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Select item 117052211.

Fibrinogen post‐translational modifications are biochemical determinants of fibrin clot properties and interactions

Margarita Tenopoulou

FEBS J. 2025 Jan; 292(1): 11–27. Published online 2024 Aug 23. doi: 10.1111/febs.17236

PMCID:: PMC11705221

Abstract Article PDF–1.4M

Select item 116838162.

Platelet-type von Willebrand disease: Local disorder of the platelet GPIbα β-switch drives high-affinity binding to von Willebrand factor

Alexander Tischer, Venkata R. Machha, Laurie Moon-Tasson, Matthew Auton

J Thromb Haemost. Author manuscript; available in PMC 2024 Dec 30.

Published in final edited form as: J Thromb Haemost. 2019 Dec; 17(12): 2022–2034. Published online 2019 Sep 19. doi: 10.1111/jth.14597

PMCID:: PMC11683816

Abstract Article PDF–2.4M

Select item 116655623.

LMAN1 serves as a cargo receptor for thrombopoietin

Lesley A. Everett, Zesen Lin, Ann Friedman, Vi T. Tang, Greggory Myers, Ginette Balbin-Cuesta, Richard King, Guojing Zhu, Beth McGee, Rami Khoriaty

JCI Insight. 2024 Dec 20; 9(24): e175704. Published online 2024 Dec 20. doi: 10.1172/jci.insight.175704

PMCID:: PMC11665562

Abstract Article PDF–3.6M

Select item 116597284.

The β‐Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia

Chen Qian, Chaoyu Huang, Qinghui Luo, Kaili Qin, Yangyang Wu, Lin Liao, Qian Zhang, Liqun Xiang, Jie Yan

J Clin Lab Anal. 2024 Dec; 38(24): e25123. Published online 2024 Dec 12. doi: 10.1002/jcla.25123

PMCID:: PMC11659728

Abstract Article PDF–1.2M

Select item 116594885.

A novel gene editing lexicon strategy for the haemophilia community: Research plan for development and preliminary results

Cedric Hermans, Leonard A. Valentino, Courtney D. Thornburg, Carmen Unzu, Mark A. Kay, Flora Peyvandi, Penni Smith, Wolfgang Miesbach, William McKeown, Glenn F. Pierce, Kate Khair, Steven W. Pipe, Katarina Starcevic, Monisha Pillai, Micheala Jones, Megan Chiao, Ilia Antonino, Craig Kessler

Haemophilia. 2024 Nov; 30(6): 1272–1280. Published online 2024 Oct 22. doi: 10.1111/hae.15108

PMCID:: PMC11659488

Abstract Article PDF–645K

Select item 116594826.

Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents

Megan Chaigneau, Julie Grabell, Emil Wijnker, Mackenzie Bowman, Paula James

Haemophilia. 2024 Nov; 30(6): 1393–1399. Published online 2024 Oct 5. doi: 10.1111/hae.15107

PMCID:: PMC11659482

Abstract Article PDF–254K

Select item 116453277.

RNAi targeting LMAN1-MCFD2 complex promotes anticoagulation in mice

Siqian Ma, Boyan Liu, Hong Du, Fei Yang, Jingjing Han, Xinqi Huang, Minyang Zhang, Shundong Ji, Miao Jiang

J Thromb Thrombolysis. 2024; 57(8): 1349–1362. Published online 2024 Sep 2. doi: 10.1007/s11239-024-03034-6

PMCID:: PMC11645327

Abstract Article PDF–2.0M

Select item 116351738.

Genetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A

Yaya Yang, Yidan Wang, Jian Gao

J Cell Mol Med. 2024 Dec; 28(23): e70275. Published online 2024 Dec 12. doi: 10.1111/jcmm.70275

PMCID:: PMC11635173

Abstract Article PDF–3.3M

Select item 116292069.

Adeno-associated virus–based gene therapy for hemophilia A and B: a systematic review and meta-analysis

Saarang R. Deshpande, Keerthy Joseph, Jiayi Tong, Yong Chen, Allyson Pishko, Adam Cuker

Blood Adv. 2024 Dec 10; 8(23): 5957–5974. Published online 2024 Oct 9. doi: 10.1182/bloodadvances.2024014111

PMCID:: PMC11629206

Abstract Article PDF–2.3M

Select item 1160979110.

Next-generation strategies to improve safety and efficacy of adeno-associated virus-based gene therapy for hemophilia: lessons from clinical trials in other gene therapies

Giovanni Di Minno, Wolfgang Miesbach, Giancarlo Castaman, Flora Peyvandi

Haematologica. 2024 Dec 1; 109(12): 3879–3891. Published online 2024 Mar 7. doi: 10.3324/haematol.2023.284622

PMCID:: PMC11609791

Abstract Article PDF–786K

Select item 1159998111.

Vincenzo La Mura, Vincenzo Cardinale, Raimondo De Cristofaro, Adriano De Santis, Giovanni Di Minno, Luca Fabris, Fabio Marra, Filomena Morisco, Flora Peyvandi, Maurizio Pompili, Cristina Santoro, Ezio Zanon, Giancarlo Castaman

Blood Adv. 2024 Nov 26; 8(22): 5725–5734. Published online 2024 Sep 5. doi: 10.1182/bloodadvances.2024013750

PMCID:: PMC11599981

Abstract Article PDF–988K

Select item 1157975312.

一个新的F10基因缺失突变所致遗传性凝血因子Ⅹ缺陷症家系及其致病机制研究

付栋彦, 卢晓梅, 于雅琳, 赵丽东, 王蕾, 杨嘉, 郑嘉伟, 王端阳, 杨林花, 王刚

Zhonghua Xue Ye Xue Za Zhi. 2024 Oct; 45(10): 902–908. Chinese. doi: 10.3760/cma.j.cn121090-20240506-00169

PMCID:: PMC11579753

Abstract Article PDF–415M

Select item 1157596613.

A child with factor V deficiency with a novel F5 gene mutation misdiagnosed as a left iliac fossa abscess: A case report

Yifan Zhang, Lu Liu, Qin Guo, Yiyuan Li, Shuanghong Luo, Chaomin Wan, Yu Zhu

Medicine (Baltimore) 2024 Nov 15; 103(46): e40436. Published online 2024 Nov 15. doi: 10.1097/MD.0000000000040436

PMCID:: PMC11575966

Abstract Article PDF–446K

Select item 1154996414.

Monitoring for liver cancer post-gene therapy – How much and how often?

Ype de Jong, Ira M Jacobson

J Viral Hepat. Author manuscript; available in PMC 2024 Nov 9.

Published in final edited form as: J Viral Hepat. 2024 Apr; 31(Suppl 1): 35–40. doi: 10.1111/jvh.13898

PMCID:: PMC11549964

Article PDF–61K

Select item 1153907615.

The contribution of the sinusoidal endothelial cell receptors CLEC4M, stabilin-2, and SCARA5 to VWF–FVIII clearance in thrombosis and hemostasis

Laura L. Swystun, Alison Michels, David Lillicrap

J Thromb Haemost. Author manuscript; available in PMC 2024 Nov 6.

Published in final edited form as: J Thromb Haemost. 2023 Aug; 21(8): 2007–2019. Published online 2023 Apr 19. doi: 10.1016/j.jtha.2023.04.014

PMCID:: PMC11539076

Abstract Article PDF–874K

Select item 1153039716.

Roctavian gene therapy for hemophilia A

Benjamin J. Samelson-Jones, Juliana C. Small, Lindsey A. George

Blood Adv. 2024 Oct 8; 8(19): 5179–5189. Published online 2024 Jul 14. doi: 10.1182/bloodadvances.2023011847

PMCID:: PMC11530397

Abstract Article PDF–1.1M

Select item 1153039317.

Optimizing liver health before and after gene therapy for hemophilia A

Margaret V. Ragni, Henry Mead, Ype P. de Jong, Radoslaw Kaczmarek, Andrew D. Leavitt, Brian Long, Diane J. Nugent, Denise E. Sabatino, Sylvia Fong, Annette von Drygalski, Christopher E. Walsh, Bruce A. Luxon

Blood Adv. 2024 Oct 8; 8(19): 5203–5212. Published online 2024 Jun 10. doi: 10.1182/bloodadvances.2024013059

PMCID:: PMC11530393

Abstract Article PDF–787K

Select item 1151204218.

Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD

Zhenfeng Song, Pattaraporn Thepsuwan, Woosuk Steve Hur, Mauricio Torres, Shuangcheng Alivia Wu, Xiaoqiong Wei, Nusrat Jahan Tushi, Juncheng Wei, Francesca Ferraresso, Adrienne W. Paton, James C. Paton, Ze Zheng, Kezhong Zhang, Deyu Fang, Christian J. Kastrup, Sunil Jaiman, Matthew James Flick, Shengyi Sun

Nat Commun. 2024; 15: 9244. Published online 2024 Oct 26. doi: 10.1038/s41467-024-53639-x

PMCID:: PMC11512042

Abstract Article PDF–23M

Select item 1150701219.

Heyde Syndrome Unveiled: A Case Report with Current Literature Review and Molecular Insights

Mladen Maksić, Irfan Corović, Isidora Stanisavljević, Dušan Radojević, Tijana Veljković, Željko Todorović, Marina Jovanović, Nataša Zdravković, Bojan Stojanović, Bojana Simović Marković, Ivan Jovanović

Int J Mol Sci. 2024 Oct; 25(20): 11041. Published online 2024 Oct 14. doi: 10.3390/ijms252011041

PMCID:: PMC11507012

Abstract Article PDF–2.9M

Select item 1149991920.

Effects of coagulation factors on bone cells and consequences of their absence in haemophilia a patients

Giulia Battafarano, Stefano Lancellotti, Monica Sacco, Michela Rossi, Sara Terreri, Jacopo Di Gregorio, Laura Di Giuseppe, Matteo D’Agostini, Ottavia Porzio, Leonardo Di Gennaro, Maira Tardugno, Simone Pelle, Salvatore Minisola, Renato Maria Toniolo, Matteo Luciani, Andrea Del Fattore, Raimondo De Cristofaro

Sci Rep. 2024; 14: 25001. Published online 2024 Oct 23. doi: 10.1038/s41598-024-75747-w