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Journal Articles

Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D′D3 and D4 domains

Monica Sacco, Stefano Lancellotti, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti, Maira Tardugno, Erica De Candia, Leonardo Di Gennaro, Maria Basso, Betti Giusti, Massimiliano Papi, Giordano Perini, Giancarlo Castaman, Raimondo De Cristofaro
Journal: Blood Advances
Blood Adv (2020) 4 (14): 3405–3415.
https://doi.org/10.1182/bloodadvances.2020002334
Published: 2020
Includes: Supplemental data
Journal Articles

Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms

Ashley Cartwright, Simon J. Webster, Annika de Jong, Richard J. Dirven, Lisa D. S. Bloomer, Ahlam M. AL-Buhairan, Ulrich Budde, Christer Halldén, David Habart, Jenny Goudemand, Ian R. Peake, Jeroen C. J. Eikenboom, Anne C. Goodeve, Daniel J. Hampshire
Journal: Blood Advances
Blood Adv (2020) 4 (13): 2979–2990.
https://doi.org/10.1182/bloodadvances.2018027813
Published: 2020
Includes: Supplemental data
Journal Articles

Multiple mutations at exon 2 of RHOA detected in plasma from patients with peripheral T-cell lymphoma

Barbara Ottolini, Nadia Nawaz, Christopher S. Trethewey, Sami Mamand, Rebecca L. Allchin, Richard Dillon, Paul A. Fields, Matthew J. Ahearne, Simon D. Wagner
Journal: Blood Advances
Blood Adv (2020) 4 (11): 2392–2403.
https://doi.org/10.1182/bloodadvances.2019001075
Published: 2020
Includes: Supplemental data
Journal Articles

IκB kinase 2 is not essential for platelet activation

Manuel Salzmann, Sonja Bleichert, Bernhard Moser, Marion Mussbacher, Mildred Haase, Bastian Hoesel, Waltraud C. Schrottmaier, Julia B. Kral-Pointner, Makoto Itakura, Katy Schmidt, Alice Assinger, Johannes A. Schmid
Journal: Blood Advances
Blood Adv (2020) 4 (4): 638–643.
https://doi.org/10.1182/bloodadvances.2019001044
Published: 2020
Includes: Supplemental data
Journal Articles

Germline deletion of ETV6 in familial acute lymphoblastic leukemia

Evadnie Rampersaud, David S. Ziegler, Ilaria Iacobucci, Debbie Payne-Turner, Michelle L. Churchman, Kasmintan A. Schrader, Vijai Joseph, Kenneth Offit, Katherine Tucker, Rosemary Sutton, Meera Warby, Georgia Chenevix-Trench, David G. Huntsman, Maria Tsoli, R. Scott Mead, Chunxu Qu, Vasiliki Leventaki, Gang Wu, Charles G. Mullighan
Journal: Blood Advances
Blood Adv (2019) 3 (7): 1039–1046.
https://doi.org/10.1182/bloodadvances.2018030635
Published: 2019
Journal Articles

Humanized GPIbα–von Willebrand factor interaction in the mouse

Sachiko Kanaji, Jennifer N. Orje, Taisuke Kanaji, Yuichi Kamikubo, Yosuke Morodomi, Yunfeng Chen, Alessandro Zarpellon, Jerome Eberhardt, Stefano Forli, Scot A. Fahs, Rashmi Sood, Sandra L. Haberichter, Robert R. Montgomery, Zaverio M. Ruggeri
Journal: Blood Advances
Blood Adv (2018) 2 (19): 2522–2532.
https://doi.org/10.1182/bloodadvances.2018023507
Published: 2018
Includes: Supplemental data
Journal Articles

ABO blood group A transferases catalyze the biosynthesis of FORS blood group FORS1 antigen upon deletion of exon 3 or 4

Miyako Yamamoto, Emili Cid, Fumiichiro Yamamoto
Journal: Blood Advances
Blood Adv (2017) 1 (27): 2756–2766.
https://doi.org/10.1182/bloodadvances.2017009795
Published: 2017
Includes: Supplemental data
Journal Articles

Gene-edited pseudogene resurrection corrects p47 phox -deficient chronic granulomatous disease

Randall K. Merling, Douglas B. Kuhns, Colin L. Sweeney, Xiaolin Wu, Sandra Burkett, Jessica Chu, Janet Lee, Sherry Koontz, Giovanni Di Pasquale, Sandra A. Afione, John A. Chiorini, Elizabeth M. Kang, Uimook Choi, Suk See De Ravin, Harry L. Malech
Journal: Blood Advances
Blood Adv (2016) 1 (4): 270–278.
https://doi.org/10.1182/bloodadvances.2016001214
Published: 2016
Includes: Supplemental data
Journal Articles

Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers

Debargh Dutta, Devi Gunasekera, Margaret V. Ragni, Kathleen P. Pratt
Journal: Blood Advances
Blood Adv (2016) 1 (3): 231–239.
https://doi.org/10.1182/bloodadvances.2016001651
Published: 2016