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Select item 97169131.

Thromboxane–Prostanoid Receptor Signaling Drives Persistent Fibroblast Activation in Pulmonary Fibrosis

Toshio Suzuki, Jonathan A. Kropski, Jingyuan Chen, Erica J. Carrier, Xinping Chen, Taylor P. Sherrill, Nichelle I. Winters, Jane E. Camarata, Vasiliy V. Polosukhin, Wei Han, Anandharajan Rathinasabapathy, Sergey Gutor, Peter Gulleman, Carleen Sabusap, Nicholas E. Banovich, Harikrishna Tanjore, Michael L. Freeman, Yuji Tada, Lisa R. Young, Jason J. Gokey, Timothy S. Blackwell, James D. West

Am J Respir Crit Care Med. 2022 Sep 1; 206(5): 596–607. Published online 2022 Jun 28. doi: 10.1164/rccm.202106-1503OC

PMCID:: PMC9716913

Abstract Article PDF–2.3M

Select item 96648632.

Physiologically Based Pharmacokinetic Modeling To Guide Management of Drug Interactions between Elexacaftor-Tezacaftor-Ivacaftor and Antibiotics for the Treatment of Nontuberculous Mycobacteria

E. Hong, L. M. Almond, P. S. Chung, A. P. Rao, P. M. Beringer

Antimicrob Agents Chemother. 2022 Nov; 66(11): e01104-22. Published online 2022 Oct 26. doi: 10.1128/aac.01104-22

PMCID:: PMC9664863

Abstract Article PDF–2.0M

Select item 94889563.

Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease

Tadafumi Yokoyama, Bernadette R. Gochuico

Eur Respir Rev. 2021 Mar 31; 30(159): 200193. Published online 2021 Feb 3. doi: 10.1183/16000617.0193-2020

PMCID:: PMC9488956

Abstract Article PDF–701K

Select item 92299124.

Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility

Jewel Imani, Steven P. M. Bodine, Anthony M. Lamattina, Diane D. Ma, Shikshya Shrestha, Dawn M. Maynard, Kevin Bishop, Arinze Nwokeji, May Christine V. Malicdan, Lauren C. Testa, Raman Sood, Benjamin Stump, Ivan O. Rosas, Mark A. Perrella, Robert Handin, Lisa R. Young, Bernadette R. Gochuico, Souheil El-Chemaly

Respir Res. 2022; 23: 167. Published online 2022 Jun 23. doi: 10.1186/s12931-022-02083-w

PMCID:: PMC9229912

Abstract Article PDF–2.9M

Select item 90669315.

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan

Respir Res. 2022; 23: 112. Published online 2022 May 4. doi: 10.1186/s12931-022-02002-z

PMCID:: PMC9066931

Abstract Article PDF–2.2M

Select item 87999436.

Transcriptome profiling identifies immune response genes against porcine reproductive and respiratory syndrome virus and Haemophilus parasuis co-infection in the lungs of piglets

Jing Zhang, Jing Wang, Xiong Zhang, Chunping Zhao, Sixuan Zhou, Chunlin Du, Ya Tan, Yu Zhang, Kaizhi Shi

J Vet Sci. 2022 Jan; 23(1): e2. Published online 2021 Nov 16. doi: 10.4142/jvs.21139

PMCID:: PMC8799943

Abstract Article PDF–9.2M

Select item 85596247.

A novel likely pathogenic variant in a patient with Hermansky–Pudlak syndrome

Lisa A. Lansdon, Dong Chen, Eric T. Rush, Kendra Engleman, Lei Zhang, Carol J. Saunders, Gabor Oroszi

Cold Spring Harb Mol Case Stud. 2021 Oct; 7(5): a006110. doi: 10.1101/mcs.a006110

PMCID:: PMC8559624

Abstract Article PDF–1.5M

Select item 85338638.

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger

Cells. 2021 Oct; 10(10): 2630. Published online 2021 Oct 1. doi: 10.3390/cells10102630

PMCID:: PMC8533863

Abstract Article PDF–742K

Select item 84873929.

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Zhao-Xia Wang, Yi-Hui Liu, Yi Dong, Ya-Li Li, Tie-Yu Tang, Liang-Liang Fan

Biomed Res Int. 2021; 2021: 4535349. Published online 2021 Sep 24. doi: 10.1155/2021/4535349

PMCID:: PMC8487392

Abstract Article PDF–1.0M

Select item 836981310.

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5

Amanda Helip-Wooley, Wendy Westbroek, Heidi M. Dorward, Amy Koshoffer, Marjan Huizing, Raymond E. Boissy, William A. Gahl

J Invest Dermatol. Author manuscript; available in PMC 2021 Aug 17.

Published in final edited form as: J Invest Dermatol. 2007 Jun; 127(6): 1471–1478. Published online 2007 Feb 15. doi: 10.1038/sj.jid.5700737

PMCID:: PMC8369813

Abstract Article PDF–1.2M

Select item 835655611.

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases

Oliver J McElvaney, Marjan Huizing, William A Gahl, Paul O’Donovan, Deirdre Horan, P Mark Logan, Emer P Reeves, Noel G McElvaney

Thorax. Author manuscript; available in PMC 2021 Aug 11.

Published in final edited form as: Thorax. 2018 Nov; 73(11): 1085–1088. Published online 2018 Jun 25. doi: 10.1136/thoraxjnl-2018-211920

PMCID:: PMC8356556

Abstract Article PDF–332K

Select item 833619812.

Gene of the issue: Genetic Variants Associated with Hermansky-Pudlak Syndrome

Melissa A. Merideth, Wendy J. Introne, Jennifer Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico

Platelets. Author manuscript; available in PMC 2021 Aug 4.

Published in final edited form as: Platelets. 2020 May 18; 31(4): 544–547. Published online 2019 Sep 5. doi: 10.1080/09537104.2019.1663810

PMCID:: PMC8336198

Article PDF–387K

Select item 817507613.

Hermansky-Pudlak Syndrome: Mutation Update

Marjan Huizing, May Christine V. Malicdan, Jennifer A. Wang, Hadass Pri-Chen, Richard A. Hess, Roxanne Fischer, Kevin J. O’Brien, Melissa A. Merideth, William A. Gahl, Bernadette R. Gochuico

Hum Mutat. Author manuscript; available in PMC 2021 Jun 3.

Published in final edited form as: Hum Mutat. 2020 Mar; 41(3): 543–580. Published online 2020 Jan 23. doi: 10.1002/humu.23968

PMCID:: PMC8175076

Abstract Article PDF–1.9M

Select item 787159014.

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung

Karina Cuevas-Mora, Willy Roque, Hoora Shaghaghi, Bernadette R. Gochuico, Ivan O. Rosas, Ross Summer, Freddy Romero

Respir Res. 2021; 22: 49. Published online 2021 Feb 8. doi: 10.1186/s12931-021-01640-z

PMCID:: PMC7871590

Abstract Article PDF–2.0M

Select item 683125315.

A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China

Wenjuan Wu, Keqin Lin, Yanni Yang, ZhaoXing Dong, Tao Zhang, Wen Lei, Weimin Yang, Zhaoqing Yang

Medicine (Baltimore) 2019 Aug; 98(33): e16899. Published online 2019 Aug 16. doi: 10.1097/MD.0000000000016899

PMCID:: PMC6831253

Abstract Article PDF–551K

Select item 679475516.

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová, Anna Hrazdirová, Ivona Blaháková, Lenka Radová, Šárka Pospíšilová, Michael Doubek

BMC Pulm Med. 2019; 19: 178. Published online 2019 Oct 16. doi: 10.1186/s12890-019-0941-4

PMCID:: PMC6794755

Abstract Article PDF–1.9M

Select item 661094617.

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 659440118.

Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells

Alexandros Strikoudis, Anna Cieślak, Lucas Loffredo, Ya-Wen Chen, Nina Patel, Anjali Saqi, David J. Lederer, Hans-Willem Snoeck

Cell Rep. Author manuscript; available in PMC 2019 Jun 26.

Published in final edited form as: Cell Rep. 2019 Jun 18; 27(12): 3709–3723.e5. doi: 10.1016/j.celrep.2019.05.077

PMCID:: PMC6594401

Abstract Article PDF–3.7M

Select item 654510819.

Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series

DR. Joel Rivera-Concepción, Jorge Acevedo-Canabal, Antonio Burés, Gustavo Vargas, Carmen Cadilla, Natalio J. Izquierdo

Eur J Haematol. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Eur J Haematol. 2019 May; 102(5): 432–436. Published online 2019 Mar 6. doi: 10.1111/ejh.13210

PMCID:: PMC6545108

Article PDF–68K

Select item 579773720.

The Immunome in Two Inherited Forms of Pulmonary Fibrosis

Souheil El-Chemaly, Foo Cheung, Yuri Kotliarov, Kevin J. O’Brien, William A. Gahl, Jinguo Chen, Shira Y. Perl, Angélique Biancotto, Bernadette R. Gochuico

Front Immunol. 2018; 9: 76. Published online 2018 Jan 31. doi: 10.3389/fimmu.2018.00076

PMCID:: PMC5797737

Abstract Article PDF–4.7M

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