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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 80202682.

A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules

Yefeng Yuan, Teng Liu, Xiahe Huang, Yuanying Chen, Weilin Zhang, Ting Li, Lin Yang, Quan Chen, Yingchun Wang, Aihua Wei, Wei Li

Blood. 2021 Apr 1; 137(13): 1804–1817. Prepublished online 2021 Jan 29. doi: 10.1182/blood.2020007389

PMCID:: PMC8020268

Abstract Article

Select item 76745563.

HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells

Jiaying Yu, Xin He, Aihua Wei, Teng Liu, Qin Zhang, Ying Pan, Zhenhua Hao, Lin Yang, Yefeng Yuan, Zhao Zhang, Chang Zhang, Chanjuan Hao, Zhihua Liu, Wei Li

Front Immunol. 2020; 11: 560110. Published online 2020 Nov 5. doi: 10.3389/fimmu.2020.560110

PMCID:: PMC7674556

Abstract Article PDF–4.5M

Select item 74159914.

BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)

Kou Motani, Hidetaka Kosako

J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323

PMCID:: PMC7415991

Abstract Article PDF–2.0M

Select item 66109465.

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome

Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero

Orphanet J Rare Dis. 2019; 14: 162. Published online 2019 Jul 4. doi: 10.1186/s13023-019-1143-0

PMCID:: PMC6610946

Abstract Article PDF–2.1M

Select item 63795726.

Plasma lipidomic profiling in murine mutants of Hermansky–Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids

Jing Ma, Raoxu Wang, Sin Man Lam, Chang Zhang, Guanghou Shui, Wei Li

Biosci Rep. 2019 Feb 28; 39(2): BSR20182339. Prepublished online 2019 Feb 1. Published online 2019 Feb 19. doi: 10.1042/BSR20182339

PMCID:: PMC6379572

Abstract Article PDF–1.4M

Select item 59463337.

Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes

Seunghyi Kook, Aidong Qi, Ping Wang, Shufang Meng, Peter Gulleman, Lisa R. Young, Susan H. Guttentag

Am J Respir Cell Mol Biol. 2018 May; 58(5): 566–574. doi: 10.1165/rcmb.2017-0324MA

PMCID:: PMC5946333

Abstract Article PDF–1.1M

Select item 58399998.

Galectin-3 interacts with the CHI3L1 axis and contributes to Hermansky-Pudlak Syndrome Lung Disease

Yang Zhou, Chuan Hua He, Daniel Yang, Tung Nguyen, Yueming Cao, Suchitra Kamle, Chang-min Lee, Bernadette R. Gochuico, William A. Gahl, Barry S. Shea, Chun Geun Lee, Jack A. Elias

J Immunol. Author manuscript; available in PMC 2019 Mar 15.

Published in final edited form as: J Immunol. 2018 Mar 15; 200(6): 2140–2153. Published online 2018 Feb 2. doi: 10.4049/jimmunol.1701442

PMCID:: PMC5839999

Abstract Article PDF–1.9M

Select item 57742069.

Ferritin is secreted via 2 distinct nonclassical vesicular pathways

Marianna Truman-Rosentsvit, Dina Berenbaum, Lior Spektor, Lyora A. Cohen, Shirly Belizowsky-Moshe, Lena Lifshitz, Jing Ma, Wei Li, Ellina Kesselman, Inbal Abutbul-Ionita, Dganit Danino, Lucia Gutierrez, Huihui Li, Kuanyu Li, Huifang Lou, Maria Regoni, Maura Poli, Fabian Glaser, Tracey A. Rouault, Esther G. Meyron-Holtz

Blood. 2018 Jan 18; 131(3): 342–352. Prepublished online 2017 Oct 26. doi: 10.1182/blood-2017-02-768580

PMCID:: PMC5774206

Abstract Article

Select item 519977110.

BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells

Jing Ma, Zhe Zhang, Lin Yang, Janos Kriston-Vizi, Daniel F. Cutler, Wei Li

J Genet Genomics. 2016 Dec 20; 43(12): 686–693. doi: 10.1016/j.jgg.2016.09.007

PMCID:: PMC5199771

Abstract Article

Select item 507095511.

Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome

Lisa R. Young, Peter M. Gulleman, Chelsi W. Short, Harikrishna Tanjore, Taylor Sherrill, Aidong Qi, Andrew P. McBride, Rinat Zaynagetdinov, John T. Benjamin, William E. Lawson, Sergey V. Novitskiy, Timothy S. Blackwell

JCI Insight. 2016 Oct 20; 1(17): e88947. Published online 2016 Oct 20. doi: 10.1172/jci.insight.88947

PMCID:: PMC5070955

Abstract Article PDF–1.6M

Select item 488855412.

MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro

Saket Ahuja, Lars Knudsen, Shashi Chillappagari, Ingrid Henneke, Clemens Ruppert, Martina Korfei, Bernadette R. Gochuico, Saverio Bellusci, Werner Seeger, Matthias Ochs, Andreas Guenther, Poornima Mahavadi

Am J Physiol Lung Cell Mol Physiol. 2016 Mar 15; 310(6): L519–L531. Published online 2015 Dec 30. doi: 10.1152/ajplung.00213.2015

PMCID:: PMC4888554

Abstract Article

Select item 456374713.

Chitinase 3–like–1 and its receptors in Hermansky-Pudlak syndrome–associated lung disease

Yang Zhou, Chuan Hua He, Erica L. Herzog, Xueyan Peng, Chang-Min Lee, Tung H. Nguyen, Mridu Gulati, Bernadette R. Gochuico, William A. Gahl, Martin L. Slade, Chun Geun Lee, Jack A. Elias

J Clin Invest. 2015 Aug 3; 125(8): 3178–3192. Published online 2015 Jun 29. doi: 10.1172/JCI79792

PMCID:: PMC4563747

Abstract Article PDF–2.8M

Select item 448439214.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Heather Fairfield, Anuj Srivastava, Guruprasad Ananda, Rangjiao Liu, Martin Kircher, Anuradha Lakshminarayana, Belinda S. Harris, Son Yong Karst, Louise A. Dionne, Coleen C. Kane, Michelle Curtain, Melissa L. Berry, Patricia F. Ward-Bailey, Ian Greenstein, Candice Byers, Anne Czechanski, Jocelyn Sharp, Kristina Palmer, Polyxeni Gudis, Whitney Martin, Abby Tadenev, Laurent Bogdanik, C. Herbert Pratt, Bo Chang, David G. Schroeder, Gregory A. Cox, Paul Cliften, Jeffrey Milbrandt, Stephen Murray, Robert Burgess, David E. Bergstrom, Leah Rae Donahue, Hanan Hamamy, Amira Masri, Federico A. Santoni, Periklis Makrythanasis, Stylianos E. Antonarakis, Jay Shendure, Laura G. Reinholdt

Genome Res. 2015 Jul; 25(7): 948–957. doi: 10.1101/gr.186882.114

PMCID:: PMC4484392

Abstract Article PDF–604K

Select item 422295315.

Regulation of mRNA Abundance by Polypyrimidine Tract-Binding Protein-Controlled Alternate 5′ Splice Site Choice

Fursham M. Hamid, Eugene V. Makeyev

PLoS Genet. 2014 Nov; 10(11): e1004771. Published online 2014 Nov 6. doi: 10.1371/journal.pgen.1004771

PMCID:: PMC4222953

Abstract Article PDF–1.3M

Select item 378365516.

Lung-Restricted Macrophage Activation in the Pearl Mouse Model of Hermansky-Pudlak Syndrome

Lisa R. Young, Michael T. Borchers, Holly L. Allen, Reta S. Gibbons, Francis X. McCormack

J Immunol. Author manuscript; available in PMC 2013 Sep 26.

Published in final edited form as: J Immunol. 2006 Apr 1; 176(7): 4361–4368. doi: 10.4049/jimmunol.176.7.4361

PMCID:: PMC3783655

Abstract Article PDF–1.2M

Select item 357241017.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 353021118.

The Alveolar Epithelium Determines Susceptibility to Lung Fibrosis in Hermansky-Pudlak Syndrome

Lisa R. Young, Peter M. Gulleman, James P. Bridges, Timothy E. Weaver, Gail H. Deutsch, Timothy S. Blackwell, Francis X. McCormack

Am J Respir Crit Care Med. 2012 Nov 15; 186(10): 1014–1024. Published online 2012 Nov 15. doi: 10.1164/rccm.201207-1206OC

PMCID:: PMC3530211

Abstract Article PDF–1.6M

Select item 351337219.

Organelle biogenesis: En BLOC exchange for RAB32 and RAB38

Michael S. Marks

Curr Biol. Author manuscript; available in PMC 2013 Nov 20.

Published in final edited form as: Curr Biol. 2012 Nov 20; 22(22): R963–R965. doi: 10.1016/j.cub.2012.10.005

PMCID:: PMC3513372

Abstract Article PDF–288K

Select item 347942920.

Distinct gene loci control the host response to influenza H1N1 virus infection in a time-dependent manner

Tatiana Nedelko, Heike Kollmus, Frank Klawonn, Sabine Spijker, Lu Lu, Manuela Heßman, Rudi Alberts, Robert W Williams, Klaus Schughart

BMC Genomics. 2012; 13: 411. Published online 2012 Aug 20. doi: 10.1186/1471-2164-13-411

PMCID:: PMC3479429

Abstract Article PDF–1.9M

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