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Select item 63208561.

Purification and Functional Characterization of the C-Terminal Domain of the β-Actin-Binding Protein AIM1 In Vitro

Fang Wu, Liangkai Cheng, Qi Yu, Lin Zhang, Hong Li, Caiyan Wang

Molecules. 2018 Dec; 23(12): 3281. Published online 2018 Dec 11. doi: 10.3390/molecules23123281

PMCID:: PMC6320856

Abstract Article PDF–3.4M

Select item 60875432.

SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity

J Park, AH Talukder, SA Lim, K Kim, K Pan, B Melendez, SD Bradley, KR Jackson, JS Khalili, J Wang, C Creasy, BF Pan, SE Woodman, C Bernatchez, D Hawke, P Hwu, KM Lee, J Roszik, G Lizée, C Yee

Cancer Immunol Res. Author manuscript; available in PMC 2018 Aug 12.

Published in final edited form as: Cancer Immunol Res. 2017 Aug; 5(8): 618–629. Published online 2017 Jun 19. doi: 10.1158/2326-6066.CIR-17-0051

PMCID:: PMC6087543

Abstract Article PDF–733K

Select item 44613053.

Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity

Bum-Ho Bin, Jinhyuk Bhin, Seung Ha Yang, Misun Shin, Yeon-Ju Nam, Dong-Hwa Choi, Dong Wook Shin, Ai-Young Lee, Daehee Hwang, Eun-Gyung Cho, Tae Ryong Lee

PLoS One. 2015; 10(6): e0129273. Published online 2015 Jun 9. doi: 10.1371/journal.pone.0129273

PMCID:: PMC4461305

Abstract Article PDF–8.0M

Select item 41224054.

The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population

Saioa López, Óscar García, Iñaki Yurrebaso, Carlos Flores, Marialbert Acosta-Herrera, Hua Chen, Jesús Gardeazabal, Jesús María Careaga, María Dolores Boyano, Ana Sánchez, Juan Antonio Ratón-Nieto, Arrate Sevilla, Isabel Smith-Zubiaga, Alicia García de Galdeano, Conrado Martinez-Cadenas, Neskuts Izagirre, Concepción de la Rúa, Santos Alonso

PLoS One. 2014; 9(8): e104367. Published online 2014 Aug 5. doi: 10.1371/journal.pone.0104367

PMCID:: PMC4122405

Abstract Article PDF–3.2M

Select item 30848115.

A Customized Pigmentation SNP Array Identifies a Novel SNP Associated with Melanoma Predisposition in the SLC45A2 Gene

Maider Ibarrola-Villava, Lara P. Fernandez, Santos Alonso, M. Dolores Boyano, Maria Peña-Chilet, Guillermo Pita, Jose A. Aviles, Matias Mayor, Cristina Gomez-Fernandez, Beatriz Casado, Manuel Martin-Gonzalez, Neskuts Izagirre, Concepcion De la Rua, Aintzane Asumendi, Gorka Perez-Yarza, Yoana Arroyo-Berdugo, Enrique Boldo, Rafael Lozoya, Arantxa Torrijos-Aguilar, Ana Pitarch, Gerard Pitarch, Jose M. Sanchez-Motilla, Francisca Valcuende-Cavero, Gloria Tomas-Cabedo, Gemma Perez-Pastor, Jose L. Diaz-Perez, Jesus Gardeazabal, Iñigo Martinez de Lizarduy, Ana Sanchez-Diez, Carlos Valdes, Angel Pizarro, Mariano Casado, Gregorio Carretero, Rafael Botella-Estrada, Eduardo Nagore, Pablo Lazaro, Ana Lluch, Javier Benitez, Conrado Martinez-Cadenas, Gloria Ribas

PLoS One. 2011; 6(4): e19271. Published online 2011 Apr 29. doi: 10.1371/journal.pone.0019271

PMCID:: PMC3084811

Abstract Article PDF–348K

Select item 87107976.

Oncogenic Activity of Solute Carrier Family 45 Member 2 and Alpha‐Methylacyl‐Coenzyme A Racemase Gene Fusion Is Mediated by Mitogen‐Activated Protein Kinase

Ze‐Hua Zuo, Yan‐Ping Yu, Bao‐Guo Ren, Silvia Liu, Joel Nelson, Zhou Wang, Junyan Tao, Tirthadipa Pradhan‐Sundd, Rohit Bhargava, George Michalopoulos, Qi Chen, Jun Zhang, Deqin Ma, Arjun Pennathur, James Luketich, Paul Satdarshan Monga, Michael Nalesnik, Jian‐Hua Luo

Hepatol Commun. 2022 Jan; 6(1): 209–222. Published online 2021 Sep 10. doi: 10.1002/hep4.1724

PMCID:: PMC8710797

Abstract Article PDF–1.3M

Select item 79271847.

SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation

Linh Le, Iliana E. Escobar, Tina Ho, Ariel J. Lefkovith, Emily Latteri, Kirk D. Haltaufderhyde, Megan K. Dennis, Lynn Plowright, Elena V. Sviderskaya, Dorothy C. Bennett, Elena Oancea, Michael S. Marks

Mol Biol Cell. 2020 Nov 15; 31(24): 2687–2702. doi: 10.1091/mbc.E20-03-0200

PMCID:: PMC7927184

Abstract Article PDF–2.9M

Select item 63332998.

IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon

Maryam M. Asgari, Amanda E. Toland, Sarah T. Arron

J Invest Dermatol. Author manuscript; available in PMC 2019 Jan 15.

Published in final edited form as: J Invest Dermatol. 2017 Jan; 137(1): 251–253. Published online 2016 Aug 24. doi: 10.1016/j.jid.2016.07.038

PMCID:: PMC6333299

Article PDF–51K

Select item 55295129.

AIM1 is an actin-binding protein that suppresses cell migration and micrometastatic dissemination

Michael C. Haffner, David M. Esopi, Alcides Chaux, Meltem Gürel, Susmita Ghosh, Ajay M. Vaghasia, Harrison Tsai, Kunhwa Kim, Nicole Castagna, Hong Lam, Jessica Hicks, Nicolas Wyhs, Debika Biswal Shinohara, Paula J. Hurley, Brian W. Simons, Edward M. Schaeffer, Tamara L. Lotan, William B. Isaacs, George J. Netto, Angelo M. De Marzo, William G. Nelson, Steven S. An, Srinivasan Yegnasubramanian

Nat Commun. 2017; 8: 142. Published online 2017 Jul 26. doi: 10.1038/s41467-017-00084-8

PMCID:: PMC5529512

Abstract Article PDF–5.9M

Select item 507078410.

Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin

Ryosuke Kita, Hunter B. Fraser

PLoS Genet. 2016 Oct; 12(10): e1006382. Published online 2016 Oct 19. doi: 10.1371/journal.pgen.1006382

PMCID:: PMC5070784

Abstract Article PDF–2.9M

Select item 317431211.

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, James A. Curry, Dawn M. Maynard, Hannah Carlson-Donohoe, Carla Ciccone, NISC Comparative Sequencing Program, Thomas C. Markello, Meral Gunay-Aygun, Marjan Huizing, William A. Gahl

J Invest Dermatol. Author manuscript; available in PMC 2012 Apr 1.

Published in final edited form as: J Invest Dermatol. 2011 Oct; 131(10): 2017–2025. Published online 2011 Jun 16. doi: 10.1038/jid.2011.157

PMCID:: PMC3174312

Abstract Article PDF–1.1M

Select item 118226012.

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu, Norihisa Ishii, Yoshinori Umezawa, Joji Tada, Noriaki Kikuchi, Minoru Takata, Kenji Takamori, Mari Kishibe, Michi Tanaka, Yoshinori Miyamura, Shiro Ito, Yasushi Tomita

Am J Hum Genet. 2004 Mar; 74(3): 466–471. Published online 2004 Feb 11. doi: 10.1086/382195

PMCID:: PMC1182260

Abstract Article PDF–185K

Select item 1037122613.

Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population

Khai C Ang, Victor A Canfield, Tiffany C Foster, Thaddeus D Harbaugh, Kathryn A Early, Rachel L Harter, Katherine P Reid, Shou Ling Leong, Yuka Kawasawa, Dajiang Liu, John W Hawley, Keith C Cheng

eLife. 2023; 12: e77514. Published online 2023 Jun 9. doi: 10.7554/eLife.77514

PMCID:: PMC10371226

Abstract Article PDF–2.0M

Select item 349303914.

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism

JUNG MIN KO, JUNG-AH YANG, SEON-YONG JEONG, HYON-JU KIM

Mol Med Rep. 2012 Apr; 5(4): 943–948. Published online 2012 Jan 25. doi: 10.3892/mmr.2012.764

PMCID:: PMC3493039

Abstract Article PDF–348K

Select item 227634715.

A Genomewide Association Study of Skin Pigmentation in a South Asian Population

Renee P. Stokowski, P. V. Krishna Pant, Tony Dadd, Amelia Fereday, David A. Hinds, Carl Jarman, Wendy Filsell, Rebecca S. Ginger, Martin R. Green, Frans J. van der Ouderaa, David R. Cox

Am J Hum Genet. 2007 Dec; 81(6): 1119–1132. Published online 2007 Oct 15. doi: 10.1086/522235

PMCID:: PMC2276347

Abstract Article PDF–347K

Select item 310167416.

Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients

Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, Valentina Di Iorio, Simona Fecarotta, Teresa de Berardinis, Antonello Iovine, Adriano Magli, Sabrina Signorini, Elisa Fazzi, Maria Silvana Galantuomo, Maurizio Fossarello, Sandro Montefusco, Alfredo Ciccodicola, Alberto Neri, Claudio Macaluso, Francesca Simonelli, Enrico Maria Surace

Invest Ophthalmol Vis Sci. 2011 Mar; 52(3): 1281–1289. Published online 2011 Mar 9. doi: 10.1167/iovs.10-6091

PMCID:: PMC3101674

Abstract Article PDF–654K

Select item 351568317.

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

Abstract Article PDF–314K

Select item 297333118.

New common variants affecting susceptibility to basal cell carcinoma

Simon N Stacey, Patrick Sulem, Gisli Masson, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Kari Hemminki, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Rafael Botella-Estrada, Virtudes Soriano, Pablo Juberias, Berta Saez, Yolanda Gilaberte, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Veronica Höiom, Annika Lindblom, Johannes J Bonenkamp, Michelle M van Rossum, Katja K H Aben, Esther de Vries, Mario Santinami, Maria G Di Mauro, Andrea Maurichi, Judith Wendt, Pia Hochleitner, Hubert Pehamberger, Julius Gudmundsson, Droplaug N Magnusdottir, Solveig Gretarsdottir, Hilma Holm, Valgerdur Steinthorsdottir, Michael L Frigge, Thorarinn Blondal, Jona Saemundsdottir, Hjördis Bjarnason, Kristleifur Kristjansson, Gyda Bjornsdottir, Ichiro Okamoto, Licia Rivoltini, Monica Rodolfo, Lambertus A Kiemeney, Johan Hansson, Eduardo Nagore, José I Mayordomo, Rajiv Kumar, Margaret R Karagas, Heather H Nelson, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Jon H Olafsson, Augustine Kong, Kari Stefansson

Nat Genet. Author manuscript; available in PMC 2010 Nov 4.

Published in final edited form as: Nat Genet. 2009 Aug; 41(8): 909–914. Published online 2009 Jul 5. doi: 10.1038/ng.412

PMCID:: PMC2973331

Abstract Article PDF–208K

Select item 236744919.

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

Jiali Han, Peter Kraft, Hongmei Nan, Qun Guo, Constance Chen, Abrar Qureshi, Susan E. Hankinson, Frank B. Hu, David L. Duffy, Zhen Zhen Zhao, Nicholas G. Martin, Grant W. Montgomery, Nicholas K. Hayward, Gilles Thomas, Robert N. Hoover, Stephen Chanock, David J. Hunter

PLoS Genet. 2008 May; 4(5): e1000074. Published online 2008 May 16. doi: 10.1371/journal.pgen.1000074

PMCID:: PMC2367449

Abstract Article PDF–240K

Select item 367205920.

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

David L. Duffy, Z. Z. Zhao, Richard A. Sturm, Nicholas K. Hayward, Nicholas G. Martin, Grant W. Montgomery

J Invest Dermatol. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: J Invest Dermatol. 2010 Feb; 130(2): 520–528. Published online 2009 Aug 27. doi: 10.1038/jid.2009.258

PMCID:: PMC3672059

Abstract Article PDF–607K

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