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Items: 1 to 20 of 91

1.
Factor IXa variants resistant to plasma inhibitors enhance clot formation in vivo
Lacramioara Ivanciu, Valder R. Arruda, Rodney M. Camire
Blood. 2023 Apr 20; 141(16): 2022–2032. Published online 2023 Feb 3. doi: 10.1182/blood.2022018083
PMCID:
PMC10163311
AbstractArticle
2.
F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes
Alessio Branchini, Massimo Morfini, Barbara Lunghi, Donata Belvini, Paolo Radossi, Loredana Bury, Maria Luisa Serino, Paola Giordano, Dorina Cultrera, Angelo Claudio Molinari, Mariasanta Napolitano, Elisabetta Bigagli, Giancarlo Castaman, Mirko Pinotti, Francesco Bernardi, The GePKHIS Study Group of AICE
J Thromb Haemost. 2022 Jan; 20(1): 69–81. Published online 2021 Oct 24. doi: 10.1111/jth.15552
PMCID:
PMC9298354
AbstractArticlePDF–2.1M
3.
The Molecular Basis of FIX Deficiency in Hemophilia B
Guomin Shen, Meng Gao, Qing Cao, Weikai Li
Int J Mol Sci. 2022 Mar; 23(5): 2762. Published online 2022 Mar 2. doi: 10.3390/ijms23052762
PMCID:
PMC8911121
AbstractArticlePDF–1.9M
4.
Genome wide CRISPR/Cas9 screen identifies the coagulation factor IX (F9) as a regulator of senescence
Paula Carpintero-Fernández, Michela Borghesan, Olga Eleftheriadou, Belen Pan-Castillo, Juan Antonio Fafián-Labora, Tom P. Mitchell, Alejandro Yuste, Muge Ogrunc, Thomas D. Nightingale, Maria Mayan, Ana O’Loghlen
Cell Death Dis. 2022 Feb; 13(2): 163. Published online 2022 Feb 19. doi: 10.1038/s41419-022-04569-3
PMCID:
PMC8858321
AbstractArticlePDF–4.4M
5.
Inherent hepatocytic heterogeneity determines expression and retention of edited F9 alleles post-AAV/CRISPR infusion
Qiang Wang, Lin Zhang, Guo-Wei Zhang, Jian-Hua Mao, Xiao-Dong Xi, Lu Jiang, Gang Lv, Jing Lu, Yan Shen, Zhu Chen, Jiang Zhu, Sai-Juan Chen
Proc Natl Acad Sci U S A. 2021 Oct 19; 118(42): e2110887118. Published online 2021 Oct 14. doi: 10.1073/pnas.2110887118
PMCID:
PMC8594492
AbstractArticlePDF–2.0M
6.
Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
Nils Mülling, Vivian Rosery, H. Christian Reinhardt, Maher Hanoun
Eur J Med Res. 2021; 26: 63. Published online 2021 Jun 29. doi: 10.1186/s40001-021-00533-7
PMCID:
PMC8243751
AbstractArticlePDF–690K
7.
Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay
Wenwen Gao, Yaqi Xu, Hongli Liu, Meng Gao, Qing Cao, Yiyi Wang, Longteng Cui, Rong Huang, Yan Shen, Sanqiang Li, Haiping Yang, Yixiang Chen, Chaokun Li, Haichuan Yu, Weikai Li, Guomin Shen
Blood Adv. 2020 Aug 11; 4(15): 3659–3667. Published online 2020 Aug 7. doi: 10.1182/bloodadvances.2020002520
PMCID:
PMC7422117
AbstractArticlePDF–1.1M
8.
Molecular characterization of hemophilia B patients in Colombia
Yolima A. Parrado Jara, Luz K. Yunis Hazbun, Adriana Linares, Juan J. Yunis Londoño
Mol Genet Genomic Med. 2020 May; 8(5): e1210. Published online 2020 Mar 10. doi: 10.1002/mgg3.1210
PMCID:
PMC7216803
AbstractArticlePDF–462K
9.
Mathematical model of thrombin generation and bleeding phenotype in Amish carriers of Factor IX:C deficiency vs. controls
S. Gupta, M.C. Bravo, M. Heiman, C. Nakar, K. Brummel-Ziedins, C.H. Miller, A. Shapiro
Thromb Res. Author manuscript; available in PMC 2020 Mar 14.
Published in final edited form as: Thromb Res. 2019 Oct; 182: 43–50. Published online 2019 Aug 8. doi: 10.1016/j.thromres.2019.07.020
PMCID:
PMC7071813
AbstractArticlePDF–898K
10.
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty
Mol Genet Genomic Med. 2019 Aug; 7(8): e840. Published online 2019 Jun 30. doi: 10.1002/mgg3.840
PMCID:
PMC6687662
AbstractArticlePDF–927K
11.
Sodium-site in serine protease domain of human coagulation factor IXa: evidence from the crystal structure and molecular dynamics simulations study
Kanagasabai Vadivel, Herman A. Schreuder, Alexander Liesum, Amy. E. Schmidt, Gunaseelan Goldsmith, S. Paul. Bajaj
J Thromb Haemost. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: J Thromb Haemost. 2019 Apr; 17(4): 574–584. Published online 2019 Mar 6. doi: 10.1111/jth.14401
PMCID:
PMC6443445
AbstractArticlePDF–1.9M
12.
Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B
Vijaya L. Simhadri, Nobuko H. Katagiri, Brian C. Lin, Ryan Hunt, Sujata Jha, Sandra C. Tseng, Andrew Wu, Amber A. Bentley, Ran Zichel, Qi Lu, Lily Zhu, Darón I. Freedberg, Dougald M. Monroe, Zuben E. Sauna, Robert Peters, Anton A. Komar, Chava Kimchi-Sarfaty
J Med Genet. Author manuscript; available in PMC 2018 Oct 17.
Published in final edited form as: J Med Genet. 2017 May; 54(5): 338–345. Published online 2016 Dec 22. doi: 10.1136/jmedgenet-2016-104072
PMCID:
PMC6192418
AbstractArticlePDF–1.3M
13.
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
Jill M. Johnsen, Shelley N. Fletcher, Haley Huston, Sarah Roberge, Beth K. Martin, Martin Kircher, Neil C. Josephson, Jay Shendure, Sarah Ruuska, Marion A. Koerper, Jaime Morales, Glenn F. Pierce, Diane J. Aschman, Barbara A. Konkle
Blood Adv. 2017 May 23; 1(13): 824–834. Published online 2017 May 18. doi: 10.1182/bloodadvances.2016002923
PMCID:
PMC5727804
AbstractArticlePDF–1.5M
14.
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
Alessio Branchini, Mattia Ferrarese, Matteo Campioni, Giancarlo Castaman, Rosella Mari, Francesco Bernardi, Mirko Pinotti
Blood. 2017 Apr 20; 129(16): 2303–2307. Prepublished online 2017 Feb 14. doi: 10.1182/blood-2016-09-738641
PMCID:
PMC5408560
AbstractArticle
15.
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Mojca Tajnik, Malgorzata Ewa Rogalska, Erica Bussani, Elena Barbon, Dario Balestra, Mirko Pinotti, Franco Pagani
PLoS Genet. 2016 May; 12(5): e1006082. Published online 2016 May 26. doi: 10.1371/journal.pgen.1006082
PMCID:
PMC4882169
AbstractArticlePDF–1.5M
16.
Mutation analysis of a cohort of US patients with hemophilia B
Tengguo Li, Connie H. Miller, Jennifer Driggers, Amanda B. Payne, Dorothy Ellingsen, W. Craig Hooper
Am J Hematol. Author manuscript; available in PMC 2015 Jul 16.
Published in final edited form as: Am J Hematol. 2014 Apr; 89(4): 375–379. Published online 2014 Mar 3. doi: 10.1002/ajh.23645
PMCID:
PMC4504203
AbstractArticlePDF–233K
17.
Human coagulation factor VIII domain-specific recombinant polypeptide expression
Su Jin Choi, Ki Jung Jang, Jeong-A Lim, Hye Sun Kim
Blood Res. 2015 Jun; 50(2): 103–108. Published online 2015 Jun 25. doi: 10.5045/br.2015.50.2.103
PMCID:
PMC4486152
AbstractArticlePDF–5.5M
18.
Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients
Qiuya Lu, Likui Yang, Chandrashekhara Manithody, Xuefeng Wang, Alireza R. Rezaie
Biochemistry. Author manuscript; available in PMC 2016 Jun 23.
Published in final edited form as: Biochemistry. 2015 Jun 23; 54(24): 3814–3821. Published online 2015 Jun 10. doi: 10.1021/acs.biochem.5b00270
PMCID:
PMC4479981
AbstractArticlePDF–720K
19.
Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
Claudia Pamela Radic, Liliana Carmen Rossetti, Miguel Martín Abelleyro, Miguel Candela, Raúl Pérez Bianco, Miguel de Tezanos Pinto, Irene Beatriz Larripa, Anne Goodeve, Carlos Daniel De Brasi
Thromb Haemost. Author manuscript; available in PMC 2014 Nov 5.
Published in final edited form as: Thromb Haemost. 2013 Jan; 109(1): 24–33. Published online 2012 Oct 23. doi: 10.1160/TH12-05-0302
PMCID:
PMC4220540
AbstractArticlePDF–332K
20.
Contribution of the NH2-terminal EGF-domain of Factor IXa to the Specificity of Intrinsic Tenase
Shabir H. Qureshi, Likui Yang, Alireza R. Rezaie
Thromb Haemost. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: Thromb Haemost. 2012 Dec; 108(6): 10.1160/TH12-06-0436. Published online 2012 Sep 26. doi: 10.1160/TH12-06-0436
PMCID:
PMC3511649
AbstractArticlePDF–1.2M

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