PMC Articles for MedGen (Select 854714) - PMC

Sajjad Karim, Samah Saharti, Nofe Alganmi, Zeenat Mirza, Ahmed Alfares, Shereen Turkistany, Manal Al-Attas, Hend Noureldin, Khadega Al Sakkaf, Heba Abusamra, Mohammed Al-Qahtani, Adel Abuzenadah

Life (Basel) 2022 Jan; 12(1): 14. Published online 2021 Dec 23. doi: 10.3390/life12010014

PMCID:: PMC8779141

Article PDF–4.1M

Select item 63124614.

Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant

Chen G. Han, Kevin J. O’Brien, Lea M. Coon, Julie A. Majerus, Laryssa A. Huryn, Sara G. Haroutunian, Nagabhishek Moka, Wendy J. Introne, Ellen Macnamara, William A. Gahl, May Christine V. Malicdan, Dong Chen, Koyamangalath Krishnan, Bernadette R. Gochuico

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2819–2823. Published online 2018 Oct 4. doi: 10.1002/ajmg.a.40514

PMCID:: PMC6312461

Article PDF–413K

Select item 51997715.

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

Article

Select item 50831806.

Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism

Kevin J. O’Brien, Jay Lozier, Andrew R. Cullinane, Brigitte Osorio, Khanh Nghiem, Vladislav Speransky, Wadih M. Zein, James C. Mullikin, Anne T. Neff, Karen L. Simon, May Christine V. Malicdan, William A. Gahl, Lisa R. Young, Bernadette R. Gochuico

Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 284–287. Published online 2016 Sep 3. doi: 10.1016/j.ymgme.2016.08.009

PMCID:: PMC5083180

Article PDF–212K

Select item 35007847.

Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6

Marjan Huizing, Ben Pederson, Richard A Hess, Ashley Griffin, Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Kevin J O’Brien, Gretchen Golas, Ekaterini Tsilou, James G White, William A Gahl

J Med Genet. Author manuscript; available in PMC 2012 Nov 19.

Published in final edited form as: J Med Genet. 2009 Dec; 46(12): 803–810. Published online 2009 Oct 20. doi: 10.1136/jmg.2008.065961

PMCID:: PMC3500784

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Exosomal RNA Expression Profiles and Their Prediction Performance in Patients With Gestational Diabetes Mellitus and Macrosomia

Yingdi Yuan, Ying Li, Lingmin Hu, Juan Wen

Front Endocrinol (Lausanne) 2022; 13: 864971. Published online 2022 Apr 25. doi: 10.3389/fendo.2022.864971

PMCID:: PMC9082313

Article PDF–1.2M

Select item 90556799.

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

Article PDF–3.0M

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

Article PDF–2.0M

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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

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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 644994513.

Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

Rajendra Bahadur Shahi, Sylvia De Brakeleer, Ben Caljon, Ingrid Pauwels, Maryse Bonduelle, Sofie Joris, Christel Fontaine, Marian Vanhoeij, Sonia Van Dooren, Erik Teugels, Jacques De Grève

BMC Cancer. 2019; 19: 313. Published online 2019 Apr 4. doi: 10.1186/s12885-019-5494-7

PMCID:: PMC6449945

Article PDF–727K

Select item 637957214.

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

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

Joshi Stephen, Tadafumi Yokoyama, Nathanial J. Tolman, Kevin J. O’Brien, Elena-Raluca Nicoli, Brian P. Brooks, Laryssa Huryn, Steven A. Titus, David R. Adams, Dong Chen, William A. Gahl, Bernadette R. Gochuico, May Christine V. Malicdan

PLoS One. 2017; 12(3): e0173682. Published online 2017 Mar 15. doi: 10.1371/journal.pone.0173682

PMCID:: PMC5351877

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Super‐resolution microscopy as a potential approach to diagnosis of platelet granule disorders

D. Westmoreland, M. Shaw, W. Grimes, D. J. Metcalf, J. J. Burden, K. Gomez, A. E. Knight, D. F. Cutler

J Thromb Haemost. 2016 Apr; 14(4): 839–849. Published online 2016 Mar 17. doi: 10.1111/jth.13269

PMCID:: PMC4982064

Article PDF–2.5M

Select item 325864617.

Targeting protein-trafficking pathways alters melanoma treatment sensitivity

Zhi-ming Huang, Milka Chinen, Philip J. Chang, Tong Xie, Lily Zhong, Stephanie Demetriou, Mira P. Patel, Rebecca Scherzer, Elena V. Sviderskaya, Dorothy C. Bennett, Glenn L. Millhauser, Dennis H. Oh, James E. Cleaver, Maria L. Wei

Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2): 553–558. Published online 2011 Dec 27. doi: 10.1073/pnas.1118366109

PMCID:: PMC3258646

Article PDF–594K

Select item 311324918.

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