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Select item 101499311.

Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction

Suresh Velnati, Sara Centonze, Giulia Rossino, Beatrice Purghè, Annamaria Antona, Luisa Racca, Sabrina Mula, Elisa Ruffo, Valeria Malacarne, Mario Malerba, Marcello Manfredi, Andrea Graziani, Gianluca Baldanzi

Front Immunol. 2023; 14: 1043603. Published online 2023 Apr 17. doi: 10.3389/fimmu.2023.1043603

PMCID:: PMC10149931

Article PDF–6.5M

Select item 97837902.

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott–Aldrich syndrome

Xin Ji, Xuening Hou, Xin Guo, Yifeng Sun, Futian Ma, Jihong Hao

Orphanet J Rare Dis. 2022; 17: 447. Published online 2022 Dec 22. doi: 10.1186/s13023-022-02589-y

PMCID:: PMC9783790

Article PDF–1.6M

Select item 87196383.

WASP integrates substrate topology and cell polarity to guide neutrophil migration

Rachel M. Brunetti, Gabriele Kockelkoren, Preethi Raghavan, George R.R. Bell, Derek Britain, Natasha Puri, Sean R. Collins, Manuel D. Leonetti, Dimitrios Stamou, Orion D. Weiner

J Cell Biol. 2022 Feb 7; 221(2): e202104046. Published online 2021 Dec 29. doi: 10.1083/jcb.202104046

PMCID:: PMC8719638

Article PDF–7.0M

Select item 80784284.

Clinical and genetic analysis of 2 rare cases of Wiskott–Aldrich syndrome from Chinese minorities: Two case reports

Haifeng Liu, Yanchun Wang, Yangfang Li, Lvyan Tao, Yu Zhang, Xiaoli He, Yuantao Zhou, Xiaoning Liu, Yan Wang, Li Li

Medicine (Baltimore) 2021 Apr 23; 100(16): e25527. Published online 2021 Apr 23. doi: 10.1097/MD.0000000000025527

PMCID:: PMC8078428

Article PDF–1.5M

Select item 65563825.

Wiskott–Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma

Matteo Menotti, Chiara Ambrogio, Taek-Chin Cheong, Chiara Pighi, Ines Mota, Seth H. Cassel, Mara Compagno, Qi Wang, Riccardo Dall’Olio, Valerio Minero, Teresa Poggio, Geeta Geeta Sharma, Enrico Patrucco, Cristina Mastini, Ramesh Choudhari, Achille Pich, Alberto Zamo’, Roberto Piva, Silvia Giliani, Luca Mologni, Clayton K. Collings, Cigall Kadoch, Carlo Gambacorti-Passerini, Luigi D. Notarangelo, Ines M. Anton, Claudia Voena, Roberto Chiarle

Nat Med. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Med. 2019 Jan; 25(1): 130–140. Published online 2018 Dec 3. doi: 10.1038/s41591-018-0262-9

PMCID:: PMC6556382

Article PDF–2.3M

Select item 60547346.

A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi

BMC Med Genet. 2018; 19: 123. Published online 2018 Jul 20. doi: 10.1186/s12881-018-0647-0

PMCID:: PMC6054734

Article PDF–881K

Select item 58658217.

Whole Wiskott-Aldrich syndrome protein gene deletion identified by high throughput sequencing

Xiangling He, Runying Zou, Bing Zhang, Yalan You, Yang Yang, Xin Tian

Mol Med Rep. 2017 Nov; 16(5): 6526–6531. Published online 2017 Aug 31. doi: 10.3892/mmr.2017.7416

PMCID:: PMC5865821

Article PDF–930K

Select item 57527148.

Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

Takashi Ohya, Masakatsu Yanagimachi, Kentaro Iwasawa, Shuichiro Umetsu, Tsuyoshi Sogo, Ayano Inui, Tomoo Fujisawa, Shuichi Ito

World J Gastroenterol. 2017 Dec 28; 23(48): 8544–8552. Published online 2017 Dec 28. doi: 10.3748/wjg.v23.i48.8544

PMCID:: PMC5752714

Article PDF–1.2M

Select item 54802569.

Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela, Margareth Castro Ozelo

BMC Pediatr. 2017; 17: 151. Published online 2017 Jun 22. doi: 10.1186/s12887-017-0897-6

PMCID:: PMC5480256

Article PDF–1.0M

Select item 536901710.

Neural Wiskott-Aldrich syndrome protein (nWASP) is implicated in human lung cancer invasion

Bethan A. Frugtniet, Tracey A. Martin, Lijian Zhang, Wen G. Jiang

BMC Cancer. 2017; 17: 224. Published online 2017 Mar 28. doi: 10.1186/s12885-017-3219-3

PMCID:: PMC5369017

Article PDF–1.2M

Select item 460713111.

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients

Francesca Pala, Henner Morbach, Maria Carmina Castiello, Jean-Nicolas Schickel, Samantha Scaramuzza, Nicolas Chamberlain, Barbara Cassani, Salome Glauzy, Neil Romberg, Fabio Candotti, Alessandro Aiuti, Marita Bosticardo, Anna Villa, Eric Meffre

J Clin Invest. 2015 Oct 1; 125(10): 3941–3951. Published online 2015 Sep 14. doi: 10.1172/JCI82249

PMCID:: PMC4607131

Article PDF–3.2M

Select item 426697512.

X-Linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis

Neeraj Jain, Jun Hou Tan, Shijin Feng, Bhawana George, Thirumaran Thanabalu

J Biomed Sci. 2014; 21(1): 91. Published online 2014 Sep 9. doi: 10.1186/s12929-014-0091-1

PMCID:: PMC4266975

Article PDF–2.7M

Select item 424603813.

Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome

Koustav Sarkar, Sanjoy Sadhukhan, Seong-Su Han, Yatin M. Vyas

Blood. 2014 Nov 27; 124(23): 3409–3419. Prepublished online 2014 Sep 24. doi: 10.1182/blood-2014-07-587642

PMCID:: PMC4246038

Article

Select item 401214114.

Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans

Maria Carmina Castiello, Marita Bosticardo, Francesca Pala, Marco Catucci, Nicolas Chamberlain, Menno C. van Zelm, Gertjan J. Driessen, Malgorzata Pac, Ewa Bernatowska, Samantha Scaramuzza, Alessandro Aiuti, Aisha V. Sauer, Elisabetta Traggiai, Eric Meffre, Anna Villa, Mirjam van der Burg

J Autoimmun. 2014 May; 50(100): 42–50. doi: 10.1016/j.jaut.2013.10.006

PMCID:: PMC4012141

Article

Select item 383552015.

The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell Function

Michael P. Blundell, Austen Worth, Gerben Bouma, Adrian J. Thrasher

Dis Markers. 2010; 29(3-4): 157–175. Published online 2010 Dec 20. doi: 10.3233/DMA-2010-0735

PMCID:: PMC3835520

Summary PDF–3.3M

Select item 343450916.

Ubiquitylation-Dependent Negative Regulation of WASp Is Essential for Actin Cytoskeleton Dynamics

Barak Reicher, Noah Joseph, Ahuvit David, Maor H. Pauker, Orly Perl, Mira Barda-Saad

Mol Cell Biol. 2012 Aug; 32(15): 3153–3163. doi: 10.1128/MCB.00161-12

PMCID:: PMC3434509

Article PDF–2.0M

Select item 315816917.

Arp2/3 complex is bound and activated by two WASP proteins

Shae B. Padrick, Lynda K. Doolittle, Chad A. Brautigam, David S. King, Michael K. Rosen

Proc Natl Acad Sci U S A. 2011 Aug 16; 108(33): E472-E479. Published online 2011 Jun 15. doi: 10.1073/pnas.1100236108

PMCID:: PMC3158169

Article PDF–1.4M

Select item 312597418.

A LARGE KINDRED WITH X-LINKED NEUTROPENIA WITH AN I294T MUTATION OF THE WISKOTT-ALDRICH SYNDROME GENE

Karolien Beel, Melanie M. Cotter, Jan Blatny, Jonathan Bond, Geoff Lucas, Frances Greene, Vik Vanduppen, Daisy W. Leung, Sean Rooney, Owen P. Smith, Michael K. Rosen, Peter Vandenberghe

Br J Haematol. Author manuscript; available in PMC 2011 Jun 29.

Published in final edited form as: Br J Haematol. 2009 Jan; 144(1): 120–126. Published online 2008 Nov 1. doi: 10.1111/j.1365-2141.2008.07416.x

PMCID:: PMC3125974

Article PDF–366K

Select item 256784619.

Evolution of Highly Polymorphic T Cell Populations in Siblings with the Wiskott-Aldrich Syndrome

Maxim I. Lutskiy, Jun Y. Park, Susanna K. Remold, Eileen Remold-O'Donnell

PLoS One. 2008; 3(10): e3444. Published online 2008 Oct 20. doi: 10.1371/journal.pone.0003444

PMCID:: PMC2567846

Article PDF–458K

Select item 238413320.

Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome

Brian R. Davis, Michael J. DiCola, Nicole L. Prokopishyn, Jonathan B. Rosenberg, Daniele Moratto, Linda M. Muul, Fabio Candotti, R. Michael Blaese

Blood. 2008 May 15; 111(10): 5064–5067. Prepublished online 2008 Mar 10. doi: 10.1182/blood-2007-06-095299

PMCID:: PMC2384133

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