PMC Articles for MedGen (Select 543936) - PMC

Marta Garrote, Mónica López-Guerra, Juan Carlos García-Pagán, Eduardo Arellano-Rodrigo, Francisca Ferrer-Marín, Juan Carlos Hernández-Boluda, Beatriz Bellosillo, Meritxell Nomdedeu, Virginia Hernández-Gea, Ana Triguero, Francesca Guijarro, José Álamo, Anna Baiges, Fanny Turon, Dolors Colomer, Francisco Cervantes, Alberto Alvarez-Larrán

Ann Hematol. 2024; 103(3): 737–747. Published online 2024 Jan 24. doi: 10.1007/s00277-023-05610-x

PMCID:: PMC10866782

Abstract Article PDF–1.1M

Select item 102127034.

Ex vivo factor VIII‐modified proliferating human hepatocytes therapy for haemophilia A

Kun Zhang, Ning Wu, Jing Cen, Jie Li, Zhen Wang, Qiang Xia, Lijian Hui

Cell Prolif. 2023 May; 56(5): e13467. Published online 2023 May 17. doi: 10.1111/cpr.13467

PMCID:: PMC10212703

Abstract Article PDF–5.6M

Select item 101131495.

Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor

Elena Barbon, Charlotte Kawecki, Solenne Marmier, Aboud Sakkal, Fanny Collaud, Severine Charles, Giuseppe Ronzitti, Caterina Casari, Olivier D. Christophe, Cécile V. Denis, Peter J. Lenting, Federico Mingozzi

Gene Ther. 2023; 30(3-4): 245–254. Published online 2021 Jan 17. doi: 10.1038/s41434-020-00218-6

PMCID:: PMC10113149

Abstract Article PDF–1.9M

Select item 98734056.

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, Mary Elizabeth Tessier, John Goss, Luis A. Fernandez, Anthony M. D'Alessandro, Jessica Scott Schwoerer, Gregory M. Rice, Sarah H. Elsea, Fernando Scaglia

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 24.

Published in final edited form as: Am J Med Genet A. 2019 Jun; 179(6): 1015–1019. Published online 2019 Mar 12. doi: 10.1002/ajmg.a.61104

PMCID:: PMC9873405

Abstract Article PDF–308K

Select item 98699437.

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane

Hepatology. 2023 Feb; 77(2): 501–511. Published online 2022 Sep 3. doi: 10.1002/hep.32735

PMCID:: PMC9869943

Abstract Article PDF–2.0M

Select item 97340808.

Ectopic clotting factor VIII expression and misfolding in hepatocytes as a cause for hepatocellular carcinoma

Audrey Kapelanski-Lamoureux, Zhouji Chen, Zu-Hua Gao, Ruishu Deng, Anthoula Lazaris, Cynthia Lebeaupin, Lisa Giles, Jyoti Malhotra, Jing Yong, Chenhui Zou, Ype P. de Jong, Peter Metrakos, Roland W. Herzog, Randal J. Kaufman

Mol Ther. 2022 Dec 7; 30(12): 3542–3551. Published online 2022 Oct 14. doi: 10.1016/j.ymthe.2022.10.004

PMCID:: PMC9734080

Abstract Article PDF–2.3M

Select item 97018439.

Congenital coagulation factor V deficiency with intracranial hemorrhage

Jingjing Yang, Hongli Mao, Li Sun

J Clin Lab Anal. 2022 Nov; 36(11): e24705. Published online 2022 Sep 20. doi: 10.1002/jcla.24705

PMCID:: PMC9701843

Abstract Article PDF–844K

Select item 970073410.

Low-dose AAV-CRISPR-mediated liver-specific knock-in restored hemostasis in neonatal hemophilia B mice with subtle antibody response

Xiangjun He, Zhenjie Zhang, Junyi Xue, Yaofeng Wang, Siqi Zhang, Junkang Wei, Chenzi Zhang, Jue Wang, Brian Anugerah Urip, Chun Christopher Ngan, Junjiang Sun, Yuefeng Li, Zhiqian Lu, Hui Zhao, Duanqing Pei, Chi-Kong Li, Bo Feng

Nat Commun. 2022; 13: 7275. Published online 2022 Nov 25. doi: 10.1038/s41467-022-34898-y

PMCID:: PMC9700734

Abstract Article PDF–4.1M

Select item 966915211.

Elimination of fibrin polymer formation or crosslinking, but not fibrinogen deficiency, is protective against diet-induced obesity and associated pathologies

Woosuk S. Hur, Katharine C. King, Yesha N. Patel, Y-Van Nguyen, Zimu Wei, Yi Yang, Lih Jiin Juang, Jerry Leung, Christian J. Kastrup, Alisa S Wolberg, James P Luyendyk, Matthew J. Flick

J Thromb Haemost. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: J Thromb Haemost. 2022 Dec; 20(12): 2873–2886. Published online 2022 Oct 11. doi: 10.1111/jth.15877

PMCID:: PMC9669152

Abstract Article PDF–2.4M

Select item 963157312.

Transcutaneous ultrasound-mediated gene delivery into canine livers achieves therapeutic levels of factor VIII expression

Megan A. Manson, Feng Zhang, Alexander Novokhodko, Chun-Yu Chen, Maura Parker, Keith R. Loeb, Masaki Kajimoto, Carley Campbell, Rainer F. Storb, Carol H. Miao

Blood Adv. 2022 Jun 28; 6(12): 3557–3568. Published online 2022 Jun 17. doi: 10.1182/bloodadvances.2021006016

PMCID:: PMC9631573

Abstract Article PDF–2.1M

Select item 929962813.

In vitro recovery of FIX clotting activity as a marker of highly functional hepatocytes in a hemophilia B iPSC model

Eléanor Luce, Clara Steichen, Mickaël Allouche, Antonietta Messina, Jean‐Marie Heslan, Thierry Lambert, Anne Weber, Tuan Huy Nguyen, Olivier Christophe, Anne Dubart‐Kupperschmitt

Hepatology. 2022 Apr; 75(4): 866–880. Published online 2021 Dec 12. doi: 10.1002/hep.32211

PMCID:: PMC9299628

Abstract Article PDF–2.2M

Select item 917381814.

Caspase-4/11 exacerbates disease severity in SARS–CoV-2 infection by promoting inflammation and immunothrombosis

Mostafa M. Eltobgy, Ashley Zani, Adam D. Kenney, Shady Estfanous, Eunsoo Kim, Asmaa Badr, Cierra Carafice, Kylene Daily, Owen Whitham, Maciej Pietrzak, Amy Webb, Jeffrey Kawahara, Adrian C. Eddy, Parker Denz, Mijia Lu, KC Mahesh, Mark E. Peeples, Jianrong Li, Jian Zhu, Jianwen Que, Richard Robinson, Oscar Rosas Mejia, Rachael E. Rayner, Luanne Hall-Stoodley, Stephanie Seveau, Mikhail A. Gavrilin, Xiaoli Zhang, Jeronay Thomas, Jacob E. Kohlmeier, Mehul S. Suthar, Eugene Oltz, Andrea Tedeschi, Frank H. Robledo-Avila, Santiago Partida-Sanchez, Emily A. Hemann, Eman Abdelrazik, Adriana Forero, Shahid M. Nimjee, Prosper N. Boyaka, Estelle Cormet-Boyaka, Jacob S. Yount, Amal O. Amer

Proc Natl Acad Sci U S A. 2022 May 24; 119(21): e2202012119. Published online 2022 May 19. doi: 10.1073/pnas.2202012119

PMCID:: PMC9173818

Abstract Article PDF–3.5M

Select item 878245015.

In vivo delivery of CRISPR-Cas9 using lipid nanoparticles enables antithrombin gene editing for sustainable hemophilia A and B therapy

Jeong Pil Han, MinJeong Kim, Beom Seok Choi, Jeong Hyeon Lee, Geon Seong Lee, Michaela Jeong, Yeji Lee, Eun-Ah Kim, Hye-Kyung Oh, Nanyeong Go, Hyerim Lee, Kyu Jun Lee, Un Gi Kim, Jae Young Lee, Seokjoong Kim, Jun Chang, Hyukjin Lee, Dong Woo Song, Su Cheong Yeom

Sci Adv. 2022 Jan; 8(3): eabj6901. Published online 2022 Jan 21. doi: 10.1126/sciadv.abj6901

PMCID:: PMC8782450

Abstract Article PDF–2.1M

Select item 871480316.

Differential Co-Expression Network Analysis Reveals Key Hub-High Traffic Genes as Potential Therapeutic Targets for COVID-19 Pandemic

Aliakbar Hasankhani, Abolfazl Bahrami, Negin Sheybani, Behzad Aria, Behzad Hemati, Farhang Fatehi, Hamid Ghaem Maghami Farahani, Ghazaleh Javanmard, Mahsa Rezaee, John P. Kastelic, Herman W. Barkema

Front Immunol. 2021; 12: 789317. Published online 2021 Dec 15. doi: 10.3389/fimmu.2021.789317

PMCID:: PMC8714803

Abstract Article PDF–6.1M

Select item 861969517.

Protein Misfolding and Aggregation: The Relatedness between Parkinson’s Disease and Hepatic Endoplasmic Reticulum Storage Disorders

Francisco J. Padilla-Godínez, Rodrigo Ramos-Acevedo, Hilda Angélica Martínez-Becerril, Luis D. Bernal-Conde, Jerónimo F. Garrido-Figueroa, Marcia Hiriart, Adriana Hernández-López, Rubén Argüero-Sánchez, Francesco Callea, Magdalena Guerra-Crespo

Int J Mol Sci. 2021 Nov; 22(22): 12467. Published online 2021 Nov 18. doi: 10.3390/ijms222212467

PMCID:: PMC8619695

Abstract Article PDF–2.7M

Select item 846549618.

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras

Int J Mol Sci. 2021 Sep; 22(18): 9705. Published online 2021 Sep 8. doi: 10.3390/ijms22189705

PMCID:: PMC8465496

Abstract Article PDF–2.3M

Select item 819876719.

Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases

Francesco Callea, Paola Francalanci, Isabella Giovannoni

Int J Mol Sci. 2021 Jun; 22(11): 5778. Published online 2021 May 28. doi: 10.3390/ijms22115778

PMCID:: PMC8198767

Abstract Article PDF–10M

Select item 819290420.

MiR-124 and miR-506 are involved in the decline of protein C in children with extra-hepatic portal vein obstruction

Jin-Shan Zhang, Long Li

Sci Rep. 2021; 11: 12320. Published online 2021 Jun 10. doi: 10.1038/s41598-021-91862-4

PMCID:: PMC8192904

Abstract Article PDF–2.1M

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