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Select item 31132491.

A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

Andrew R. Cullinane, James A. Curry, Carmelo Carmona-Rivera, C. Gail Summers, Carla Ciccone, Nicholas D. Cardillo, Heidi Dorward, Richard A. Hess, James G. White, David Adams, Marjan Huizing, William A. Gahl

Am J Hum Genet. 2011 Jun 10; 88(6): 778–787. doi: 10.1016/j.ajhg.2011.05.009

Retraction in:: Am J Hum Genet. 2017 May 4; 100(5): 837.

PMCID:: PMC3113249

Abstract Article

Select item 63795722.

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 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 51997714.

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 38566085.

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

Laura Dotta, Silvia Parolini, Alberto Prandini, Giovanna Tabellini, Maddalena Antolini, Stephen F Kingsmore, Raffaele Badolato

Orphanet J Rare Dis. 2013; 8: 168. Published online 2013 Oct 17. doi: 10.1186/1750-1172-8-168

PMCID:: PMC3856608

Abstract Article PDF–338K

Select item 98591046.

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

Kyle S. Chan, Brenda L. Bohnsack, Alexander Ing, Andy Drackley, Valerie Castelluccio, Kevin X. Zhang, Hanta Ralay-Ranaivo, Jennifer L. Rossen

Genes (Basel) 2023 Jan; 14(1): 135. Published online 2023 Jan 3. doi: 10.3390/genes14010135

PMCID:: PMC9859104

Abstract Article PDF–1.4M

Select item 93412407.

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

Abstract Article PDF–816K

Select item 82550718.

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

Abstract Article PDF–11M

Select item 81750769.

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 806560110.

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Hwei Wuen Chan, Elena R. Schiff, Vijay K. Tailor, Samantha Malka, Magella M. Neveu, Maria Theodorou, Mariya Moosajee

Genes (Basel) 2021 Apr; 12(4): 508. Published online 2021 Mar 30. doi: 10.3390/genes12040508

PMCID:: PMC8065601

Abstract Article PDF–2.0M

Select item 783947711.

Periodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky–Pudlak syndrome type 4 gene

Toshihiko Fukuzawa

Genes Cells. 2021 Jan; 26(1): 31–39. Published online 2020 Nov 28. doi: 10.1111/gtc.12818

PMCID:: PMC7839477

Abstract Article PDF–1.1M

Select item 661094612.

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 655431413.

Defective Zn²⁺ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

Sanjeev Kiran Gotru, Johanna P. van Geffen, Magdolna Nagy, Elmina Mammadova-Bach, Julia Eilenberger, Julia Volz, Georgi Manukjan, Harald Schulze, Leonard Wagner, Stefan Eber, Christian Schambeck, Carsten Deppermann, Sanne Brouns, Paquita Nurden, Andreas Greinacher, Ulrich Sachs, Bernhard Nieswandt, Heike M. Hermanns, Johan W. M. Heemskerk, Attila Braun

Sci Rep. 2019; 9: 8333. Published online 2019 Jun 6. doi: 10.1038/s41598-019-44751-w

PMCID:: PMC6554314

Abstract Article PDF–1.1M

Select item 651706914.

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

PMCID:: PMC6517069

Abstract Article PDF–4.1M

Select item 648386215.

Precise therapeutic gene correction by a simple nuclease-induced double-strand break

Sukanya Iyer, Sneha Suresh, Dongsheng Guo, Katelyn Daman, Jennifer C. J. Chen, Pengpeng Liu, Marina Zieger, Kevin Luk, Benjamin P. Roscoe, Christian Mueller, Oliver D. King, Charles P. Emerson, Jr., Scot A. Wolfe

Nature. Author manuscript; available in PMC 2019 Oct 3.

Published in final edited form as: Nature. 2019 Apr; 568(7753): 561–565. Published online 2019 Apr 3. doi: 10.1038/s41586-019-1076-8

PMCID:: PMC6483862

Abstract Article PDF–5.0M

Select item 638547216.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico

Orphanet J Rare Dis. 2019; 14: 52. Published online 2019 Feb 21. doi: 10.1186/s13023-019-1023-7

PMCID:: PMC6385472

Abstract Article PDF–6.7M

Select item 632912317.

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

Abstract Article PDF–4.0M

Select item 594633318.

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 579773719.

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

Select item 559293720.

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype

James C. Hart, Craig T. Miller

G3 (Bethesda) 2017 Sep; 7(9): 3123–3131. Published online 2017 Jul 26. doi: 10.1534/g3.117.1125

PMCID:: PMC5592937

Abstract Article PDF–1.6M

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