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Items: 1 to 20 of 110

1.
Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Resat Cinar, Abhishek Basu, Muhammad Arif, Joshua K. Park, Charles N. Zawatsky, Ben Long G. Zuo, Mei Xing G. Zuo, Kevin J. O’Brien, Molly Behan, Wendy Introne, Malliga R. Iyer, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico
Version 1. medRxiv. Preprint. 2024 May 17. doi: 10.1101/2024.05.16.24307300
PMCID:
PMC11118631
AbstractArticlePDF–2.7M
2.
Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome pulmonary fibrosis
Joanna Y. Wang, Nigel S. Michki, Sneha Sitaraman, Brandon J. Banaschewski, Susan M. Lin, Jeremy B. Katzen, Maria C. Basil, Edward Cantu, Jarod A. Zepp, David B. Frank, Lisa R. Young
Version 3. bioRxiv. Preprint. NaN NaN [revised 2024 Jun 1]. doi: 10.1101/2023.06.17.545390
PMCID:
PMC10942273
AbstractArticle
3.
Flow-chamber device (T-TAS) to diagnose patients suspected of platelet function defects
Anna Lecchi, Silvia La Marca, Lidia Padovan, Marco Boscarino, Flora Peyvandi, Armando Tripodi
Blood Transfus. 2024 Jan; 22(1): 55–64. Prepublished online 2023 Feb 7. doi: 10.2450/2023.0208-22
PMCID:
PMC10812895
AbstractArticlePDF–785K
4.
Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in Psen mutant mice
Paola Montenegro, Phoenix Chen, Jongkyun Kang, Sang Hun Lee, Sofia Leone, Jie Shen
Proc Natl Acad Sci U S A. 2023 Oct 17; 120(42): e2306714120. Published online 2023 Oct 10. doi: 10.1073/pnas.2306714120
PMCID:
PMC10589670
AbstractArticlePDF–5.2M
5.
High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis
Delia I. Fernandez, Isabella Provenzale, Matthias Canault, Salome Fels, Antonia Lenz, Felicia Andresen, Anne Krümpel, Arnaud Dupuis, Johan W. M. Heemskerk, Doris Boeckelmann, Barbara Zieger
Blood Adv. 2023 Oct 24; 7(20): 6163–6177. Published online 2023 Jul 20. doi: 10.1182/bloodadvances.2023009860
PMCID:
PMC10582840
AbstractArticlePDF–3.2M
6.
Human pluripotent stem cell-derived respiratory airway progenitors generate alveolar epithelial cells and recapitulate features of idiopathic pulmonary fibrosis
Mikael G Pezet, Juan A Torres, Tania A Thimraj, Ivana Matkovic Leko, Nadine Schrode, John W Murray, Kristin Beaumont, Hans-Willem Snoeck
Version 2. bioRxiv. Preprint. 2023 Feb 1 [revised 2023 Oct 31]. doi: 10.1101/2023.01.30.526265
PMCID:
PMC9915513
AbstractArticle
7.
Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
Masroor Ellahi Babar, Akhtar Ali, Syed Hassan Abbas, Mirza Jawad Ul Hasnain, Nida Babar, Hira Babar, Tanveer Hussain, Asif Nadeem, Namra Ayub, Sundus Shahid, Muhammad Tariq Pervez
Iran J Public Health. 2022 Sep; 51(9): 2048–2059. doi: 10.18502/ijph.v51i9.10560
PMCID:
PMC9884379
AbstractArticlePDF–1.3M
8.
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
AbstractArticlePDF–8.0M
9.
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
AbstractArticlePDF–1.0M
10.
Systematic review of drug effects in humans and models with surfactant-processing disease
Dymph Klay, Thijs W. Hoffman, Ankie M. Harmsze, Jan C. Grutters, Coline H.M. van Moorsel
Eur Respir Rev. 2018 Sep 30; 27(149): 170135. Published online 2018 Jul 11. doi: 10.1183/16000617.0135-2017
PMCID:
PMC9489115
AbstractArticlePDF–567K
11.
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
AbstractArticlePDF–701K
12.
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
AbstractArticlePDF–1.2M
13.
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
AbstractArticlePDF–2.2M
14.
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V. Malicdan, Yair Anikster
Front Genet. 2022; 13: 936064. Published online 2022 Aug 15. doi: 10.3389/fgene.2022.936064
PMCID:
PMC9420964
AbstractArticlePDF–1.3M
15.
Untargeted Metabolome- and Transcriptome-Wide Association Study Suggests Causal Genes Modulating Metabolite Concentrations in Urine
Reyhan Sönmez Flitman, Bita Khalili, Zoltan Kutalik, Rico Rueedi, Anneke Brümmer, Sven Bergmann
J Proteome Res. 2021 Nov 5; 20(11): 5103–5114. Published online 2021 Oct 26. doi: 10.1021/acs.jproteome.1c00585
PMCID:
PMC9286311
AbstractArticlePDF–1.9M
16.
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
AbstractArticlePDF–2.9M
17.
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
AbstractArticlePDF–2.2M
18.
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism
Yuanyuan Xiao, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu
BMC Genomics. 2022; 23: 332. Published online 2022 Apr 29. doi: 10.1186/s12864-022-08597-3
PMCID:
PMC9055679
AbstractArticlePDF–3.0M
19.
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
AbstractArticlePDF–2.4M
20.
Modeling of lung phenotype of Hermansky–Pudlak syndrome type I using patient-specific iPSCs
Takahiro Suezawa, Shuhei Kanagaki, Yohei Korogi, Kazuhisa Nakao, Toyohiro Hirai, Koji Murakami, Masatoshi Hagiwara, Shimpei Gotoh
Respir Res. 2021; 22: 284. Published online 2021 Nov 4. doi: 10.1186/s12931-021-01877-8
PMCID:
PMC8570015
AbstractArticlePDF–7.7M

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