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Items: 1 to 20 of 29

1.
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome.
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoit Arveiler
Genet Med. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Genet Med. 2020 Oct; 22(10): 1613–1622. Published online 2020 Jun 22. doi: 10.1038/s41436-020-0867-5
PMCID:
PMC7529931
ArticlePubReaderPDF–1.5MCite
2.
Expression Analysis of Outer Membrane Protein HPS_06257 in Different Strains of Glaesserella parasuis and Its Potential Role in Protective Immune Response against HPS_06257-Expressing Strains via Antibody-Dependent Phagocytosis
Xiaojun Chen, Hanye Shi, Xingyu Cheng, Xiaoxu Wang, Zongjie Li, Donghua Shao, Ke Liu, Jianchao Wei, Beibei Li, Jian Wang, Bin Zhou, Zhiyong Ma, Yafeng Qiu
Vet Sci. 2022 Jul; 9(7): 342. Published online 2022 Jul 6. doi: 10.3390/vetsci9070342
PMCID:
PMC9316402
ArticlePubReaderPDF–1.4MCite
3.
Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
Qaiser Zaman, Sadeeda, Muhammad Anas, Gauhar Rehman, Qadeem Khan, Aiman Iftikhar, Mashal Ahmad, Muhammad Owais, Ilyas Ahmad, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Fehmida Bibi, Musharraf Jelani, Muhammad Imran Naseer
Genes (Basel) 2023 Jan; 14(1): 145. Published online 2023 Jan 5. doi: 10.3390/genes14010145
PMCID:
PMC9858993
ArticlePubReaderPDF–2.4MCite
4.
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study
Helen J Kuht, Gail DE Maconachie, Jinu Han, Line Kessel, Maria M van Genderen, Rebecca J McLean, Michael Hisaund, Zhanhan Tu, Richard W Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K Chen, Rachael C Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C Engle, Frank A Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G Thomas
Ophthalmology. Author manuscript; available in PMC 2023 Jun 1.
Published in final edited form as: Ophthalmology. 2022 Jun; 129(6): 708–718. Published online 2022 Feb 11. doi: 10.1016/j.ophtha.2022.02.010
PMCID:
PMC9341240
ArticlePubReaderPDF–816KCite
5.
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
ArticlePubReaderPDF–1.5MCite
6.
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
ArticlePubReaderPDF–742KCite
7.
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
ArticlePubReaderPDF–1.0MCite
8.
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
ArticlePubReaderPDF–332KCite
9.
CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome
Resat Cinar, Joshua K. Park, Charles N. Zawatsky, Nathan J. Coffey, Steven P. Bodine, Jasmina Abdalla, Tadafumi Yokoyama, Tony Jourdan, Lindsey Jay, Mei Xing G. Zuo, Kevin J. O'Brien, Junfeng Huang, Ken Mackie, Asaf Alimardanov, Malliga R. Iyer, William A. Gahl, George Kunos, Bernadette R. Gochuico, May Christine V. Malicdan
Clin Transl Med. 2021 Jul; 11(7): e471. Published online 2021 Jul 4. doi: 10.1002/ctm2.471
PMCID:
PMC8255071
ArticlePubReaderPDF–11MCite
10.
Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3
Sarah Kiener, Alexandra Kehl, Robert Loechel, Ines Langbein-Detsch, Elisabeth Müller, Danika Bannasch, Vidhya Jagannathan, Tosso Leeb
Genes (Basel) 2020 Jun; 11(6): 636. Published online 2020 Jun 9. doi: 10.3390/genes11060636
PMCID:
PMC7349258
ArticlePubReaderPDF–843KCite
11.
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
ArticlePubReaderPDF–3.7MCite
12.
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
ArticlePubReaderPDF–68KCite
13.
Predictable and precise template-free CRISPR editing of pathogenic variants
Max W. Shen, Mandana Arbab, Jonathan Y. Hsu, Daniel Worstell, Sannie J. Culbertson, Olga Krabbe, Christopher A. Cassa, David R. Liu, David K. Gifford, Richard I. Sherwood
Nature. Author manuscript; available in PMC 2019 May 14.
Published in final edited form as: Nature. 2018 Nov; 563(7733): 646–651. Published online 2018 Nov 7. doi: 10.1038/s41586-018-0686-x
Correction in:
volume 567 on page E1
PMCID:
PMC6517069
ArticlePubReaderPDF–4.1MCite
14.
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report
Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita
BMC Gastroenterol. 2019; 19: 9. Published online 2019 Jan 11. doi: 10.1186/s12876-019-0929-9
PMCID:
PMC6329123
ArticlePubReaderPDF–4.0MCite
15.
Exogenous gene transfer of Rab38 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
Respir Res. 2017; 18: 70. Published online 2017 Apr 24. doi: 10.1186/s12931-017-0549-2
PMCID:
PMC5402648
ArticlePubReaderPDF–2.3MCite
16.
Prevalence and characteristics of central nervous system involvement by chronic lymphocytic leukemia
Paolo Strati, Joon H. Uhm, Timothy J. Kaufmann, Chadi Nabhan, Sameer A. Parikh, Curtis A. Hanson, Kari G. Chaffee, Timothy G. Call, Tait D. Shanafelt
Haematologica. 2016 Apr; 101(4): 458–465. doi: 10.3324/haematol.2015.136556
PMCID:
PMC5004406
ArticlePubReaderCite
17.
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis
Arnold S. Kirshenbaum, Glenn Cruse, Avanti Desai, Geethani Bandara, Maarten Leerkes, Chyi-Chia R. Lee, Elizabeth R. Fischer, Kevin J. O’Brien, Bernadette R. Gochuico, Kelly Stone, William A. Gahl, Dean D. Metcalfe
PLoS One. 2016; 11(7): e0159177. Published online 2016 Jul 26. doi: 10.1371/journal.pone.0159177
PMCID:
PMC4961407
ArticlePubReaderPDF–11MCite
18.
Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33AD251E mutation
Yuanli Zhen, Wei Li
Autophagy. 2015 Sep; 11(9): 1608–1622. Published online 2015 Aug 11. doi: 10.1080/15548627.2015.1072669
PMCID:
PMC4590608
ArticlePubReaderPDF–1.3MCite
19.
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
ArticlePubReaderPDF–1.3MCite
20.
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: Identification of the second HPS7 mutation in a patient presenting late in life
Gillian C. Lowe, Isabel Sánchez Guiu, Oliver Chapman, José Rivera, Marie Lordkipanidzé, Natalia Dovlatova, Jonathan Wilde, Steve P. Watson, Neil V. Morgan
Thromb Haemost. Author manuscript; available in PMC 2013 May 2.
Published in final edited form as: Thromb Haemost. 2013 Apr 8; 109(4): 766–768. Published online 2013 Jan 31. doi: 10.1160/TH12-11-0876
PMCID:
PMC3641626
ArticlePubReaderPDF–1.0MCite

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