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Items: 1 to 20 of 31

1.
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
2.
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
3.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
4.
HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells
Jiaying Yu, Xin He, Aihua Wei, Teng Liu, Qin Zhang, Ying Pan, Zhenhua Hao, Lin Yang, Yefeng Yuan, Zhao Zhang, Chang Zhang, Chanjuan Hao, Zhihua Liu, Wei Li
Front Immunol. 2020; 11: 560110. Published online 2020 Nov 5. doi: 10.3389/fimmu.2020.560110
PMCID:
PMC7674556
AbstractArticlePDF–4.5M
5.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
6.
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
Soudeh Ghafouri-Fard, Feyzollah Hashemi-Gorji, Vahid Reza Yassaee, Nasrin Alipour, Mohammad Miryounesi
Int J Mol Cell Med. 2016 Summer; 5(3): 192–195. Published online 2016 Jul 3.
PMCID:
PMC5125371
ArticlePDF–167K
7.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M
8.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
9.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
10.
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
AbstractArticlePDF–232K
11.
Dysregulation of Galectin-3. Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Andrew R. Cullinane, Caroline Yeager, Heidi Dorward, Carmelo Carmona-Rivera, Hai Ping Wu, Joel Moss, Kevin J. O’Brien, Steven D. Nathan, Keith C. Meyer, Ivan O. Rosas, Amanda Helip-Wooley, Marjan Huizing, William A. Gahl, Bernadette R. Gochuico
Am J Respir Cell Mol Biol. 2014 Mar; 50(3): 605–613. doi: 10.1165/rcmb.2013-0025OC
PMCID:
PMC4068929
AbstractArticlePDF–1.4M
12.
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
AbstractArticlePDF–296K
13.
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
AbstractArticlePDF–2.2M
14.
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte
PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954
PMCID:
PMC3522587
AbstractArticlePDF–130K
15.
Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type
Saunie M. Hutton, Richard A. Spritz
J Invest Dermatol. Author manuscript; available in PMC 2012 Dec 6.
Published in final edited form as: J Invest Dermatol. 2008 Oct; 128(10): 2442–2450. Published online 2008 May 8. doi: 10.1038/jid.2008.109
PMCID:
PMC3515683
AbstractArticlePDF–314K
16.
Organelle biogenesis: En BLOC exchange for RAB32 and RAB38
Michael S. Marks
Curr Biol. Author manuscript; available in PMC 2013 Nov 20.
Published in final edited form as: Curr Biol. 2012 Nov 20; 22(22): R963–R965. doi: 10.1016/j.cub.2012.10.005
PMCID:
PMC3513372
AbstractArticlePDF–288K
17.
BLOC-3 Mutated in Hermansky-Pudlak Syndrome Is a Rab32/38 Guanine Nucleotide Exchange Factor
Andreas Gerondopoulos, Lars Langemeyer, Jin-Rui Liang, Andrea Linford, Francis A. Barr
Curr Biol. 2012 Nov 20; 22(22): 2135–2139. doi: 10.1016/j.cub.2012.09.020
PMCID:
PMC3502862
AbstractArticlePDF–721K
18.
Functional genomics identifies therapeutic targets for MYC-driven cancer
Masafumi Toyoshima, Heather L. Howie, Maki Imakura, Ryan M. Walsh, James E. Annis, Aaron N. Chang, Jason Frazier, B. Nelson Chau, Andrey Loboda, Peter S. Linsley, Michele A. Cleary, Julie R. Park, Carla Grandori
Proc Natl Acad Sci U S A. 2012 Jun 12; 109(24): 9545–9550. Published online 2012 May 23. doi: 10.1073/pnas.1121119109
PMCID:
PMC3386069
AbstractArticlePDF–940K
19.
Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent
Carmelo Carmona-Rivera, Gretchen Golas, Richard Hess, Nicholas D. Cardillo, Elijah H. Martin, Kevin O’Brien, Ekaterini Tsilou, Bernadette R Gochuico, James G. White, Marjan Huizing, William A. Gahl
J Invest Dermatol. Author manuscript; available in PMC 2012 Jun 1.
Published in final edited form as: J Invest Dermatol. 2011 Dec; 131(12): 2394–2400. Published online 2011 Aug 11. doi: 10.1038/jid.2011.228
PMCID:
PMC3213276
AbstractArticlePDF–1.0M
20.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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