PMC Articles for MedGen (Select 763703) - PMC

Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, Eyal Kristal, George Shubinsky, Galina Ling, Idan Cohen, Michael Geylis, Amit Nahum, Yuval Yogev, Ohad S. Birk

Eur J Hum Genet. 2023 Oct; 31(10): 1101–1107. Published online 2023 Jan 4. doi: 10.1038/s41431-022-01278-5

PMCID:: PMC10545727

Article PDF–1.5M

Select item 105339906.

Rare solid tumors in a patient with Wiskott–Aldrich syndrome after hematopoietic stem cell transplantation: case report and review of literature

Emma Coppola, Giuliana Giardino, Massimo Abate, Francesco Paolo Tambaro, Delfina Bifano, Elisabetta Toriello, Antonio De Rosa, Francesca Cillo, Claudio Pignata, Emilia Cirillo

Front Immunol. 2023; 14: 1229674. Published online 2023 Sep 13. doi: 10.3389/fimmu.2023.1229674

PMCID:: PMC10533990

Article PDF–1.1M

Select item 104571927.

Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study

Ilaria Bitetti, Valentina Lanzara, Giovanna Margiotta, Antonio Varone

Gene Ther. 2023; 30(7-8): 592–597. Published online 2022 May 24. doi: 10.1038/s41434-022-00341-6

PMCID:: PMC10457192

Article PDF–496K

Select item 104082618.

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

David B. Beck, Dale L. Bodian, Vandan Shah, Uyenlinh L. Mirshahi, Jung Kim, Yi Ding, Samuel J. Magaziner, Natasha T. Strande, Anna Cantor, Jeremy S. Haley, Adam Cook, Wesley Hill, Alan L. Schwartz, Peter C. Grayson, Marcela A. Ferrada, Daniel L. Kastner, David J. Carey, Douglas R. Stewart

JAMA. 2023 Jan 24; 329(4): 318–324. Published online 2023 Jan 24. doi: 10.1001/jama.2022.24836

PMCID:: PMC10408261

Article

Select item 103752699.

Spectrum of clonal hematopoiesis in VEXAS syndrome

Fernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, Terra Lasho, Ruba Shalhoub, Xiaoyang Ma, Hugh Alessi, Christy Finke, Matthew J. Koster, Abhishek Mangaonkar, Kenneth J. Warrington, Kebede Begna, Zhuoer Xie, Amanda K. Ombrello, David Viswanatha, Marcela Ferrada, Lorena Wilson, Ronald Go, Taxiarchis Kourelis, Kaaren Reichard, Horatiu Olteanu, Ivana Darden, Dalton Hironaka, Lemlem Alemu, Sachiko Kajigaya, Sofia Rosenzweig, Rodrigo T. Calado, Emma M. Groarke, Daniel L. Kastner, Katherine R. Calvo, Colin O. Wu, Peter C. Grayson, Neal S. Young, David B. Beck, Bhavisha A. Patel, Mrinal M. Patnaik

Blood. 2023 Jul 20; 142(3): 244–259. Published online 2023 Apr 25. doi: 10.1182/blood.2022018774

PMCID:: PMC10375269

Article

Select item 1035025910.

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

Arati Nandan Saptarshi, Rashmi K. Dongerdiye, Tejashree Anil More, Prabhakar S. Kedar

Ital J Pediatr. 2023; 49: 84. Published online 2023 Jul 16. doi: 10.1186/s13052-023-01493-w

PMCID:: PMC10350259

Article PDF–1.5M

Select item 1033626311.

Gata1s mutant mice display persistent defects in the erythroid lineage

Te Ling, Kevin Zhang, Jiayue Yang, Sandeep Gurbuxani, John D. Crispino

Blood Adv. 2023 Jul 11; 7(13): 3253–3264. Published online 2022 Nov 11. doi: 10.1182/bloodadvances.2022008124

PMCID:: PMC10336263

Article PDF–3.4M

Select item 1031562612.

A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype

Ivan Ferrer-Vicens, Daniel C. J. Ferguson, Marieangela C. Wilson, Kate J. Heesom, James J. Bieker, Jan Frayne

Blood. 2023 Jun 22; 141(25): 3039–3054. Published online 2023 Apr 25. doi: 10.1182/blood.2022018735

PMCID:: PMC10315626

Article

Select item 1029840813.

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

Int J Mol Sci. 2023 Jun; 24(12): 9935. Published online 2023 Jun 9. doi: 10.3390/ijms24129935

PMCID:: PMC10298408

Article PDF–4.6M

Select item 1028277614.

The Wiskott–Aldrich syndrome protein is required for positive selection during T-cell lineage differentiation

Melissa Pille, John Avila, Guillem Sanchez Sanchez, Glenn Goetgeluk, Stijn De Munter, Hanne Jansen, Lore Billiet, Karin Weening, Haipeng Xue, Sarah Bonte, Joline Ingels, Laurenz De Cock, Eva Pascal, Lucas Deseins, Tessa Kerre, Tom Taghon, Georges Leclercq, David Vermijlen, Brian Davis, Bart Vandekerckhove

Front Immunol. 2023; 14: 1188099. Published online 2023 Jun 7. doi: 10.3389/fimmu.2023.1188099

PMCID:: PMC10282776

Article PDF–4.2M

Select item 1019978215.

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1)

Klaudia Kulczynska-Figurny, James J. Bieker, Miroslawa Siatecka

Mutat Res Rev Mutat Res. Author manuscript; available in PMC 2023 May 20.

Published in final edited form as: Mutat Res Rev Mutat Res. 2020 Oct-Dec; 786: 108336. Published online 2020 Oct 9. doi: 10.1016/j.mrrev.2020.108336

PMCID:: PMC10199782

Article PDF–960K

Select item 1015363316.

Phase I Study and Cell-Free DNA Analysis of T-DM1 and Metronomic Temozolomide for Secondary Prevention of HER2-Positive Breast Cancer Brain Metastases

Sarah Jenkins, Wei Zhang, Seth M. Steinberg, Darryl Nousome, Nicole Houston, Xiaolin Wu, Terri S. Armstrong, Eric Burton, Dee Dee Smart, Ritu Shah, Cody J. Peer, Brett Mozarsky, Oluwatobi Arisa, William D. Figg, Tito R. Mendoza, Elizabeth Vera, Priscilla Brastianos, Scott Carter, Mark R. Gilbert, Carey K. Anders, Roisín M. Connolly, Carol Tweed, Karen L. Smith, Imran Khan, Stanley Lipkowitz, Patricia S. Steeg, Alexandra S. Zimmer

Clin Cancer Res. Author manuscript; available in PMC 2023 Oct 14.

Published in final edited form as: Clin Cancer Res. 2023 Apr 14; 29(8): 1450–1459. doi: 10.1158/1078-0432.CCR-22-0855

PMCID:: PMC10153633

Article PDF–469K

Select item 1012816617.

Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients

Amy P Hsu

Clin Exp Immunol. 2023 May; 212(2): 137–146. Published online 2023 Jan 6. doi: 10.1093/cei/uxad001

PMCID:: PMC10128166

Article PDF–946K

Select item 1002053218.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

Anna Zaninoni, Roberta Marra, Elisa Fermo, Dario Consonni, Immacolata Andolfo, Anna Paola Marcello, Barbara Eleni Rosato, Cristina Vercellati, Wilma Barcellini, Achille Iolascon, Paola Bianchi, Roberta Russo

Sci Rep. 2023; 13: 4395. Published online 2023 Mar 16. doi: 10.1038/s41598-023-31571-2

PMCID:: PMC10020532

Article PDF–1.1M

Select item 977124119.

Frontier and hotspot evolution in Wiskott–Aldrich syndrome: A bibliometric analysis from 2001 to 2021

Shixu Liu, Xiaoyan Yao, Kun Xia, Jinzhi Zhang, Yanyi Liu, Xiao Xia, Guangxi Li

Medicine (Baltimore) 2022 Dec 16; 101(50): e32347. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032347

PMCID:: PMC9771241

Article PDF–1.5M

Select item 963169420.

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

David Marx, Arnaud Dupuis, Anita Eckly, Anne Molitor, Jérôme Olagne, Guy Touchard, Sihem Kaaki, Cécile Ory, Anne-Laure Faller, Bénédicte Gérard, Melanie Cotter, Lisa Westerberg, Marton Keszei, Bruno Moulin, Christian Gachet, Sophie Caillard, Seiamak Bahram, Raphaël Carapito

Blood Adv. 2022 Sep 27; 6(18): 5279–5284. Published online 2022 Sep 19. doi: 10.1182/bloodadvances.2021006789

PMCID:: PMC9631694

Article PDF–1.3M

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