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Items: 1 to 20 of 107

1.
Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism
Athena Cavounidis, Sumeet Pandey, Melania Capitani, Matthias Friedrich, Amy Cross, Lisa Gartner, Dominik Aschenbrenner, Seunghee Kim-Schulze, Ying Ka Lam, Georgina Berridge, Dermot P. B. McGovern, Benedikt Kessler, Roman Fischer, Paul Klenerman, Joanna Hester, Fadi Issa, Esther A. Torres, Fiona Powrie, Bernadette R. Gochuico, William A. Gahl, Louis Cohen, Holm H. Uhlig
Mucosal Immunol. 2022; 15(6): 1431–1446. Published online 2022 Oct 27. doi: 10.1038/s41385-022-00572-1
PMCID:
PMC9607658
ArticlePubReaderPDF–8.0MCite
2.
Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish
Norimasa Iwanami, Yuka Ozaki, Hiyori Sakaguchi, Yuko Watanabe, Qi Meng, Kyoka Matsumoto, Tomohiro Suzuki, Kiyotaka Hitomi, Masaru Matsuda
G3 (Bethesda) 2022 Oct; 12(10): jkac204. Published online 2022 Aug 9. doi: 10.1093/g3journal/jkac204
PMCID:
PMC9526055
ArticlePubReaderPDF–1.0MCite
3.
Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease
Monica Bacci, Antonietta Ferretti, Marina Marchetti, Maria A. Alberelli, Anna Falanga, Corrado Lodigiani, Erica De Candia
Blood Transfus. 2022 Sep; 20(5): 420–432. Prepublished online 2021 Aug 2. doi: 10.2450/2021.0119-21
PMCID:
PMC9480966
ArticlePubReaderPDF–1.2MCite
4.
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
Muhammad Shakil, Abida Akbar, Nazish Mahmood Aisha, Intzar Hussain, Muhammad Ikram Ullah, Muhammad Atif, Haiba Kaul, Ali Amar, Muhammad Zahid Latif, Muhammad Atif Qureshi, Saqib Mahmood
Genes (Basel) 2022 Mar; 13(3): 503. Published online 2022 Mar 12. doi: 10.3390/genes13030503
PMCID:
PMC8950407
ArticlePubReaderPDF–2.4MCite
5.
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
6.
Hp-s1 Ganglioside Suppresses Proinflammatory Responses by Inhibiting MyD88-Dependent NF-κB and JNK/p38 MAPK Pathways in Lipopolysaccharide-Stimulated Microglial Cells
Jui-Hu Shih, Yow-Fu Tsai, I-Hsun Li, Ming-Hua Chen, Yuahn-Sieh Huang
Mar Drugs. 2020 Oct; 18(10): 496. Published online 2020 Sep 29. doi: 10.3390/md18100496
PMCID:
PMC7600735
ArticlePubReaderPDF–4.3MCite
7.
Platelet δ-Storage Pool Disease: An Update
Arnaud Dupuis, Jean-Claude Bordet, Anita Eckly, Christian Gachet
J Clin Med. 2020 Aug; 9(8): 2508. Published online 2020 Aug 4. doi: 10.3390/jcm9082508
PMCID:
PMC7466064
ArticlePubReaderPDF–2.9MCite
8.
Spontaneous Intracerebral Hemorrhage Due to Delta Storage Pool Disease in a Patient on a Serotonin-Norepinephrine Reuptake Inhibitor
Annette Leibetseder, Judith Wagner, Josef Tomasits, Hans-Peter Haring, Markus Hutterer, Johannes Trenkler, Tim J. von Oertzen
Front Neurol. 2019; 10: 1257. Published online 2019 Nov 26. doi: 10.3389/fneur.2019.01257
PMCID:
PMC6902021
ArticlePubReaderPDF–300KCite
9.
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
ArticlePubReaderPDF–1.9MCite
10.
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
11.
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
ArticlePubReaderCite
12.
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer
Yasuhiro Ikawa, Richard Hess, Heidi Dorward, Andrew R. Cullinane, Marjan Huizing, Bernadette R. Gochuico, William A. Gahl, Fabio Candotti
Mol Genet Metab. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Mol Genet Metab. 2015 Jan; 114(1): 62–65. Published online 2014 Nov 12. doi: 10.1016/j.ymgme.2014.11.006
PMCID:
PMC4279856
ArticlePubReaderPDF–232KCite
13.
Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico
Pedro J. Santiago Borrero, Yolanda Rodríguez-Pérez, Jessicca Y. Renta, Natalio J. Izquierdo, Laura del Fierro, Daniel Muñoz, Norma López Molina, Sonia Ramírez, Glorivee Pagán-Mercado, Idith Ortíz, Enid Rivera-Caragol, Richard A. Spritz, Carmen L. Cadilla
J Invest Dermatol. Author manuscript; available in PMC 2013 Jan 31.
Published in final edited form as: J Invest Dermatol. 2006 Jan; 126(1): 85–90. doi: 10.1038/sj.jid.5700034
PMCID:
PMC3560388
ArticlePubReaderPDF–296KCite
14.
A divalent interaction between HPS1 and HPS4 is required for the formation of the Biogenesis of Lysosome-related Organelle Complex -3 (BLOC-3)
Carmelo Carmona-Rivera, Dimitre R. Simeonov, Nicholas D. Cardillo, William A. Gahl, Carmen L. Cadilla
Biochim Biophys Acta. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Biochim Biophys Acta. 2013 Mar; 1833(3): 468–478. Published online 2012 Oct 23. doi: 10.1016/j.bbamcr.2012.10.019
PMCID:
PMC3556189
ArticlePubReaderPDF–2.2MCite
15.
Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
Farshid N. Rouhani, Mark L. Brantly, Thomas C. Markello, Amanda Helip-Wooley, Kevin O'Brien, Richard Hess, Marjan Huizing, William A. Gahl, Bernadette R. Gochuico
Am J Respir Crit Care Med. 2009 Dec 1; 180(11): 1114–1121. Published online 2009 Sep 3. doi: 10.1164/rccm.200901-0023OC
PMCID:
PMC2784416
ArticlePubReaderPDF–361KCite
16.
Hermansky-Pudlak Syndrome Type 1 in Patients of Indian Descent
Lisa M. Vincent, David Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin J. O'Brien, James G. White, Marjan Huizing, William A. Gahl
Mol Genet Metab. Author manuscript; available in PMC 2010 Jul 1.
Published in final edited form as: Mol Genet Metab. 2009 Jul; 97(3): 227–233. Published online 2009 Apr 2. doi: 10.1016/j.ymgme.2009.03.011
PMCID:
PMC2694228
ArticlePubReaderPDF–949KCite
17.
Membranous complexes characteristic of melanocytes derived from patients with Hermansky–Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment
Justin W. Smith, Amy Koshoffer, Randal E. Morris, Raymond E. Boissy
Pigment Cell Res. Author manuscript; available in PMC 2006 Nov 13.
Published in final edited form as: Pigment Cell Res. 2005 Dec; 18(6): 417–426. doi: 10.1111/j.1600-0749.2005.00265.x
PMCID:
PMC1635962
ArticlePubReaderPDF–620KCite
18.
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4
Ramin Nazarian, Juan M. Falcón-Pérez, Esteban C. Dell'Angelica
Proc Natl Acad Sci U S A. 2003 Jul 22; 100(15): 8770–8775. Published online 2003 Jul 7. doi: 10.1073/pnas.1532040100
PMCID:
PMC166388
ArticlePubReaderPDF–471KCite
19.
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
ArticlePubReaderPDF–701KCite
20.
Genetic analyses of Vietnamese patients with oculocutaneous albinism
Ma Thi Huyen Thuong, Luong Thi Lan Anh, Vu Phuong Nhung, Tran Thi Bich Ngoc, Hoang Thu Lan, Doan Kim Phuong, Nguyen Hai Ha, Nong Van Hai, Nguyen Dang Ton
J Clin Lab Anal. 2022 Sep; 36(9): e24625. Published online 2022 Jul 23. doi: 10.1002/jcla.24625
PMCID:
PMC9459276
ArticlePubReaderPDF–2.2MCite

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