Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome von Abudi-Sinreich, Shachar, Bodine, Steven P, Yokoyama, Tadafumi, Tolman, Nathanial J, Tyrlik, Michal, Testa, Lauren C, Han, Chen G, Dorward, Heidi M, Wincovitch, Stephen M, Anikster, Yair, Gahl, William A, Cinar, Resat, Gochuico, Bernadette R, Malicdan, May Christine V

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Activation of Hormone-sensitive Lipase Requires Two Steps, Protein Phosphorylation and Binding to the PAT-1 Domain of Lipid Droplet Coat Proteins von Wang, Hong, Hu, Liping, Dalen, Knut, Dorward, Heidi, Marcinkiewicz, Amy, Russell, Deanna, Gong, Dawei, Londos, Constantine, Yamaguchi, Tomohiro, Holm, Cecilia, Rizzo, Megan A., Brasaemle, Dawn, Sztalryd, Carole

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Perilipin A Is Essential for the Translocation of Hormone-Sensitive Lipase during Lipolytic Activation von Sztalryd, Carole, Xu, Guoheng, Dorward, Heidi, Tansey, John T., Contreras, Juan A., Kimmel, Alan R., Londos, Constantine

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Post-translational Regulation of Adipose Differentiation-related Protein by the Ubiquitin/Proteasome Pathway von Xu, Guoheng, Sztalryd, Carole, Lu, Xinyue, Tansey, John T., Gan, Jaiwei, Dorward, Heidi, Kimmel, Alan R., Londos, Constantine

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Neurologic involvement in patients with atypical Chediak-Higashi disease von Introne, Wendy J, Westbroek, Wendy, Groden, Catherine A, Bhambhani, Vikas, Golas, Gretchen A, Baker, Eva H, Lehky, Tanya J, Snow, Joseph, Ziegler, Shira G, Malicdan, May Christine V, Adams, David R, Dorward, Heidi M, Hess, Richard A, Huizing, Marjan, Gahl, William A, Toro, Camilo

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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome von Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V

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Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum von Markello, Thomas C., Pak, Laura K., St. Hilaire, Cynthia, Dorward, Heidi, Ziegler, Shira G., Chen, Marcus Y., Chaganti, Krishna, Nussbaum, Robert L., Boehm, Manfred, Gahl, William A.

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Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy von Niethamer, Terren K., Yardeni, Tal, Leoyklang, Petcharat, Ciccone, Carla, Astiz-Martinez, Adrian, Jacobs, Katherine, Dorward, Heidi M., Zerfas, Patricia M., Gahl, William A., Huizing, Marjan

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Neurologic involvement in patients with atypical Chediak-Higashi disease von Introne, Wendy J, Westbroek, Wendy, Cullinane, Andrew R, Groden, Catherine A, Bhambhani, Vikas, Golas, Gretchen A, Baker, Eva H, Lehky, Tanya J, Snow, Joseph, Ziegler, Shira G, Adams, David R, Dorward, Heidi M, Hess, Richard A, Huizing, Marjan, Gahl, William A, Toro, Camilo

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Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis von Cullinane, Andrew R, Yeager, Caroline, Dorward, Heidi, Carmona-Rivera, Carmelo, Wu, Hai Ping, Moss, Joel, O'Brien, Kevin J, Nathan, Steven D, Meyer, Keith C, Rosas, Ivan O, Helip-Wooley, Amanda, Huizing, Marjan, Gahl, William A, Gochuico, Bernadette R

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Mater , a maternal effect gene required for early embryonic development in mice von Dean, Jurrien, Nelson, Lawrence M, Tong, Zhi-Bin, Gold, Lyn, Pfeifer, Karl E, Dorward, Heidi, Lee, Eric, Bondy, Carolyn A

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In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer von Ikawa, Yasuhiro, Hess, Richard, Dorward, Heidi, Cullinane, Andrew R., Huizing, Marjan, Gochuico, Bernadette R., Gahl, William A., Candotti, Fabio

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Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5 von Helip-Wooley, Amanda, Westbroek, Wendy, Dorward, Heidi M., Koshoffer, Amy, Huizing, Marjan, Boissy, Raymond E., Gahl, William A.

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Developmental Expression and Subcellular Localization of Mouse MATER, an Oocyte-Specific Protein Essential for Early Development von Tong, Zhi-Bin, Gold, Lyn, De Pol, Anto, Vanevski, Konstantina, Dorward, Heidi, Sena, Paola, Palumbo, Carla, Bondy, Carolyn A, Nelson, Lawrence M

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Cellular and clinical report of new Griscelli syndrome type III cases von Westbroek, Wendy, Klar, Aharon, Cullinane, Andrew R., Ziegler, Shira G., Hurvitz, Haggit, Ganem, Ashraf, Wilson, Kirkland, Dorward, Heidi, Huizing, Marjan, Tamimi, Haled, Vainshtein, Igor, Berkun, Yackov, Lavie, Moran, Gahl, William A., Anikster, Yair

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria von Biesecker, Leslie G, Sloan, Jennifer L, Johnston, Jennifer J, Manoli, Irini, Chandler, Randy J, Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D, Sysol, Justin R, O'Brien, Kevin, Hauser, Natalie S, Sapp, Julie C, Dorward, Heidi M, Huizing, Marjan, Barshop, Bruce A, Berry, Susan A, James, Philip M, Champaigne, Neena L, de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D, Gavrilov, Dimitar K, Nyhan, William L, Venditti, Charles P

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Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study von Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, Sonies, Barbara, Ciccone, Carla, Dorward, Heidi, Krasnewich, Donna, Huizing, Marjan, Dalakas, Marinos C, Gahl, William A

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Mutation of a Conserved Hydrophobic Patch Prevents Incorporation of ZP3 into the Zona Pellucida Surrounding Mouse Eggs von Zhao, Ming, Gold, Lyn, Dorward, Heidi, Liang, Li-fang, Hoodbhoy, Tanya, Boja, Emily S., Fales, Henry M., Dean, Jurrien

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Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria von Lam, Christina, Gallo, Linda K, Dineen, Richard, Ciccone, Carla, Dorward, Heidi, Hoganson, George E, Wolfe, Lynne, Gahl, William A, Huizing, Marjan

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification von Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.

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