PMC Links for GEO Profiles (Select 121670564) - PMC

Yang Cao, Yuchen Wang, Zhenqi Zhou, Calvin Pan, Ling Jiang, Zhiqiang Zhou, Yonghong Meng, Sarada Charugundla, Tao Li, Hooman Allayee, Marcus M. Seldin, Aldons J. Lusis

Science. Author manuscript; available in PMC 2022 Nov 7.

Published in final edited form as: Science. 2022 Sep 23; 377(6613): 1399–1406. Published online 2022 Sep 22. doi: 10.1126/science.abn0910

PMCID:: PMC9639660

Abstract Article PDF–1.9M

Select item 95973844.

Evolutionary trajectory of receptor binding specificity and promiscuity of the spike protein of SARS‐CoV‐2

Cyril Planchais, Alejandra Reyes‐Ruiz, Robin Lacombe, Alessandra Zarantonello, Maxime Lecerf, Margot Revel, Lubka T. Roumenina, Boris P. Atanasov, Hugo Mouquet, Jordan D. Dimitrov

Protein Sci. 2022 Nov; 31(11): e4447. Published online 2022 Oct 26. doi: 10.1002/pro.4447

PMCID:: PMC9597384

Abstract Article PDF–5.4M

Select item 92983545.

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

Abstract Article PDF–2.1M

Select item 89111216.

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

Abstract Article PDF–1.9M

Select item 88583217.

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

Abstract Article PDF–4.4M

Select item 86102498.

Sensitivity analysis of a reduced model of thrombosis under flow: Roles of Factor IX, Factor XI, and γ‘-Fibrin

Jason Chen, Scott L. Diamond

PLoS One. 2021; 16(11): e0260366. Published online 2021 Nov 23. doi: 10.1371/journal.pone.0260366

PMCID:: PMC8610249

Abstract Article PDF–3.0M

Select item 85944929.

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

Abstract Article PDF–2.0M

Select item 824375110.

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

Abstract Article PDF–690K

Select item 816503011.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 786837012.

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers

Isabella Garagiola, Mimosa Mortarino, Simona Maria Siboni, Marco Boscarino, Maria Elisa Mancuso, Marina Biganzoli, Elena Santagostino, Flora Peyvandi

Eur J Hum Genet. 2021 Feb; 29(2): 241–249. Published online 2020 Oct 20. doi: 10.1038/s41431-020-00742-4

PMCID:: PMC7868370

Abstract Article PDF–579K

Select item 782633613.

Kallikrein directly interacts with and activates Factor IX, resulting in thrombin generation and fibrin formation independent of Factor XI

Katherine J. Kearney, Juliet Butler, Olga M. Posada, Clare Wilson, Samantha Heal, Majid Ali, Lewis Hardy, Josefin Ahnström, David Gailani, Richard Foster, Emma Hethershaw, Colin Longstaff, Helen Philippou

Proc Natl Acad Sci U S A. 2021 Jan 19; 118(3): e2014810118. Published online 2021 Jan 28. doi: 10.1073/pnas.2014810118

PMCID:: PMC7826336

Abstract Article PDF–1.6M

Select item 781041214.

Evaluating the potential benefits of the extravascular pool of factor IX

David Lillicrap

Blood Coagul Fibrinolysis. 2021 Jan; 32(1): 68–69. Published online 2021 Nov 23. doi: 10.1097/MBC.0000000000000969

PMCID:: PMC7810412

Article PDF–72K

Select item 775626015.

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Nadine G. Andersson, Veerle Labarque, Anna Letelier, Maria Elisa Mancuso, Martina Bührlen, Kathelijn Fischer, Mutlu Kartal‐Kaess, Minna Koskenvuo, Torben Mikkelsen, Rolf Ljung, PedNet study group

Hum Mutat. 2020 Dec; 41(12): 2058–2072. Published online 2020 Oct 14. doi: 10.1002/humu.24117

PMCID:: PMC7756260

Abstract Article PDF–715K

Select item 742211716.

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

Abstract Article PDF–1.1M

Select item 721680317.

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

Abstract Article PDF–462K

Select item 707181318.

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

Abstract Article PDF–898K

Select item 678355419.

Hemophilia A and B mice, but not VWF^−/−mice, display bone defects in congenital development and remodeling after injury

Sarah Taves, Junjiang Sun, Eric W. Livingston, Xin Chen, Jerome Amiaud, Regis Brion, William B. Hannah, Ted A. Bateman, Dominique Heymann, Paul E. Monahan

Sci Rep. 2019; 9: 14428. Published online 2019 Oct 8. doi: 10.1038/s41598-019-50787-9

PMCID:: PMC6783554

Abstract Article PDF–4.0M

Select item 668766220.

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

Abstract Article PDF–927K

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