCID:: PMC508833

Summary PDF–247K

Select item 54585433.

Biological functions of fucose in mammals

Michael Schneider, Esam Al-Shareffi, Robert S Haltiwanger

Glycobiology. 2017 Jul; 27(7): 601–618. Published online 2017 May 4. doi: 10.1093/glycob/cwx034

PMCID:: PMC5458543

Abstract Article PDF–1.4M

Select item 45393474.

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

Edith van de Vijver, Anne Maddalena, Özden Sanal, Steven M. Holland, Gulbu Uzel, Manisha Madkaikar, Martin de Boer, Karin van Leeuwen, M. Yavuz Köker, Nima Parvaneh, Alain Fischer, S.K. Alex Law, Nigel Klein, F. Ilhan Tezcan, Ekrem Unal, Turkan Patiroglu, Bernd Belohradsky, Klaus Schwartz, Raz Somech, Taco W. Kuijpers, Dirk Roos

Blood Cells Mol Dis. Author manuscript; available in PMC 2015 Aug 18.

Published in final edited form as: Blood Cells Mol Dis. 2012 Jan 15; 48(1): 53–61. Published online 2011 Nov 30. doi: 10.1016/j.bcmd.2011.10.004

PMCID:: PMC4539347

Abstract Article PDF–766K

Select item 40141905.

Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect

Andrew Dauber, Altan Ercan, Jack Lee, Philip James, Pieter P. Jacobs, David J. Ashline, Sophie R. Wang, Timothy Miller, Joel N. Hirschhorn, Peter A. Nigrovic, Robert Sackstein

Hum Mol Genet. 2014 Jun 1; 23(11): 2880–2887. Published online 2014 Jan 8. doi: 10.1093/hmg/ddu001

PMCID:: PMC4014190

Abstract Article PDF–623K

Select item 35646416.

Lessons from rare maladies: leukocyte adhesion deficiency syndromes

Estelle S. Harris, Andrew S. Weyrich, Guy A. Zimmerman

Curr Opin Hematol. Author manuscript; available in PMC 2013 Feb 5.

Published in final edited form as: Curr Opin Hematol. 2013 Jan; 20(1): 16–25. doi: 10.1097/MOH.0b013e32835a0091

PMCID:: PMC3564641

Abstract Article PDF–1.6M

Select item 34361517.

The Drosophila Neurally Altered Carbohydrate Mutant Has a Defective Golgi GDP-fucose Transporter

Christoph Geisler, Varshika Kotu, Mary Sharrow, Dubravko Rendić, Gerald Pöltl, Michael Tiemeyer, Iain B. H. Wilson, Donald L. Jarvis

J Biol Chem. 2012 Aug 24; 287(35): 29599–29609. Published online 2012 Jun 27. doi: 10.1074/jbc.M112.379313

PMCID:: PMC3436151

Abstract Article PDF–1.6M

Select item 29664278.

Neural and Synaptic Defects in slytherin, a Zebrafish Model for Human Congenital Disorders of Glycosylation

Yuanquan Song, Jason R. Willer, Paul C. Scherer, Jessica A. Panzer, Amy Kugath, Emmanuel Skordalakes, Ronald G. Gregg, Gregory B. Willer, Rita J. Balice-Gordon

PLoS One. 2010; 5(10): e13743. Published online 2010 Oct 29. doi: 10.1371/journal.pone.0013743

PMCID:: PMC2966427

Abstract Article PDF–4.3M

Select item 23268189.

Infection-stimulated infraosseus inflammation and bone destruction is increased in P-/E-selectin knockout mice

N KAWASHIMA, R NIEDERMAN, R O HYNES, M ULLMANN-CULLERE, P STASHENKO

Immunology. 1999 May; 97(1): 117–123. doi: 10.1046/j.1365-2567.1999.00754.x

PMCID:: PMC2326818

Abstract Article PDF–389K

Select item 221315710.

CD44 is a physiological E-selectin ligand on neutrophils

Yoshio Katayama, Andrés Hidalgo, Jungshan Chang, Anna Peired, Paul S. Frenette

J Exp Med. 2005 Apr 18; 201(8): 1183–1189. doi: 10.1084/jem.20042014

PMCID:: PMC2213157

Abstract Article PDF–698K

Select item 217402711.

Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus

Peter L. Smith, Jay T. Myers, Clare E. Rogers, Lan Zhou, Bronia Petryniak, Daniel J. Becker, Jonathon W. Homeister, John B. Lowe

J Cell Biol. 2002 Aug 19; 158(4): 801–815. doi: 10.1083/jcb.200203125

PMCID:: PMC2174027

Abstract Article PDF–740K

Select item 131790212.

Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc

Hiroyuki O. Ishikawa, Shunsuke Higashi, Tomonori Ayukawa, Takeshi Sasamura, Motoo Kitagawa, Kenichi Harigaya, Kazuhisa Aoki, Nobuhiro Ishida, Yutaka Sanai, Kenji Matsuno

Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51): 18532–18537. Published online 2005 Dec 12. doi: 10.1073/pnas.0504115102

PMCID:: PMC1317902

Abstract Article PDF–514K

Select item 822830713.

Fucosylated Proteome Profiling Identifies a Fucosylated, Non-Ribosomal, Stress-Responsive Species of Ribosomal Protein S3

Gregory Watson, Daniel Lester, Hui Ren, Connor M. Forsyth, Elliot Medina, David Gonzalez Perez, Lancia Darville, Jiqiang Yao, Vince Luca, John Koomen, Ling Cen, Eric Lau

Cells. 2021 Jun; 10(6): 1310. Published online 2021 May 25. doi: 10.3390/cells10061310

PMCID:: PMC8228307

Abstract Article PDF–4.3M

Select item 706343114.

Leukocyte adhesion defect: Where do we stand circa 2019?

Jhumki Das, Avinash Sharma, Ankur Jindal, Vaishali Aggarwal, Amit Rawat

Genes Dis. 2020 Mar; 7(1): 107–114. Published online 2019 Aug 7. doi: 10.1016/j.gendis.2019.07.012

PMCID:: PMC7063431

Abstract Article PDF–815K

Select item 359344315.

The congenital disorders of glycosylation: A multifaceted group of syndromes

Erik A. Eklund, Hudson H. Freeze

NeuroRx. 2006 Apr; 3(2): 254–263. Published online 2012 Sep 5. doi: 10.1016/j.nurx.2006.01.012

PMCID:: PMC3593443

Abstract Article PDF–1.6M

Select item 18600116.

Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2.

M L Phillips, B R Schwartz, A Etzioni, R Bayer, H D Ochs, J C Paulson, J M Harlan

J Clin Invest. 1995 Dec; 96(6): 2898–2906. doi: 10.1172/JCI118361

PMCID:: PMC186001

Summary Page Browse PDF–2.0M

Select item 825376617.

FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression

Kia Joo Puan, Boris San Luis, Nurhashikin Yusof, Dilip Kumar, Anand Kumar Andiappan, Wendy Lee, Samanta Cajic, Dragana Vuckovic, Jing De Chan, Tobias Döllner, Han Wei Hou, Yunxuan Jiang, Chao Tian, the 23andMe Research Team, Erdmann Rapp, Michael Poidinger, De Yun Wang, Nicole Soranzo, Bernett Lee, Olaf Rötzschke

Commun Biol. 2021; 4: 832. Published online 2021 Jul 2. doi: 10.1038/s42003-021-02295-8

PMCID:: PMC8253766

Abstract Article PDF–3.6M

Select item 318137718.

A Novel Type of Macrothrombocytopenia Associated with a Defect in α2,3-Sialylation

Claire Jones, Jonas Denecke, Ronald Sträter, Torsten Stölting, Yvonne Schunicht, Dagmar Zeuschner, Judith Klumperman, Dirk J. Lefeber, Oliver Spelten, Alexander Zarbock, Sørge Kelm, Karen Strenge, Stuart M. Haslam, Kerstin Lühn, Dorothea Stahl, Luca Gentile, Thomas Schreiter, Philip Hilgard, Annette G. Beck-Sickinger, Thorsten Marquardt, Martin K. Wild

Am J Pathol. 2011 Oct; 179(4): 1969–1977. doi: 10.1016/j.ajpath.2011.06.012

PMCID:: PMC3181377

Abstract Article PDF–2.0M

Select item 12977619.

Natural killer cells attack tumor cells expressing high levels of sialyl Lewis x oligosaccharides

Chikara Ohyama, Satoru Kanto, Kazunori Kato, Osamu Nakano, Yoichi Arai, Tetsuro Kato, Shihao Chen, Michiko N. Fukuda, Minoru Fukuda

Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21): 13789–13794. Published online 2002 Oct 7. doi: 10.1073/pnas.212456599

Correction in:: Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8): 4969.

PMCID:: PMC129776

Abstract Article PDF–459K

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