PMC Articles for MedGen (Select 383872) - PMC

Select item 57712261.

Development of a multilocus sequence typing tool for high-resolution subtyping and genetic structure characterization of Cryptosporidium ubiquitum

Ying Tang, Na Li, Mingxin Song, Dawn M. Roellig, Yaoyu Feng, Lihua Xiao

Infect Genet Evol. Author manuscript; available in PMC 2018 Jan 17.

Published in final edited form as: Infect Genet Evol. 2016 Nov; 45: 256–261. Published online 2016 Sep 12. doi: 10.1016/j.meegid.2016.09.011

PMCID:: PMC5771226

Abstract Article PDF–964K

Select item 38064862.

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2

Aleixo M Muise, Wei Xu, Cong-Hui Guo, Thomas D Walters, Victorien M Wolters, Ramzi Fattouh, Grace Y Lam, Pingzhao Hu, Ryan Murchie, Mary Sherlock, Juan Cristóbal Gana, NEOPICS, Richard K Russell, Michael Glogauer, Richard H Duerr, Judy H Cho, Charlie W Lees, Jack Satsangi, David C Wilson, Andrew D Paterson, Anne M Griffiths, Mark S Silverberg, John H Brumell

Gut. Author manuscript; available in PMC 2013 Oct 23.

Published in final edited form as: Gut. 2012 Jul; 61(7): 1028–1035. Published online 2011 Sep 7. doi: 10.1136/gutjnl-2011-300078

Correction in:: Gut, volume 62 on page 1432

PMCID:: PMC3806486

Abstract Article PDF–635K

Select item 2805393.

Recombinant human interferon-gamma reconstitutes defective phagocyte function in patients with chronic granulomatous disease of childhood.

J M Sechler, H L Malech, C J White, J I Gallin

Proc Natl Acad Sci U S A. 1988 Jul; 85(13): 4874–4878. doi: 10.1073/pnas.85.13.4874

PMCID:: PMC280539

Summary Page Browse PDF–1.0M

Select item 3038124.

Functional defect in neutrophil cytosols from two patients with autosomal recessive cytochrome-positive chronic granulomatous disease.

J T Curnutte, P J Scott, B M Babior

J Clin Invest. 1989 Apr; 83(4): 1236–1240. doi: 10.1172/JCI114006

PMCID:: PMC303812

Summary Page Browse PDF–1.0M

Select item 14357915.

A Novel Bacterium Associated with Lymphadenitis in a Patient with Chronic Granulomatous Disease

David E Greenberg, Li Ding, Adrian M Zelazny, Frida Stock, Alexandra Wong, Victoria L Anderson, Georgina Miller, David E Kleiner, Allan R Tenorio, Lauren Brinster, David W Dorward, Patrick R Murray, Steven M Holland

PLoS Pathog. 2006 Apr; 2(4): e28. Published online 2006 Apr 14. doi: 10.1371/journal.ppat.0020028

PMCID:: PMC1435791

Abstract Article PDF–425K

Select item 16828336.

Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).

M de Boer, A de Klein, J P Hossle, R Seger, L Corbeel, R S Weening, D Roos

Am J Hum Genet. 1992 Nov; 51(5): 1127–1135.

PMCID:: PMC1682833

Summary Page Browse PDF–1.6M

Select item 21928307.

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease

J Exp Med. 1996 Oct 1; 184(4): 1243–1249. doi: 10.1084/jem.184.4.1243

PMCID:: PMC2192830

Summary PDF–987K

Select item 25151168.

Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

Marcos Luengo-Blanco, Carolina Prando, Jacinta Bustamante, Walmir Cutrim Aragão-Filho, Paulo Vitor Soeiro Pereira, Jussara Rehder, Carolyn Padden, Jean-Laurent Casanova, Peter E. Newburger, Antonio Condino-Neto

Blood. 2008 Aug 15; 112(4): 1453–1460. Prepublished online 2008 Jun 3. doi: 10.1182/blood-2007-07-099267

PMCID:: PMC2515116

Abstract Article

Select item 26687499.

Chronic Granulomatous Disease: The European Experience

J. Merlijn van den Berg, Elsbeth van Koppen, Anders Åhlin, Bernd H. Belohradsky, Ewa Bernatowska, Lucien Corbeel, Teresa Español, Alain Fischer, Magdalena Kurenko-Deptuch, Richard Mouy, Theoni Petropoulou, Joachim Roesler, Reinhard Seger, Marie-José Stasia, Niels H. Valerius, Ron S. Weening, Baruch Wolach, Dirk Roos, Taco W. Kuijpers

PLoS One. 2009; 4(4): e5234. Published online 2009 Apr 21. doi: 10.1371/journal.pone.0005234

PMCID:: PMC2668749

Abstract Article PDF–200K

Select item 275965310.

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40^phox and selective defects in neutrophil NADPH oxidase activity

Juan D. Matute, Andres A. Arias, Nicola A. M. Wright, Iwona Wrobel, Christopher C. M. Waterhouse, Xing Jun Li, Christophe C. Marchal, Natalie D. Stull, David B. Lewis, MacGregor Steele, James D. Kellner, Weiming Yu, Samy O. Meroueh, William M. Nauseef, Mary C. Dinauer

Blood. 2009 Oct 8; 114(15): 3309–3315. Prepublished online 2009 Aug 19. doi: 10.1182/blood-2009-07-231498

PMCID:: PMC2759653

Abstract Article

Select item 859928511.

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing

Adiratna Mat Ripen, Mei Yee Chiow, Prakash Rao Rama Rao, Saharuddin Bin Mohamad

Front Immunol. 2021; 12: 778133. Published online 2021 Nov 4. doi: 10.3389/fimmu.2021.778133

PMCID:: PMC8599285

Abstract Article PDF–3.2M

Select item 408269612.

Diabetes, Renal and Cardiovascular Disease in p47^phox−/− Chronic Granulomatous Disease

Jennifer W. Leiding, Beatriz E. Marciano, Christa S. Zerbe, Suk See DeRavin, Harry L. Malech, Steven M. Holland

J Clin Immunol. Author manuscript; available in PMC 2014 Jul 5.

Published in final edited form as: J Clin Immunol. 2013 May; 33(4): 725–730. Published online 2013 Feb 6. doi: 10.1007/s10875-013-9871-8

PMCID:: PMC4082696

Abstract Article PDF–84K

Select item 425887313.

Assessment of Atherosclerosis in Chronic Granulomatous Disease

Christopher T. Sibley, Tyra Estwick, Anna Zavodni, Chiung-Yu Huang, Alan C. Kwan, Benjamin P. Soule, Debra A. Long Priel, Alan T. Remaley, Amanda K. Rudman Spergel, Evrim B. Turkbey, Douglas B. Kuhns, Steven M. Holland, Harry L. Malech, Kol A. Zarember, David A. Bluemke, John I. Gallin

Circulation. Author manuscript; available in PMC 2015 Dec 2.

Published in final edited form as: Circulation. 2014 Dec 2; 130(23): 2031–2039. Published online 2014 Sep 19. doi: 10.1161/CIRCULATIONAHA.113.006824

PMCID:: PMC4258873

Abstract Article PDF–492K

Select item 456812214.

Hematologically Important Mutations: The Autosomal Recessive Forms of Chronic Granulomatous Disease (Second Update)

Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Jacinta Bustamante, Caroline Kannengiesser, Martin de Boer, Karin van Leeuwen, M. Yavuz Köker, Baruch Wolach, Joachim Roesler, Harry L. Malech, Steven M. Holland, John I. Gallin, Marie-José Stasia

Blood Cells Mol Dis. Author manuscript; available in PMC 2015 Sep 13.

Published in final edited form as: Blood Cells Mol Dis. 2010 Apr 15; 44(4): 291–299. Published online 2010 Feb 18. doi: 10.1016/j.bcmd.2010.01.009

PMCID:: PMC4568122

Article PDF–731K

Select item 456889715.

Chronic Granulomatous Disease: A Large, Single-center US Experience

Pietro Bortoletto, Kyle Lyman, Andres Camacho, Marielle Fricchione, Aaruni Khanolkar, Ben Z. Katz

Pediatr Infect Dis J. 2015 Oct; 34(10): 1110–1114. Published online 2015 Sep 15. doi: 10.1097/INF.0000000000000840

PMCID:: PMC4568897

Abstract Article PDF–332K

Select item 634119016.

NCF1 (p47^phox)–deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

Douglas B. Kuhns, Amy P. Hsu, David Sun, Karen Lau, Danielle Fink, Paul Griffith, Da Wei Huang, Debra A. Long Priel, Laura Mendez, Samantha Kreuzburg, Christa S. Zerbe, Suk See De Ravin, Harry L. Malech, Steven M. Holland, Xiaolin Wu, John I. Gallin

Blood Adv. 2019 Jan 22; 3(2): 136–147. Published online 2019 Jan 16. doi: 10.1182/bloodadvances.2018023184

PMCID:: PMC6341190

Abstract Article PDF–1.4M

Select item 654510817.

Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series

DR. Joel Rivera-Concepción, Jorge Acevedo-Canabal, Antonio Burés, Gustavo Vargas, Carmen Cadilla, Natalio J. Izquierdo

Eur J Haematol. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Eur J Haematol. 2019 May; 102(5): 432–436. Published online 2019 Mar 6. doi: 10.1111/ejh.13210

PMCID:: PMC6545108

Article PDF–68K

Select item 685007118.

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease

Li‐Wei Gao, Qing‐Qin Yin, Yue‐Juan Tong, Jin‐Gang Gui, Xiu‐yun Liu, Xue‐li Feng, Ju Yin, Jun Liu, Yan Guo, Yao Yao, Bao‐Ping Xu, Jian‐Xin He, Kun‐Ling Shen, Yu‐Lung Lau, Zai‐Fang Jiang

Pediatr Allergy Immunol. 2019 May; 30(3): 378–386. Published online 2019 Mar 27. doi: 10.1111/pai.13033

PMCID:: PMC6850071

Abstract Article PDF–421K

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