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Select item 88075451.

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger

Front Pharmacol. 2021; 12: 786937. Published online 2022 Jan 19. doi: 10.3389/fphar.2021.786937

PMCID:: PMC8807545

Article PDF–1.3M

Select item 70552652.

Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7

Giovanni Luca Romano, Chiara Bianca Maria Platania, Gian Marco Leggio, Sebastiano Alfio Torrisi, Salvatore Giunta, Salvatore Salomone, Michele Purrello, Marco Ragusa, Cristina Barbagallo, Frank J. Giblin, Rosa Mastrogiacomo, Francesca Managò, Maurizio Cammalleri, Francesco Papaleo, Filippo Drago, Claudio Bucolo

Sci Rep. 2020; 10: 3972. Published online 2020 Mar 4. doi: 10.1038/s41598-020-60931-5

PMCID:: PMC7055265

Article PDF–2.4M

Select item 53952033.

Clinical and Molecular Phenotyping of a Child with Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS

Melanie M. Bryan, Nathanial Tolman, Karen L. Simon, Marjan Huizing, Robert B. Hufnagel, Brian P. Brooks, Vladislav Speransky, James C. Mullikin, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico

Mol Genet Metab. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Mol Genet Metab. 2017 Apr; 120(4): 378–383. Published online 2017 Feb 27. doi: 10.1016/j.ymgme.2017.02.007

PMCID:: PMC5395203

Article PDF–502K

Select item 36416264.

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

Article PDF–1.0M

Select item 28607335.

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso, Edward K Novak, Rashi Gautam, Edward P O'Brien, Caroline L Tinsley, Derek J Blake, Richard A Spritz, Neal G Copeland, Nancy A Jenkins, Dominick Amato, Bruce A Roe, Marta Starcevic, Esteban C Dell'Angelica, Rosemary W Elliott, Vishnu Mishra, Stephen F Kingsmore, Richard E Paylor, Richard T Swank

Nat Genet. Author manuscript; available in PMC 2010 Apr 28.

Published in final edited form as: Nat Genet. 2003 Sep; 35(1): 84–89. Published online 2003 Aug 17. doi: 10.1038/ng1229

PMCID:: PMC2860733

Article PDF–648K

Select item 40813296.

Suppression of Photosynthetic Gene Expression in Roots Is Required for Sustained Root Growth under Phosphate Deficiency

Jun Kang, Haopeng Yu, Caihuan Tian, Wenkun Zhou, Chuanyou Li, Yuling Jiao, Dong Liu

Plant Physiol. 2014 Jul; 165(3): 1156–1170. Published online 2014 May 27. doi: 10.1104/pp.114.238725

PMCID:: PMC4081329

Article PDF–1.8M

Select item 85338637.

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

Article PDF–742K

Select item 83361988.

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 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

Article PDF–1.9M

Select item 785745410.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

Jose María Bastida, Sara Morais, Veronica Palma-Barqueros, Rocio Benito, Nuria Bermejo, Mutlu Karkucak, Maria Trapero-Marugan, Natalia Bohdan, Mónica Pereira, Ana Marin-Quilez, Jorge Oliveira, Yusuf Yucel, Rosario Santos, Jose Padilla, Kamila Janusz, Catarina Lau, Marta Martin-Izquierdo, Eduarda Couto, Juan Francisco Ruiz-Pividal, Vicente Vicente, Jesus Maria Hernández-Rivas, Jose Ramon González-Porras, Maria Luisa Lozano, Margarida Lima, Jose Rivera

Ann Med. 2019; 51(2): 141–148. Published online 2019 Apr 16. doi: 10.1080/07853890.2019.1587498

PMCID:: PMC7857454

Article PDF–968K

Select item 679475511.

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

Article PDF–1.9M

Select item 584432712.

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish

Tianbing Chen, Guili Song, Huihui Yang, Lin Mao, Zongbin Cui, Kaiyao Huang

Genetics. 2018 Mar; 208(3): 1131–1146. Published online 2018 Jan 16. doi: 10.1534/genetics.117.300621

PMCID:: PMC5844327

Article PDF–3.4M

Select item 537858813.

Dysregulation of PLDN (Pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency

G.F. Mao, L.E. Goldfinger, D.C. Fan, M. P. Lambert, G. Jalagadugula, R. Freishtat, A. K. Rao

J Thromb Haemost. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: J Thromb Haemost. 2017 Apr; 15(4): 792–801. Published online 2017 Feb 23. doi: 10.1111/jth.13619

PMCID:: PMC5378588

Article PDF–1.4M

Select item 307096014.

Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2 and AP-3 inferred from epistatic analyses of mouse coat pigmentation

Diego J. Hoyle, Imilce A. Rodriguez-Fernandez, Esteban C. Dell’Angelica

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2011 Apr; 24(2): 275–281. Published online 2010 Dec 17. doi: 10.1111/j.1755-148X.2010.00815.x

PMCID:: PMC3070960

Article PDF–421K

Select item 282455115.

Hermansky-Pudlak Protein Complexes, AP-3 and BLOC-1, Differentially Regulate Presynaptic Composition in the Striatum and Hippocampus

Karen Newell-Litwa, Sreenivasulu Chintala, Susan Jenkins, Jean-Francois Pare, LeeAnne McGaha, Yoland Smith, Victor Faundez

J Neurosci. 2010 Jan 20; 30(3): 820–831. doi: 10.1523/JNEUROSCI.3400-09.2010

PMCID:: PMC2824551

Article PDF–6.5M

Select item 281661316.

Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency

Verónica T. Cheli, Richard W. Daniels, Ruth Godoy, Diego J. Hoyle, Vasundhara Kandachar, Marta Starcevic, Julian A. Martinez-Agosto, Stephen Poole, Aaron DiAntonio, Vett K. Lloyd, Henry C. Chang, David E. Krantz, Esteban C. Dell'Angelica

Hum Mol Genet. 2010 Mar 1; 19(5): 861–878. Published online 2009 Dec 16. doi: 10.1093/hmg/ddp555