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Items: 1 to 20 of 47

1.
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis
Amal M. Yahya, Asia A. AlMulla, Haydar J. AlRufaye, Ahmed Al Dhaheri, Abdulghani S. Elomami, Suleiman Al-Hammadi, Lalitha Kailas, Ranjit Vijayan, Abdul-Kader Souid
Front Pediatr. 2021; 9: 713921. Published online 2021 Aug 16. doi: 10.3389/fped.2021.713921
PMCID:
PMC8415448
AbstractArticlePDF–2.4M
2.
Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins.
T W Kuijpers, R A Van Lier, D Hamann, M de Boer, L Y Thung, R S Weening, A J Verhoeven, D Roos
J Clin Invest. 1997 Oct 1; 100(7): 1725–1733. doi: 10.1172/JCI119697
PMCID:
PMC508355
SummaryPDF–201K
3.
A novel leukocyte adhesion deficiency type III mutation manifests functional importance of the compact FERM domain in kindlin-3
Zhen Xu, Shawn M. Jobe, Yan-Qing Ma, Jordan A. Shavit
J Thromb Haemost. Author manuscript; available in PMC 2024 Feb 16.
Published in final edited form as: J Thromb Haemost. 2024 Feb; 22(2): 558–564. Published online 2023 Oct 20. doi: 10.1016/j.jtha.2023.10.013
PMCID:
PMC10872323
AbstractArticlePDF–1.1M
4.
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets
Ronit Pasvolsky, Sara W. Feigelson, Sara Sebnem Kilic, Amos J. Simon, Guy Tal-Lapidot, Valentin Grabovsky, Jill R. Crittenden, Ninette Amariglio, Michal Safran, Ann M. Graybiel, Gideon Rechavi, Shifra Ben-Dor, Amos Etzioni, Ronen Alon
J Exp Med. 2007 Jul 9; 204(7): 1571–1582. doi: 10.1084/jem.20070058
PMCID:
PMC2118641
AbstractArticlePDF–1.4M
5.
IADD: An integrated Arabic dialect identification dataset
Jihad Zahir
Data Brief. 2022 Feb; 40: 107777. Published online 2021 Dec 30. doi: 10.1016/j.dib.2021.107777
PMCID:
PMC8741435
AbstractArticlePDF–2.5M
6.
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
Saba Shahid, Samreen Zaidi, Shariq Ahmed, Saima Siddiqui, Aiysha Abid, Shabbir Malik, Tahir Shamsi
Front Genet. 2019; 10: 360. Published online 2019 Apr 24. doi: 10.3389/fgene.2019.00360
PMCID:
PMC6491447
AbstractArticlePDF–378K
7.
Leukocyte Adhesion Deficiency-I variant Syndrome (LAD-Iv, LAD-III): Molecular Characterization of the Defect in an Index Family
ES Harris, TL Smith, GM Springett, AS Weyrich, GA Zimmerman
Am J Hematol. Author manuscript; available in PMC 2013 Feb 5.
Published in final edited form as: Am J Hematol. 2012 Mar; 87(3): 311–313. Published online 2011 Dec 3. doi: 10.1002/ajh.22253
PMCID:
PMC3564639
AbstractArticlePDF–848K
8.
Kindlin-3–mediated integrin adhesion is dispensable for quiescent but essential for activated hematopoietic stem cells
Raphael Ruppert, Markus Moser, Markus Sperandio, Emanuel Rognoni, Martin Orban, Wen-Hsin Liu, Ansgar S. Schulz, Robert A.J. Oostendorp, Steffen Massberg, Reinhard Fässler
J Exp Med. 2015 Aug 24; 212(9): 1415–1432. doi: 10.1084/jem.20150269
PMCID:
PMC4548061
AbstractArticlePDF–4.2M
9.
Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India
Priyanka Madhav Kambli, Umair Ahmed Bargir, Reetika Malik Yadav, Maya Ravishankar Gupta, Aparna Dhondi Dalvi, Gouri Hule, Madhura Kelkar, Sneha Sawant-Desai, Priyanka Setia, Neha Jodhawat, Nayana Nambiar, Amruta Dhawale, Pallavi Gaikwad, Shweta Shinde, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Anju Gupta, Vibhu Joshi, Madhubala Sharma, Kanika Arora, Rakesh Kumar Pilania, Himanshi Chaudhary, Amita Agarwal, Shobita Katiyar, Sagar Bhattad, Stalin Ramprakash, Raghuram CP, Ananthvikas Jayaram, Vinod Gornale, Revathi Raj, Ramya Uppuluri, Meena Sivasankaran, Deenadayalan Munirathnam, Harsha Prasad Lashkari, Manas Kalra, Anupam Sachdeva, Avinash Sharma, Sarath Balaji, Geeta Madathil Govindraj, Sunil Karande, Ruchi Nanavati, Mamta Manglani, Girish Subramanyam, Abhilasha Sampagar, Indumathi CK, Parinitha Gutha, Swati Kanakia, Shiv Prasad Mundada, Vidya Krishna, Sheela Nampoothiri, Sandeep Nemani, Amit Rawat, Mukesh Desai, Manisha Madkaikar
Front Immunol. 2020; 11: 612703. Published online 2020 Dec 16. doi: 10.3389/fimmu.2020.612703
PMCID:
PMC7772426
AbstractArticlePDF–703K
10.
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
AbstractArticlePDF–766K
11.
Diverse functions of kindlin/fermitin proteins during embryonic development in Xenopus laevis
Tania Rozario, Paul E. Mead, Douglas W. DeSimone
Mech Dev. Author manuscript; available in PMC 2015 Aug 28.
Published in final edited form as: Mech Dev. 2014 Aug; 133: 203–217. Published online 2014 Aug 28. doi: 10.1016/j.mod.2014.07.004
PMCID:
PMC4195491
AbstractArticlePDF–1.4M
12.
The Kindlin 3 Pleckstrin Homology Domain Has an Essential Role in Lymphocyte Function-associated Antigen 1 (LFA-1) Integrin-mediated B Cell Adhesion and Migration
Rosie Hart, Paula Stanley, Probir Chakravarty, Nancy Hogg
J Biol Chem. 2013 May 24; 288(21): 14852–14862. Published online 2013 Apr 17. doi: 10.1074/jbc.M112.434621
PMCID:
PMC3663508
AbstractArticlePDF–2.1M
13.
A β2-Integrin/MRTF-A/SRF Pathway Regulates Dendritic Cell Gene Expression, Adhesion, and Traction Force Generation
Carla Guenther, Imrul Faisal, Liisa M. Uotila, Marc Llort Asens, Heidi Harjunpää, Terhi Savinko, Tiina Öhman, Sean Yao, Markus Moser, Stephan W. Morris, Sari Tojkander, Susanna Carola Fagerholm
Front Immunol. 2019; 10: 1138. Published online 2019 May 28. doi: 10.3389/fimmu.2019.01138
PMCID:
PMC6546827
AbstractArticlePDF–7.6M
14.
Novel aspects of Kindlin-3 function in humans based on a new case of Leukocyte Adhesion Deficiency III (LAD-III)
Julia Meller, Nikolay L. Malinin, Soumya Panigrahi, Bethany A. Kerr, Arohi Patil, Yi Ma, Lakshmi Venkateswaran, Igor B. Rogozin, Narla Mohandas, Mohammed S. Ehlayel, Eugene A. Podrez, Javier Chinen, Tatiana V. Byzova
J Thromb Haemost. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: J Thromb Haemost. 2012 Jul; 10(7): 1397–1408. doi: 10.1111/j.1538-7836.2012.04768.x
PMCID:
PMC3583563
AbstractArticlePDF–5.3M
15.
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
AbstractArticlePDF–1.6M
16.
Adhesive Dynamics simulations quantitatively predict effects of kindlin-3 deficiency on T-cell homing
Nicholas R. Anderson, Dooyoung Lee, Daniel A. Hammer
Integr Biol (Camb) Author manuscript; available in PMC 2020 Jun 23.
Published in final edited form as: Integr Biol (Camb). 2019 Jun 1; 11(6): 293–300. doi: 10.1093/intbio/zyz024
PMCID:
PMC7309535
AbstractArticlePDF–768K
17.
A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans
Nikolay L Malinin, Li Zhang, Jeongsuk Choi, Alieta Ciocea, Olga Razorenova, Yan-Qing Ma, Eugene A Podrez, Michael Tosi, Donald P Lennon, Arnold I Caplan, Susan B Shurin, Edward F Plow, Tatiana V Byzova
Nat Med. Author manuscript; available in PMC 2010 Apr 20.
Published in final edited form as: Nat Med. 2009 Mar; 15(3): 313–318. Published online 2009 Feb 22. doi: 10.1038/nm.1917
PMCID:
PMC2857384
AbstractArticlePDF–2.1M
18.
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation
Lena Svensson, Kimberley Howarth, Alison McDowall, Irene Patzak, Rachel Evans, Siegfried Ussar, Markus Moser, Ayse Metin, Mike Fried, Ian Tomlinson, Nancy Hogg
Nat Med. Author manuscript; available in PMC 2009 Sep 1.
Published in final edited form as: Nat Med. 2009 Mar; 15(3): 306–312. Published online 2009 Feb 22. doi: 10.1038/nm.1931
PMCID:
PMC2680140
AbstractArticlePDF–1.3M
19.
Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans
Tejasvi Dudiki, Daniel W. Nascimento, Lauren S. Childs, Swetha Kareti, Charlie Androjna, Irina Zhevlakova, Tatiana V. Byzova
Bone. Author manuscript; available in PMC 2023 Jul 1.
Published in final edited form as: Bone. 2022 Jul; 160: 116397. Published online 2022 Mar 25. doi: 10.1016/j.bone.2022.116397
PMCID:
PMC9133165
AbstractArticlePDF–2.7M
20.
Structural and biochemical characterization of the key components of an auxin degradation operon from the rhizosphere bacterium Variovorax
Yongjian Ma, Xuzichao Li, Feng Wang, Lingling Zhang, Shengmin Zhou, Xing Che, Dehao Yu, Xiang Liu, Zhuang Li, Huabing Sun, Guimei Yu, Heng Zhang
PLoS Biol. 2023 Jul; 21(7): e3002189. Published online 2023 Jul 17. doi: 10.1371/journal.pbio.3002189
PMCID:
PMC10374108
AbstractArticlePDF–3.2M

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