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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 98040432.

A marked enhancement of a BLOC‐1 gene, pallidin, associated with somnolent mouse models deficient in histamine transmission

Laurent Seugnet, Christelle Anaclet, Magali Perier, Jean‐François Ghersi‐Egea, Jian‐Sheng Lin

CNS Neurosci Ther. 2023 Jan; 29(1): 483–486. Published online 2022 Oct 18. doi: 10.1111/cns.13995

PMCID:: PMC9804043

Article PDF–1.2M

Select item 80202683.

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 76771684.

Sex-dimorphic effects of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1) deficiency on mouse perinatal brain development

Frank Y. Lee, Jennifer Larimore, Victor Faundez, Esteban C. Dell’Angelica, Cristina A. Ghiani

J Neurosci Res. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Neurosci Res. 2021 Jan; 99(1): 67–89. Published online 2020 May 20. doi: 10.1002/jnr.24620

PMCID:: PMC7677168

Abstract Article PDF–2.1M

Select item 75338805.

Hemostasis vs. homeostasis: Platelets are essential for preserving vascular barrier function in the absence of injury or inflammation

Shuchi Gupta, Christoph Konradt, Adam Corken, Jerry Ware, Bernhard Nieswandt, Jorge Di Paola, Mei Yu, Demin Wang, Marvin T. Nieman, Sidney W. Whiteheart, Lawrence F. Brass

Proc Natl Acad Sci U S A. 2020 Sep 29; 117(39): 24316–24325. Published online 2020 Sep 14. doi: 10.1073/pnas.2007642117

PMCID:: PMC7533880

Abstract Article PDF–2.4M

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 62494167.

Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency

Frank Y. Lee, Huei-Bin Wang, Olivia N. Hitchcock, Dawn Hsiao Loh, Daniel S. Whittaker, Yoon-Sik Kim, Achilles Aiken, Collette Kokikian, Esteban C. Dell’Angelica, Christopher S. Colwell, Cristina A. Ghiani

Front Neurosci. 2018; 12: 759. Published online 2018 Nov 15. doi: 10.3389/fnins.2018.00759

PMCID:: PMC6249416

Abstract Article PDF–1.5M

Select item 59463338.

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 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 569503810.

Interspecies Comparative Genomics Identifies Optimal Mouse Models of Systemic Sclerosis

Jennifer L. Sargent, Zhenghui Li, Antonios O. Aliprantis, Matthew Greenblatt, Raphael Lemaire, Ming-hua Wu, Jun Wei, Jaclyn Taroni, Adam Harris, Kristen B. Long, Chelsea Burgwin, Carol M. Artlett, Elizabeth P. Blankenhorn, Robert Lafyatis, John Varga, Stephen H. Clark, Michael L. Whitfield

Arthritis Rheumatol. Author manuscript; available in PMC 2017 Nov 20.

Published in final edited form as: Arthritis Rheumatol. 2016 Aug; 68(8): 2003–2015. doi: 10.1002/art.39658

PMCID:: PMC5695038

Abstract Article PDF–1.4M

Select item 567543111.

Targeting of cadherin-11 decreases skin fibrosis in the tight skin-1 mouse model

Mesias Pedroza, Robert L. Welschhans, Sandeep K. Agarwal

PLoS One. 2017; 12(11): e0187109. Published online 2017 Nov 7. doi: 10.1371/journal.pone.0187109

PMCID:: PMC5675431

Abstract Article PDF–14M

Select item 550789312.

BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus

S. M. van Liempd, D. Cabrera, F. Y. Lee, E. González, E. C. Dell’Angelica, C. A. Ghiani, J. M. Falcon-Perez

Sci Rep. 2017; 7: 5231. Published online 2017 Jul 12. doi: 10.1038/s41598-017-05465-z

PMCID:: PMC5507893

Abstract Article PDF–2.3M

Select item 549661913.

BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia

William J. Monis, Victor Faundez, Gregory J. Pazour

J Cell Biol. 2017 Jul 3; 216(7): 2131–2150. doi: 10.1083/jcb.201611138

PMCID:: PMC5496619

Abstract Article PDF–3.2M

Select item 534493214.

Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus

Jennifer Larimore, Stephanie A. Zlatic, Miranda Arnold, Kaela S. Singleton, Rebecca Cross, Hannah Rudolph, Martha V. Bruegge, Andrea Sweetman, Cecilia Garza, Eli Whisnant, Victor Faundez

Front Genet. 2017; 8: 28. Published online 2017 Mar 10. doi: 10.3389/fgene.2017.00028

PMCID:: PMC5344932

Abstract Article PDF–4.0M

Select item 519977115.

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 514822816.

The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse

Avanti Gokhale, Cortnie Hartwig, Amanda H. Freeman, Ravi Das, Stephanie A. Zlatic, Rachel Vistein, Amelia Burch, Guillemette Carrot, Arielle F. Lewis, Sheldon Nelms, Dion K. Dickman, Manojkumar A. Puthenveedu, Daniel N. Cox, Victor Faundez

J Neurosci. 2016 Dec 7; 36(49): 12393–12411. doi: 10.1523/JNEUROSCI.1321-16.2016

PMCID:: PMC5148228

Abstract Article PDF–5.7M

Select item 509485617.

BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development

Wenwen Zhou, Qiuping He, Chunxia Zhang, Xin He, Zongbin Cui, Feng Liu, Wei Li

eLife. 2016; 5: e18108. Published online 2016 Oct 10. doi: 10.7554/eLife.18108

PMCID:: PMC5094856

Abstract Article PDF–3.9M

Select item 497033118.

BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers

Megan K. Dennis, Cédric Delevoye, Amanda Acosta-Ruiz, Ilse Hurbain, Maryse Romao, Geoffrey G. Hesketh, Philip S. Goff, Elena V. Sviderskaya, Dorothy C. Bennett, J. Paul Luzio, Thierry Galli, David J. Owen, Graça Raposo, Michael S. Marks

J Cell Biol. 2016 Aug 1; 214(3): 293–308. doi: 10.1083/jcb.201605090

PMCID:: PMC4970331

Abstract Article PDF–3.7M

Select item 436991419.

Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice

Sang H. Min, Aae Suzuki, Timothy J. Stalker, Liang Zhao, Yuhuan Wang, Chris McKennan, Matthew J. Riese, Jessica F. Guzman, Suhong Zhang, Lurong Lian, Rohan Joshi, Ronghua Meng, Steven H. Seeholzer, John K. Choi, Gary Koretzky, Michael S. Marks, Charles S. Abrams

Nat Commun. Author manuscript; available in PMC 2015 Sep 2.

Published in final edited form as: Nat Commun. 2014; 5: 4691. Published online 2014 Sep 2. doi: 10.1038/ncomms5691

PMCID:: PMC4369914

Abstract Article PDF–2.3M

Select item 435150720.

Defective release of α granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models

Ronghua Meng, Jie Wu, Dawn C. Harper, Yuhuan Wang, M. Anna Kowalska, Charles S. Abrams, Lawrence F. Brass, Mortimer Poncz, Timothy J. Stalker, Michael S. Marks

Blood. 2015 Mar 5; 125(10): 1623–1632. Prepublished online 2014 Dec 4. doi: 10.1182/blood-2014-07-586727

PMCID:: PMC4351507

Abstract Article

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