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Items: 1 to 20 of 68

1.
Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion
Omar L. Gutierrez-Ruiz, Katherine M. Johnson, Eugene W. Krueger, Roseanne E. Nooren, Nicole Cruz-Reyes, Carrie Jo Heppelmann, Tara L. Hogenson, Martin E. Fernandez-Zapico, Mark A. McNiven, Gina L. Razidlo
Cell Rep. Author manuscript; available in PMC 2023 Oct 23.
Published in final edited form as: Cell Rep. 2023 Sep 26; 42(9): 113042. Published online 2023 Aug 30. doi: 10.1016/j.celrep.2023.113042
PMCID:
PMC10591794
AbstractArticlePDF–2.3M
2.
DOCK8-DEFICIENT CD4+ T CELLS ARE BIASED TO A TH2 EFFECTOR FATE AT THE EXPENSE OF TH1 AND TH17 CELLS
Stuart G Tangye, Bethany Pillay, Katrina L Randall, Danielle T Avery, Tri Giang Phan, Paul Gray, John B Ziegler, Joanne M Smart, Jane Peake, Peter D Arkwright, Sophie Hambleton, Jordan Orange, Christopher C. Goodnow, Gulbu Uzel, Jean-Laurent Casanova, Saul Oswaldo Lugo Reyes, Alexandra F. Freeman, Helen C Su, Cindy S Ma
J Allergy Clin Immunol. Author manuscript; available in PMC 2023 Sep 14.
Published in final edited form as: J Allergy Clin Immunol. 2017 Mar; 139(3): 933–949. Published online 2016 Aug 20. doi: 10.1016/j.jaci.2016.07.016
PMCID:
PMC10500883
AbstractArticlePDF–1.8M
3.
Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis
Kazufumi Kunimura, Kazuhiko Yamamura, Takeshi Nakahara, Makiko Kido‐Nakahara, Takehito Uruno, Yoshinori Fukui
Allergy. 2022 Dec; 77(12): 3670–3672. Published online 2022 Jul 15. doi: 10.1111/all.15429
PMCID:
PMC10083996
ArticlePDF–2.5M
4.
Insights into the pathogenesis of allergic disease from DOCK8 deficiency
Helen C. Su
Curr Opin Immunol. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Curr Opin Immunol. 2023 Feb; 80: 102277. Published online 2022 Dec 9. doi: 10.1016/j.coi.2022.102277
PMCID:
PMC9972721
AbstractArticlePDF–521K
5.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
Bethany A. Pillay, Mathieu Fusaro, Paul E. Gray, Aaron L. Statham, Leslie Burnett, Liliana Bezrodnik, Alisa Kane, Winnie Tong, Chrystelle Abdo, Sarah Winter, Samuel Chevalier, Romain Levy, Cécile Masson, Yohann Schmitt, Christine Bole, Marion Malphettes, Elizabeth Macintyre, Jean-Pierre De Villartay, John B. Ziegler, Joanne M. Smart, Jane Peake, Asghar Aghamohammadi, Lennart Hammarström, Hassan Abolhassani, Capucine Picard, Alain Fischer, Sylvain Latour, Benedicte Neven, Stuart G. Tangye, Cindy S. Ma
J Clin Invest. 2021 Feb 1; 131(3): e142434. Published online 2021 Feb 1. doi: 10.1172/JCI142434
PMCID:
PMC7843233
AbstractArticlePDF–5.6M
6.
Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign
Fagui Yue, Yang Yu, Xinyue Zhang, Yuting Jiang, Leilei Li, Ruizhi Liu, Hongguo Zhang
Medicine (Baltimore) 2021 Jan 22; 100(3): e23967. Published online 2021 Jan 22. doi: 10.1097/MD.0000000000023967
PMCID:
PMC7837864
AbstractArticlePDF–381K
7.
ILC3 Deficiency and Generalized ILC Abnormalities in DOCK8 Deficient Patients
Ahmet Eken, Murat Cansever, Fatma Zehra Okus, Serife Erdem, Ercan Nain, Zehra Busra Azizoglu, Yesim Haliloglu, Musa Karakukcu, Alper Ozcan, Omer Devecioglu, Guzide Aksu, Zeynep Arikan Ayyildiz, Erdem Topal, Elif Karakoc Aydiner, Ayca Kiykim, Ayse Metin, Funda Cipe, Aysenur Kaya, Hasibe Artac, Ismail Reisli, Sukru N. Guner, Vedat Uygun, Gulsun Karasu, Hamiyet Dönmez Altuntas, Halit Canatan, Mohamed Oukka, Ahmet Ozen, Talal A. Chatila, Sevgi Keles, Safa Baris, Ekrem Unal, Turkan Patiroglu
Allergy. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Allergy. 2020 Apr; 75(4): 921–932. Published online 2019 Oct 31. doi: 10.1111/all.14081
PMCID:
PMC7141948
AbstractArticlePDF–2.3M
8.
DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan
Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa, Yusuke Okuno
BMC Med Genet. 2019; 20: 114. Published online 2019 Jun 26. doi: 10.1186/s12881-019-0837-4
PMCID:
PMC6595679
AbstractArticlePDF–4.1M
9.
Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency
Sung-Yun Pai, Helen de Boer, Michel J. Massaad, Talal A. Chatila, Sevgi Keles, Haifa H. Jabara, Erin Janssen, Leslie E. Lehmann, Rima Hanna-Wakim, Ghassan Dbaibo, Douglas R. McDonald, Waleed Al-Herz, Raif S. Geha
J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Jan 3.
Published in final edited form as: J Allergy Clin Immunol. 2014 Jul; 134(1): 221–223. Published online 2014 Apr 1. doi: 10.1016/j.jaci.2014.02.023
PMCID:
PMC6317337
ArticlePDF–1.1M
10.
Expanded skin virome in DOCK8-deficient patients
Osnat Tirosh, Sean Conlan, Clay Deming, Shih-Queen Lee-Lin, Xin Huang, NISC Comparative Sequencing Program, Helen C. Su, Alexandra F. Freeman, Julia A. Segre, Heidi H. Kong
Nat Med. 2018; 24(12): 1815–1821. Published online 2018 Nov 5. doi: 10.1038/s41591-018-0211-7
PMCID:
PMC6286253
AbstractArticlePDF–1.3M
11.
Interaction of septin 7 and DOCK8 in equine lymphocytes reveals novel insights into signaling pathways associated with autoimmunity
Melanie Schauer, Kristina J. H. Kleinwort, Roxane L. Degroote, Carmen Wiedemann, Elisabeth Kremmer, Stefanie M. Hauck, Cornelia A. Deeg
Sci Rep. 2018; 8: 12332. Published online 2018 Aug 17. doi: 10.1038/s41598-018-30753-7
PMCID:
PMC6098150
AbstractArticlePDF–1.6M
12.
Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
Danijela Krgovic, Nadja Kokalj Vokac, Andreja Zagorac, Hojka Gregoric Kumperscak
Sci Rep. 2018; 8: 9449. Published online 2018 Jun 21. doi: 10.1038/s41598-018-27824-0
PMCID:
PMC6013431
AbstractArticlePDF–1.2M
13.
DOCK8 regulates signal transduction events to control immunity
Conor J Kearney, Katrina L Randall, Jane Oliaro
Cell Mol Immunol. 2017 May; 14(5): 406–411. Published online 2017 Apr 3. doi: 10.1038/cmi.2017.9
PMCID:
PMC5423093
AbstractArticlePDF–769K
14.
Clinically focused exome sequencing identifies a homozygous mutation that confers DOCK8 deficiency
Allison J. Burbank, Shaili N. Shah, Maureen Montgomery, David Peden, Teresa Tarrant, Eric T. Weimer
Pediatr Allergy Immunol. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Pediatr Allergy Immunol. 2016 Feb; 27(1): 96–98. Published online 2015 Oct 12. doi: 10.1111/pai.12451
PMCID:
PMC4724217
ArticlePDF–245K
15.
DOCK8 deficient patients have a breakdown in peripheral B cell tolerance and defective regulatory T cells
Erin Janssen, Henner Morbach, Sumana Ullas, Jason M. Bannock, Christopher Massad, Laurence Menard, Isil Barlan, Gerard Lefranc, Helen Su, Majed Dasouki, Waleed Al-Herz, Sevgi Keles, Talal Chatila, Raif S. Geha, Eric Meffre
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Dec; 134(6): 1365–1374. Published online 2014 Sep 11. doi: 10.1016/j.jaci.2014.07.042
PMCID:
PMC4261031
AbstractArticlePDF–1.6M
16.
Cutaneous Manifestations of DOCK8 Deficiency Syndrome
Dr. Emily Y. Chu, Dr. Alexandra F. Freeman, Dr. Huie Jing, Dr. Edward W. Cowen, Ms. Joie Davis, Dr. Helen C. Su, Dr. Steven M. Holland, Dr. Maria L. Chanco Turner
Arch Dermatol. Author manuscript; available in PMC 2014 Jul 18.
Published in final edited form as: Arch Dermatol. 2012 Jan; 148(1): 79–84. Published online 2011 Sep 19. doi: 10.1001/archdermatol.2011.262
PMCID:
PMC4103903
AbstractArticlePDF–475K
17.
Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome
Jeremiah C. Davis, Christopher G. Dove, Helen C. Su
Dis Markers. 2010; 29(3-4): 131–139. Published online 2010 Dec 20. doi: 10.3233/DMA-2010-0737
PMCID:
PMC3835385
SummaryPDF–94K
18.
Defective actin accumulation impairs human natural killer cell function in DOCK8 deficiency
Melissa C. Mizesko, Pinaki P. Banerjee, Linda Monaco-Shawver, Emily M. Mace, William E. Bernal, Julie Sawalle-Belohradsky, Bernd H. Belohradsky, Valerie Heinz, Alexandra F. Freeman, Kathleen E. Sullivan, Steven M. Holland, Troy R. Torgerson, Waleed Al-Herz, Janet Chou, Imelda C. Hanson, Michael H. Albert, Raif S. Geha, Ellen D. Renner, Jordan S. Orange
J Allergy Clin Immunol. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: J Allergy Clin Immunol. 2013 Mar; 131(3): 840–848. Published online 2013 Feb 4. doi: 10.1016/j.jaci.2012.12.1568
PMCID:
PMC3646579
AbstractArticlePDF–2.0M
19.
Combined Immunodeficiency Associated with DOCK8 Mutations
Qian Zhang, Jeremiah C. Davis, Ian T. Lamborn, Alexandra F. Freeman, Huie Jing, Amanda J. Favreau, Helen F. Matthews, Joie Davis, Maria L. Turner, Gulbu Uzel, Steven M. Holland, Helen C. Su
N Engl J Med. Author manuscript; available in PMC 2010 Oct 28.
Published in final edited form as: N Engl J Med. 2009 Nov 19; 361(21): 2046–2055. Published online 2009 Sep 23. doi: 10.1056/NEJMoa0905506
PMCID:
PMC2965730
AbstractArticlePDF–1.0M
20.
Large Deletions and Point Mutations Involving DOCK8 in the Autosomal Recessive Form of the Hyper-IgE Syndrome
Dr Karin R. Engelhardt, Sean McGhee, Sabine Winkler, Atfa Sassi, Cristina Woellner, Gabriela Lopez-Herrera, Andrew Chen, Hong Sook Kim, Maria Garcia Lloret, Ilka Schulze, Stephan Ehl, Jens Thiel, Dr Dietmar Pfeifer, Hendrik Veelken, Tim Niehues, Kathrin Siepermann, Sebastian Weinspach, Ismail Reisli, Sevgi Keles, Ferah Genel, Necil Kütükçüler, Yildiz Camcioğlu, Ayper Somer, Elif Karakoc Aydiner, Isil Barlan, Andrew Gennery, Ayse Metin, Aydan Degerliyurt, Maria C. Pietrogrande, Mehdi Yeganeh, Zeina Baz, Salem Al-Tamemi, Christoph Klein, Jennifer M. Puck, Steven M. Holland, Edward R. B. McCabe, Bodo Grimbacher, Talal Chatila
J Allergy Clin Immunol. Author manuscript; available in PMC 2010 Dec 1.
Published in final edited form as: J Allergy Clin Immunol. 2009 Dec; 124(6): 1289. doi: 10.1016/j.jaci.2009.10.038
Correction in:
volume 125 on page 743
PMCID:
PMC2818862
AbstractArticlePDF–2.2M

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