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Items: 1 to 20 of 92

1.
The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes
Suvoshree Ghosh, Johannes Oldenburg, Katrin J. Czogalla-Nitsche
Int J Mol Sci. 2022 Jan; 23(2): 798. Published online 2022 Jan 12. doi: 10.3390/ijms23020798
PMCID:
PMC8775833
AbstractArticlePDF–743K
2.
Exon 2 Skipping Eliminates Gamma-Glutamyl Carboxylase Activity, Indicating a Partial Splicing Defect in a Patient with Vitamin K Clotting Factor Deficiency
Mark A Rishavy, Kevin W Hallgren, Haitao Zhang, Kurt W Runge, Kathleen L Berkner
J Thromb Haemost. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: J Thromb Haemost. 2019 Jul; 17(7): 1053–1063. Published online 2019 Jun 7. doi: 10.1111/jth.14456
PMCID:
PMC7181818
AbstractArticlePDF–2.5M
3.
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations
Eva Y. G. De Vilder, Jens Debacker, Olivier M. Vanakker
Int J Mol Sci. 2017 Feb; 18(2): 240. Published online 2017 Jan 25. doi: 10.3390/ijms18020240
PMCID:
PMC5343777
AbstractArticlePDF–1.7M
4.
Hereditary combined deficiency of the vitamin K-dependent clotting factors
Mariasanta Napolitano, Guglielmo Mariani, Mario Lapecorella
Orphanet J Rare Dis. 2010; 5: 21. Published online 2010 Jul 14. doi: 10.1186/1750-1172-5-21
PMCID:
PMC2913942
AbstractArticlePDF–1013K
5.
Familial Deficiency of Vitamin K–Dependent Clotting Factors
B. W. Weston, P. E. Monahan
Haemophilia. Author manuscript; available in PMC 2009 Nov 1.
Published in final edited form as: Haemophilia. 2008 Nov; 14(6): 1209–1213. doi: 10.1111/j.1365-2516.2008.01853.x
PMCID:
PMC2643352
AbstractArticlePDF–51K
6.
Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state
Shuang Li, Jie Sun, Shixuan Liu, Fengbo Zhou, Michael L. Gross, Weikai Li
Blood Adv. 2023 May 23; 7(10): 2271–2282. Published online 2022 Dec 14. doi: 10.1182/bloodadvances.2021006876
PMCID:
PMC10225482
AbstractArticlePDF–3.2M
7.
Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease
Kathleen L. Berkner, Kurt W. Runge
Int J Mol Sci. 2022 May; 23(10): 5759. Published online 2022 May 20. doi: 10.3390/ijms23105759
PMCID:
PMC9146348
AbstractArticlePDF–2.1M
8.
Suspected vitamin K-dependent coagulation factor deficiency in pregnancy: A case report
Mariam Ayyash, Meera Chitlur, Johannes Oldenburg, Majid Shaman
Case Rep Womens Health. 2022 Apr; 34: e00416. Published online 2022 Apr 27. doi: 10.1016/j.crwh.2022.e00416
PMCID:
PMC9062749
AbstractArticlePDF–330K
9.
Congenital Combined Bleeding Disorders, a Comprehensive Study of a Large Number of Iranian Patients
Seyed Esmaeil Ahmadi, Mohammad Jazebi, Gholamreza Bahoush, Mohammad Reza Baghaipour, Fereydoun Ala, Shadi Tabibian
Clin Appl Thromb Hemost. 2021 Jan-Dec; 27: 1076029621996813. Published online 2021 Mar 25. doi: 10.1177/1076029621996813
PMCID:
PMC8718157
AbstractArticlePDF–250K
10.
Treatment of vitamin K-dependent coagulation factor deficiency and subarachnoid hemorrhage
Hai-fei Chen, Tian-qin Wu, Ling-juan Jin, Jie-qing Tang, Jing-jing Zhu, Ying-chao Ge, Zheng-yang Li, Hong-shi Shen, Long-mei Qin, Zi-qiang Yu, Zhao-yue Wang
World J Emerg Med. 2011; 2(1): 73–76. doi: 10.5847/wjem.j.1920-8642.2011.01.014
PMCID:
PMC4129736
AbstractArticlePDF–444K
11.
FVIII regulates the molecular profile of endothelial cells: functional impact on the blood barrier and macrophage behavior
Marie Cadé, Javier Muñoz-Garcia, Antoine Babuty, Louis Paré, Denis Cochonneau, Karim Fekir, Mathias Chatelais, Marie-Françoise Heymann, Anna Lokajczyk, Catherine Boisson-Vidal, Dominique Heymann
Cell Mol Life Sci. 2022 Mar; 79(3): 145. Published online 2022 Feb 21. doi: 10.1007/s00018-022-04178-5
PMCID:
PMC11072670
AbstractArticlePDF–3.6M
12.
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy
Kai Yu, Natalie Deuitch, Matthew Merguerian, Lea Cunningham, Joie Davis, Erica Bresciani, Jamie Diemer, Elizabeth Andrews, Alice Young, Frank Donovan, Raman Sood, Kathleen Craft, Shawn Chong, Settara Chandrasekharappa, Jim Mullikin, Paul P. Liu
Blood Adv. 2024 Jan 23; 8(2): 497–511. Published online 2023 Nov 29. doi: 10.1182/bloodadvances.2023011165
PMCID:
PMC10837196
AbstractArticlePDF–2.7M
13.
An intronic RNA element modulates Factor VIII exon-16 splicing
Victor Tse, Guillermo Chacaltana, Martin Gutierrez, Nicholas M Forino, Arcelia G Jimenez, Hanzhang Tao, Phong H Do, Catherine Oh, Priyanka Chary, Isabel Quesada, Antonia Hamrick, Sophie Lee, Michael D Stone, Jeremy R Sanford
Nucleic Acids Res. 2024 Jan 11; 52(1): 300–315. Published online 2023 Nov 14. doi: 10.1093/nar/gkad1034
PMCID:
PMC10783525
AbstractArticlePDF–2.2M
14.
CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice
Ke Xi, Si-Qing Cai, Hui-Fang Yan, Yue Tian, Jie Cai, Xiao-Mei Yang, Jing-Min Wang, Guo-Gang Xing
J Neurosci. 2023 May 24; 43(21): 3949–3969. doi: 10.1523/JNEUROSCI.1835-22.2023
PMCID:
PMC10219040
AbstractArticlePDF–7.6M
15.
Zebrafish Tric-b is required for skeletal development and bone cells differentiation
Francesca Tonelli, Laura Leoni, Valentina Daponte, Roberta Gioia, Silvia Cotti, Imke A. K. Fiedler, Daria Larianova, Andy Willaert, Paul J. Coucke, Simona Villani, Björn Busse, Roberta Besio, Antonio Rossi, P. Eckhard Witten, Antonella Forlino
Front Endocrinol (Lausanne) 2023; 14: 1002914. Published online 2023 Jan 23. doi: 10.3389/fendo.2023.1002914
PMCID:
PMC9899828
AbstractArticlePDF–8.0M
16.
Lysosomal positioning diseases: beyond substrate storage
Gianluca Scerra, Valeria De Pasquale, Melania Scarcella, Maria Gabriella Caporaso, Luigi Michele Pavone, Massimo D'Agostino
Open Biol. 2022 Oct; 12(10): 220155. Published online October 26, 2022. doi: 10.1098/rsob.220155
PMCID:
PMC9597170
AbstractArticlePDF–1022K
17.
Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings
Shahad Alsheikh, Rizam Alghamdi, Ahlam Alqatari, Abdullah Alfareed, Mona AlSaleh
Am J Case Rep. 2022; 23: e937312-1–e937312-4. Published online 2022 Sep 18. doi: 10.12659/AJCR.937312
PMCID:
PMC9495817
AbstractArticlePDF–174K
18.
Serine Protease Inhibitors Restrict Host Susceptibility to SARS-CoV-2 Infections
Ebba Rosendal, Ionut Sebastian Mihai, Miriam Becker, Debojyoti Das, Lars Frängsmyr, B. David Persson, Gregory D. Rankin, Remigius Gröning, Johan Trygg, Mattias Forsell, Johan Ankarklev, Anders Blomberg, Johan Henriksson, Anna K. Överby, Annasara Lenman
mBio. 2022 May-Jun; 13(3): e00892-22. Published online 2022 May 9. doi: 10.1128/mbio.00892-22
PMCID:
PMC9239148
AbstractArticlePDF–2.3M
19.
Loss of phosphatidylinositol-4-phosphate 5-kinase type-1 gamma (Pip5k1c) in mesenchymal stem cells leads to osteopenia by impairing bone remodeling
Qinnan Yan, Huanqing Gao, Qing Yao, Kun Ling, Guozhi Xiao
J Biol Chem. 2022 Mar; 298(3): 101639. Published online 2022 Jan 25. doi: 10.1016/j.jbc.2022.101639
PMCID:
PMC8867119
AbstractArticlePDF–3.9M
20.
The mammalian trafficking chaperone protein UNC93B1 maintains the ER calcium sensor STIM1 in a dimeric state primed for translocation to the ER cortex
Wen-An Wang, Nicolas Demaurex
J Biol Chem. 2022 Mar; 298(3): 101607. Published online 2022 Jan 20. doi: 10.1016/j.jbc.2022.101607
PMCID:
PMC8857484
AbstractArticlePDF–2.4M

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