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1. Crosstalk between microbiome, regulatory T cells and HCA2 orchestrates the inflammatory response in a murine psoriasis model

Author

Agatha Schwarz, Rebecca Philippsen, Serena G. Piticchio, Jan N. Hartmann, Robert Häsler, Stefan Rose-John, and Thomas Schwarz

Subjects
G-protein-coupled receptors, imiquimod, interleukins, microbiome, psoriasis, regulatory T cells, Immunologic diseases. Allergy, RC581-607
Abstract

The organ-specific microbiome plays a crucial role in tissue homeostasis, among other things by inducing regulatory T cells (Treg). This applies also to the skin and in this setting short chain fatty acids (SCFA) are relevant. It was demonstrated that topical application of SCFA controls the inflammatory response in the psoriasis-like imiquimod (IMQ)-induced murine skin inflammation model. Since SCFA signal via HCA2, a G-protein coupled receptor, and HCA2 expression is reduced in human lesional psoriatic skin, we studied the effect of HCA2 in this model. HCA2 knock-out (HCA2-KO) mice reacted to IMQ with stronger inflammation, presumably due to an impaired function of Treg. Surprisingly, injection of Treg from HCA2-KO mice even enhanced the IMQ reaction, suggesting that in the absence of HCA2 Treg switch from a suppressive into a proinflammatory type. HCA2-KO mice differed in the composition of the skin microbiome from wild type mice. Co-housing reversed the exaggerated response to IMQ and prevented the alteration of Treg, implying that the microbiome dictates the outcome of the inflammatory reaction. The switch of Treg into a proinflammatory type in HCA2-KO mice could be a downstream phenomenon. This opens the opportunity to reduce the inflammatory tendency in psoriasis by altering the skin microbiome.

Published
2023
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2. MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

Author

Greta Rossi, Gabriele Ordazzo, Niccolò N Vanni, Valerio Castoldi, Angelo Iannielli, Dario Di Silvestre, Edoardo Bellini, Letizia Bernardo, Serena G Giannelli, Mirko Luoni, Sharon Muggeo, Letizia Leocani, PierLuigi Mauri, and Vania Broccoli

Subjects
eye, retinal development, glial cell, astrocytes, Medicine, Science, Biology (General), QH301-705.5
Abstract

Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent. WFS1 encodes for the endoplasmic reticulum (ER) resident transmembrane protein wolframin with multiple functions in ER processes. However, the WFS1-dependent etiopathology in retinal cells is unknown. Herein, we showed that Wfs1 mutant mice developed early retinal electrophysiological impairments followed by marked visual loss. Interestingly, axons and myelin disruption in the optic nerve preceded the degeneration of the retinal ganglion cell bodies in the retina. Transcriptomics at pre-degenerative stage revealed the STAT3-dependent activation of proinflammatory glial markers with reduction of the homeostatic and pro-survival factors glutamine synthetase and BDNF. Furthermore, label-free comparative proteomics identified a significant reduction of the monocarboxylate transport isoform 1 (MCT1) and its partner basigin that are highly enriched on retinal glia and myelin-forming oligodendrocytes in optic nerve together with wolframin. Loss of MCT1 caused a failure in lactate transfer from glial to neuronal cell bodies and axons leading to a chronic hypometabolic state. Thus, this bioenergetic impairment is occurring concurrently both within the axonal regions and cell bodies of the retinal ganglion cells, selectively endangering their survival while impacting less on other retinal cells. This metabolic dysfunction occurs months before the frank RGC degeneration suggesting an extended time-window for intervening with new therapeutic strategies focused on boosting retinal and optic nerve bioenergetics in WS1.

Published
2023
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3. Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

Author

Daniel I Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena G Giannelli, Paola Venco, Pietro G Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, and Sonia Levi

Subjects
Coenzyme A, hiPSC, iron, neurodegeneration, PKAN, Medicine (General), R5-920, Genetics, QH426-470
Abstract

Abstract Pantothenate kinase‐associated neurodegeneration (PKAN) is an early onset and severely disabling neurodegenerative disease for which no therapy is available. PKAN is caused by mutations in PANK2, which encodes for the mitochondrial enzyme pantothenate kinase 2. Its function is to catalyze the first limiting step of Coenzyme A (CoA) biosynthesis. We generated induced pluripotent stem cells from PKAN patients and showed that their derived neurons exhibited premature death, increased ROS production, mitochondrial dysfunctions—including impairment of mitochondrial iron‐dependent biosynthesis—and major membrane excitability defects. CoA supplementation prevented neuronal death and ROS formation by restoring mitochondrial and neuronal functionality. Our findings provide direct evidence that PANK2 malfunctioning is responsible for abnormal phenotypes in human neuronal cells and indicate CoA treatment as a possible therapeutic intervention.

Published
2016
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4. Hydrophobic Waters in Bromodomains

Author

Serena G. Piticchio, Miriam Martínez-Cartró, Salvatore Scaffidi, Sergio Rodríguez-Arévalo, Andrea Bagán, Ainoa Sánchez-Arfelis, Carmen Escolano, Carles Galdeano, and Xavier Barril

Subjects
bromodomains, BRD4, structural water molecules, fragment-based drug design, medicinal chemistry, crystallography, drug discovery, General Works
Abstract

Targeting epigenetic proteins is a rapidly growing area for medicinal chemistry and drug [...]

Published
2019
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5. Extracorporeal Life Support Organization Registry International Report 2022: 100,000 Survivors

Author

Tonna, Joseph E., Boonstra, Philip S., MacLaren, Graeme, Paden, Matthew, Brodie, Daniel, Anders, Marc, Hoskote, Aparna, Ramanathan, Kollengode, Hyslop, Rob, Fanning, Jeffrey J., Rycus, Peter, Stead, Christine, Barrett, Nicholas A., Mueller, Thomas, Gómez, Rene D., Malhotra Kapoor, Poonam, Fraser, John F., Bartlett, Robert H., Alexander, Peta M.A., Barbaro, Ryan P., Abbasi, Adeel, Said Abdalmohsen, Ahmad, Abdelbary, Akram M., Abecasis, Francisco, Abel, Peter, Abu-Omar, Yasir, Adams, Douglas R, Manuel Africano, Juan, Aganga, Devon, Agati, Salvatore, Agerstrand, Cara, Aguillon, Mario V., Akers, Crystal S., Akhtarekhavari, Julia, Alazzam, Mohammad Izzat Salah, Albert, Martin, Alberti, Angela, Al-Fares, Abdulrahman A., Alfoudri, Huda, Allaert, Silvie, Allbert, Keesha N., Allen, Christopher T., Lescano Alva, Miguel Ángel, Alwardt, Cory M., Amigoni, Angela, Anandamurthy, Balaram, Anastasiadis, Kyriakos, Anders, Nicholas R., Anderson, Scott A., Anderson, Patricia L., Andrijević, Ana, Annoni, Alice, Anselmi, Michael, Anstey, James R., Antonini, Marta V., Antonitsis, Polychronis, Stein Araujo, Tays, Arcalas, Rhodney, Areinamo, Igor, Martin Arias, Anibal, Armijo-Garcia, Veronica, Aronsky, Vladimir, Arora, Lovkesh, Arora, Madhur, Leigh Aspenleiter, Marit, Atik, Fernando A., AugustGeorg Auzinger, Erin Colleen, Azzam, Ismail, Bacchetta, Matthew, Bak, Erica I., Balcells, Joan, Sánchez Ballesteros, Jesús, Banjac, Igor S., Barbaria, Jacqueline M., Barrigoto, Cleide L., Bass, Stephanie D., Batranović, Uroš, Bauer, Matthew H., Fernando Bautista, Diego, Beck, Robert M., Giraldo Bejarano, Estefania, Belohlavek, Jan, Bembea, Melania M., Benes, Jan, Benharash, Peyman, Benish, Lynne A., Bennett, Suzanne, Bento, Luís F.N., Bermudez, Christian A., Bertini, Pietro, Best, Derek, Bharat, Ankit, Bhutta, Omar J., Bizzell, Samantha J., Blakeman, Stephanie A., Blanco-Schweizer, Pablo, Blanton, Jessica K., Blood, Peggy S., Bohlmann, Allison S., Kyle Bohman, John, Bombino, Michela, Kathleen Bonadonna, Desiree, Bond, Ashley, Borgmann, Kristina M., Bourgoin, Pierre, Boville, Brian M., Boza, Raquel, Brady, Heather L., Brady, Alison, Braunlich, Jessica M., Bridges, Brian C., Brinkley, Karen K., Brookshire, Robert S., Brozzi Nicole Brueggemann, Nicolas A., Buckley, Dwight P., Jr., Buckley, Klayton, Budhani, Irfan B., Bukamal, Nazar, Burgos, Lucrecia M, Burša, Filip, Busby, Landon K., Buscher, Hergen, Butler, Menoly, Butt, Warwick W., Byrnes, Jonathan W., Calaritis, Christos, Caldwell, Lisa R., Calligaro, Gregory L., Campbell, Patrick T., Camporota, Luigi, Fernando Caneo, Luiz, Jovo Carapic, Vladimir, Carrasco-Carrasco, Cristina, Ivan Carrizo, Nestor, Carrow, Heidi, Carton, Edmund G., Casabella, Christian, Gomez Casal, Vanesa, Casey, Francis L., III, Castillo, Andres, Castleberry, Anthony W., Alexandros Cavayas, Yiorgos, Cerqua, Karey, Ming Chan, Kai Man ChanWai, Brian Chapman, Jason, Brahma Chari, Hari, Cheifetz, Omair ChaudharyIra M., Chen, Robin H.S, Chen, Weiting, Cheung, Eva W., Cheung, Anson, Chico, Juan I., Chiletti, Roberto, Jin Cho, Hwa, Cholette, Jill M., Christensen, Steffen, Chui, Betty S., Circelli, Alessandro, Clement, Katherine C., Cleuziou, Julie, Clouse, Brian, Cole, Gwendolen, Coles, Garrett M., Collins, Monika F., Collins, Monika F., Connelly, James, Conrad, Steven A., Cook, Marlene, Copeland, Hannah, Copus, Scott C., Cox, Charles S., Jr, Craig, Lynne K., Crain, Natasha, Cremonese, Ricardo V., Criswell, Emily A., Cross, Lisa M., Crowley, Moira A., Crowley, Jerome C., Cruz, Leonora, Cypel, Marcelo, Czarnik, Tomasz, Czuczwa, Miroslaw E., Sica da Rocha, Taís, Daddow, Samuel, Dali, Dante C., Dalton, Heidi J., Daly, Kathleen J.R., Damuth, Emily, Daniel, Dennis A., Daniel IV, John M., Daniel, Josiane M., Danis, Max D., Danko, Melissa E., Rodrigues Dantas, Joao Alberto, Daoust, Isabelle, Dauwe, Dieter F., Davidson, Mark, Davis, Joel C., Davis, Mitchell, D’Cunha, Jonathan, de Arruda Bravim, Bruno, de BoodeKim T. De La Cruz, Willem P., Gray DeAngelis, Kathryn, Debeuckelaere, Gerdy, Deitemyer, Matthew A., DellaVolpe, Jeffrey, Deneau, Jamie L., DeNino, Walter F., Denmark, Christopher G., Denney, Derek, DeValeria, Patrick A., Dewulf, Petra, Di Nardo, Matteo, DiBardino, Daniel J., DiMartino, Joseph, Dimopoulos, Stavros, Domico, Michele B., Dominy, Meaghan E., Donker, Dirk W., Dresbach, Till, Droogh, Joep M., Dunlap, Tiffany W., Dupon, Allsion, Durham, Lucian A., III, Durward, Andrew, Dvorak, Anna, Dyett, John F., Dziedzina, Carol L., Eaken, Carmen L., Eaton, Jonathan S., Eberle, Christopher J., Edwards, Linda, Efseviou, Christakis, Eigner, Juliann M., Ahmed Elhamrawi, Hazem, Elhazmi, Alyaa M., Elizondo, Tammy, Ellersick, Beverly L., Emling, Jonathan A., Ernst, Andreas, Pablo Escalante, Juan, Espinoza, Otoniel, Evey, Lee W., Fan, Eddy, Fang, Gary, Faulkner, Gail M., Fauman, Karen R, Ferguson, Niall, Ferreira, Benigno, Fiane, Arnt E., Andrade Fierro, Dario, Martha Filippi, María, Findeisen, Michael C., Finlay, Katie, Finlayson, Gordon, Fischer, Gwenyth A., Fischer, Courtney D., Fischer, William J., III, Fisher, Caleb M., Fitriasari, Reni, Fitzgerald, Jillian, Fix, Melissa K., Fleming, Sarah B., Flynn, Brigid C., Forst, Beth A., Fortuna, Philip P., Foti, Giuseppe, Fox, Matthew P., Franco, Thais O., David Freeland, C., Fried, Justin A., Friedman, Matthew L., Furlanetto, Beatriz, Fux, Thomas, Gaião, Sérgio, Gale, Michael J., Garcia, Joann Kathleen G., Garcia-Montilla, Romel, Gardner, Eric R., Garg, Meena, Garrison, Lawrence L., Gavrilovic, Srdjan M., Gawda, Ryszard, Geer, Laura W., Gelandt, Elton A., Gelvin, Michael G., Genovese, Bradley M., George, Jeffrey A., George, Timothy J, George, Sangley, Ghimire, Anup, Giani, Marco, Gill, Baljit S., Glikes, Erin, Golecki, Michael, Gongora, Enrique, Govener, Sara, Graf, Amanda, Grasselli, Giacomo, Gray, Brian W., Greenlee, Joseph A., III, Gregoric, Igor D., Gregory, Melinda, Grins, Edgars, Volker Groesdonk, Heinrich, Group, Kimberly F., Guarracino, Fabio, Joy Guidi-Solloway, Alexandra, Gunn, Tyler M., Guru, Pramod K, Haddle, John C., Haft, Jonathan W., Haisz, Emma, Hall, Julie L., Hall, Cameron, Hamaguchi, Jun, Hammond, Terese C., Han, Peggy K., Hardison, Daphne C., Harischandra, Dickwelle T., Hart, Shaun M., Harting, Matthew T., Hartley, Louise, Harvey, Chris J., Hasan, Zubair, Fawzy Hassan, Ibrahim, Hastings, Jennifer R., Hatcher, Renee’, Hatton, Kevin W., Haught, Christopher K., Awori Hayanga, Jeremiah, Peter Haydon, Timothy, Healy, Aaron H., Heard, Micheal L., Heather, Beth M., Hendrix, Rik H.J., Hennig, Felix, Hermens, Greet HermansJeannine A.J., Hernandez, Deborah A., Hernandez-Montfort, Jaime, Herrera, Guillermo, Hickman, Keri, Hittel, Ashley, Hobbs, Crystal, Hoffman, Jordan R.H., Hollinger, Laura E., Homishak, Michael, Horigoshi, Nelson K., Hoshino, Kota, Huang, Shu-Chien, Huenges, Katharina, Hussey, Alexander D., Hyslop, Robert W., Ihle, Rayan E., Ingemansson, Ola, Ivulich, Daniel, Jackson, Amanda L., Garcia Jacques, Rogelio, Jain, Harsh, Jakobs, Sharon M., Jan, Robert, Janowiak, Lisa M., Jara, Claire B., Jarden, Angela M., Jarzembowski, Jamie L., Jaudon, Andrew, Kishore Jayanthi, Venkata Krishna, Jennings, Joseph A., Jeong, Inseok, Meza Jiménez, Rafael, Jimenez-Rodriguez, Gian M., Joachim, Sabrina, Joelsons, Daniel, Johnson, Caroline A., Johnson, Andrea L., Jones, Jeffry H., Joseph, Mark, Joseph, Sunimol, Joshi, Raja, Joyce, Christopher J., Seung Jung, Jae, Carone Junior, José, Kallas, Harry J., KamerkarPilje Kang, Asavari, Kar, Biswajit, Karapanagiotidis, Georgios T., Kattan, Javier, Kaufman, David A., Kawauchi, Akira, Keene, Sarah D., Keller, Norma M., Keller, Roberta, Kelley, Emily W., Kelley, Kellie, Kelly-Geyer, Janet F., Kenderessy, Peter, Kenny, Laura E., Keshavjee, Shaf, Kessel, D., Kessler, Heather, Keuler, Suzanne, Khicha, Sanjay, Wan Kim, Do, Kim, Richard Y., Maxwell Kime, Aaron, Kincade, Robert C., Kipfmueller, Florian, Kirk, Douglas A., Klein, Liviu, Knapp, Randall S., Knapp, Randall S., Kneyber, Martin C.J., Knowles, Andrea L., Koch, Jillian M., Koepke, Stephanie, Kogelmann, Klaus M., Elzo Kraemer, Carlos, Krauklis, Amanda, Krumroy, Samantha L., Kumar, Madhan, Kumar, Arun, Kumpf, Matthias E, Kyle, Kimberly, Laffin, Anna, Kees Lagrand, Wim, Lahiji, Parshawn A., Keung Lai, Peter Chi, Ka Lai, Cally Ho, Danielle Laird, Amanda, Landsberg, Michelle LaMarreDavid M., Lanmueller, Pia, Oude Lansink-Hartgring, Annemieke, Beth Larson, Sharon, Laufenberg, De’Ann M., Lavana, Jayshree, Layne, Tracie L., John Lazar, Michael, Ledoux, Matthew R., Lee, Raymond C., Leek, Thomas M., Lequier, Laurance, Lesbekov, Timur, Leslie, Robert, Anne Leung, Kit Hung, Lillie, Jon, Phang Lim, Yeong, Lim, Sang-Hyun, Lin, Ling, Lindsey, Thomas, Ho Ling, Steven Kin, Lingle, Kaitlyn J., Lipes, Jed, Liu, Songqiao, Llevadias, Judit, Lomas, Erin A., Longenecker, Robert D., Lorusso, Roberto, Ann Low, Tracy, Steven Lubinsky, Anthony, Lucas, Matthias LubnowMark T., Lucchini, Alberto, Luze, Lisa E., Lynch, William R., Manoj, M.C., Maas, Jacinta J., MacNamara, Vanessa, Madden, Jesse L., Maimone, Justin, Malhotra, Rajiv, Malone, Matthew P., Mangukia, Chirantan, Manzur-Sandoval, Daniel, Maráczi, Veronika, Marinaro, Jonathan L., Marinucci, Christina R., Marshall, Tammy, Martin, Mark, Marwali, Eva M., Maslach-Hubbard, Anna, Matijašević, Jovan, Mattke, Adrian, Mattucci, Joseph, Maul, Timothy M., Maybauer, Marc O., Mayette, Michael, Mayville, Joni R., McAllister, Catherine, McBride, Martha W., Scott McCaul, David, McClelland, Samantha L.S., Gregory McCloskey, Colin, McGregor, Randy, McKamie, Wesley A., McKee, Andrew D., McMahon, Chelsea M., McMullin, Kaye, McNicol, Jane, McNulty, John P., McRae, Thomas, Meade, Maureen E., Meersseman, Philippe, Mekeirele, Michael, Ito Mendes, Elisa, Menon, Anuradha P., Meyer, Jason P., Meyers, Jourdan E., Meyns, Bart, Mignone, John L., Miller, Brittany D., Miller, Malcolm G.A., Miller, Deborah, Mintak, Renee, Minter, Sarah M., Reis Miranda, Dinis, Mirza, Farrukh, Mishkin, Joseph D., Modelewski, Paul, Mohan, Rajeev C., Hui Mok, Yee, Money, Dustin, Monteagudo, Julie, Moores, Russell R., Jr., Moran, Patrick, Morelock, Shawn, Moreno, Marsha R., Blanco Morillo, Juan, Morrison, Tracy, Morton, John M., Morton, Brenda, Moscatelli, Andrea, Mosier, Jarrod M., Muellenbach, Ralf M., Mueller, Andreas, Mueller, Dale, Musca, Steven C., Nagpal, Dave, Najaf, Tasnim, Narasimhan, Mangala, Nater, Melissa, Natividad, Zynthia, Nedeljkov, Djordje, Nelson, Bryan D., Newman, Sally F., Newton, Debra E., Neyman, Jonathan L., George Ng, Wing Yiu, Nicholson, Meghan C., Nicolaas, Christine, Nix, Charlie, Nkwantabisa, Raymond, Nolan, Shirley, Norese, Mariano, Norton, Bridget M., Norton, Bridget M., O’Brien, Serena G., O’Callaghan, Maura, Oishi, Peter, O’Leary, Tony D., Olia, Salim E., O’Meara, Carlisle, Oppel, Emily E., Arias Ortiz, Julian, Oza, Pranay L., Ozment, Caroline P., Pacific, Marjorie, Pálizas, Fernando, Palmer, David, Paoletti, Luca, Pardo, Diego H., Paredes, Pablo, Patel, Thomas PasgaardMrunal G., Patel, Sandeep M., Patel, Vijay S., Patel, Brijesh V., PatelDrisya Paul, Sameer, Pawale, Amit A., Pearson, Nicole M., Renee Pearson, Crystal, Peek, Giles J., Pellecchia, Crescens M., Pellegrino, Vincent, Peperstraete, Harlinde, Perkins, Rebecca L., Perkins, Brandon, Peterec, Steven, Peterman, Claire, Phillips, Cooper W., Piekutowski, Richard R., Pilan, María L., Luisa Pilan, Maria, Mark Pincus, Jason, Pino, Melissa, Plambeck, Robert W., Plisco, Michael S., Plumley, Donald A., Plunkett, Mark D., Poffo, Robinson, Poh, Pei-Fen, Polito, Angelo, Pollema, Travis L, Pozzi, Matteo, Pozzi, Matteo, Pranikoff, Thomas, Prekker, Matthew E., Prossen, Erik F., Puligandla, Pramod S., Puslecki, Mateusz, Raheel Qureshi, Muhammad, Emilia Rabanal, Lily, Abdulhamid Rabie, Ahmed, Rackley, Craig R., Radovancevic, Rajko, Raes, Matthias, Allen Raff, Lauren Desiree, Rahban, Youssef, Raimer, Patricia L., Rajbanshi, Bijoy G., Ramanan, Raj, Rambaud, Jerome, Ramírez-Arce, Jorge A., Simões Ramos, Ana Carolina, Rao, Suresh G., Rector, Raymond, Redfors, Bengt, Regmi, Ashim, Alejandro Rey, Jose, Miguel Ribeiro, Joao, Richards, Chelsea E, Joan Richardson, C., Riddle, Christy C., Riera, Jordi, Ripardo, Marina, Rivas, Fernando M., Roan, Ronald M., Robertson, Elizabeth, Robinson, Megan, Röder, Daniel, Rodrigus, Inez E.R., Paul Roeleveld, Peter, Romano, Jennifer C., Rona, Roberto, Ann Rosenberg, Carol, Rosenow, Felix, Rowe, Robert J., Rower, Katy E., Rudolph, Kristina L., Fernando Rueda, Luis, Ruf, Bettina, Russell, Hyde M., Russell, Nichole, Ryan, Kathleen, Saberi, Asif A., Said, Ahmed S., Sailor, Caitlin, Sakal, Angela, Lujan Salas, Gisela, Salazar, Leonardo, Saleem, Kashif, Samoukovic, Gordan, Sanchez, Pablo G., Marie Santiago, Lian, Sargin, Murat, Miguel Sassine, Assad, Satou, Nancy L., Saunders, Paul C., Schachinger, Scott, Schaible, Thomas, Schellongowski, Peter, Schlager, Gerald W., Schmid, Christof, Schmitt, Joachim, Schnell, LeeAndra, Schnur, Janos, Schroeder, Lukas, Schubach, Scott, Schuetz, Michael T., Schwartz, Gary S., Schwarz, Patricia, Scriven, Nicole M., Seabrook, Ruth B., Seefeldt, Cassandra, Seelhammer, Troy G., Segura-Matute, Susana, Sen, Ayan, Adrian Seoane, Leonardo, Shaffer, Jamie, Shafi, Bilal M., Shambley, Shannon, Shankar, Shyam, Shapland, Amanda, Sharng, Yih, Shavelle, David, Sheldrake, Jayne, Mohan Shetty, Rajesh, Shiber, Joseph R., Shimzu, Naoki, Lou Short, Billie, Sichting, Kay A., Sidehamer, Keith E., Siebenaler, Teka, Silvestry, Scott C., Sinclair, Jennifer T, Sinclair, Andrew, Singh, Aalok R., Singh, Gurmeet, Skinner, Sean C., Smart, Alexandra, Smith, Reanna M., Smith, Adam, Smith, Karen, Sommer-Candelario, Sherri, Song, Seunghwan, Sorensen, Gro, Sousa, Eduardo, Sower, Christopher T., Spadea, Nicholas V, Spangle, April, Speicher, David G., Spieth, Peter M., Srivastava, Ankur, Srivastava, Neeraj, Stahl, Mark, Stallkamp, Eric D., Jr, Stanley, Vanessa J., Starr, Joanne P., Staudinger, Thomas, Stevens, Berkeley E., Stevens, Kimberly, Stocker, Christian, Strickland, Richard, Suarez, Erik E., Kumar Subramanian, Rakesh, Sudakevych, Serhii, Summerall, Charlene, Sundararajan, Santosh, Susupaus, Attapoom, Suzuki, Hiroyuki, Sweberg, Todd, Sydzyik, Troy, Anh Ta, Tuan, Tagliari, Luciana, Tanaka, Hiroyuki, Tanski, Christopher T., Tasset, Mark, Taylor, Donna M., Teman, Nicholas R., Ramesh Thangaraj, Paul, Thiagarajan, Ravi R., Thiruchelvam, Timothy, Thomas, James A., Thomas, Owain D., Thompson, Shaun L., Thomson, David A., Thukaram, Roopa, Todd, Mark L., Toeg, Hadi, Torres, Silvio F., Trautner, Simon, Trombino, Terry, Tuazon, Divina M., Tuel, Julie, Tukacs, Monika, Turner, April N., Tyree, Melissa M., Uchiyama, Prashant Vaijyanath, Makoto, van den Brule, Judith M.D., van Dyck, Marlice A., van Gijlswijk, Mascha, Van Meurs, Krisa P., VanDyck, Tyler J., Vardi, Amir, Vega, Alejandra, Ventetuolo, Corey E., Vera, Magdalena, Vercaemst, Leen, Vets, Philippe, Viamonte, Heather, Vidlund, Mårten, Vitali, Sally H., Vlaa, Alexander P.J., Vuylsteke, Alain, Loon Wan, Kah, Watkins, Reuben, Watson, Pia, Weast, Travis A., Weaver, Karen E., Welkovics, Norbert, Wellner, Heidi L., Wells, Jason C., Welter, Karen, Westpheling, Amber G., Whalen, Lesta D.S., Whebell, Stephen, Wiersema, Ubbo, Wiisanen, Matthew E., Eugene Wilcox, Bradley, Wille, Keith, Jan Will, Ellyne, Wilson, Brock J., Win, April M., Winearls, James R., Wise, Linda J., Witter, Tobias, Ruby Wong, Hoi Mei, Worku, Berhane, Wright, Tina M, Wu, James K., Yalon, Larissa A., Yantosh, Garrett, Yaranov, Dmitry M., Yee, Pat, Yi, Cassia, Yost, Christian C., Young, John, Younger, Katrina, Zaborowski, Steven, Zachmann, Brenda, Zainab, Asma, Zanai, Rosanna, Zhao, Ju, Zhou, Chengbin, and Zinger, Marcia

Published
2024
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7. Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Author

Gregersen, Pernille Axél, Hammarsjö, Anna, Graversen, Lise, Brix, Nis, Lindelöf, Hillevi, Jensen, Uffe Birk, Farholt, Stense, Rubak, Sune, Bjerre, Jesper, Piticchio, Serena G., Terkelsen, Thorkild, Nishimura, Gen, Hellfritzsch, Michel Bach, and Grigelioniene, Giedre

Subjects
BONE morphogenetic proteins, SKELETAL dysplasia, GENETIC disorders, LABORATORY animals, HUMAN abnormalities
Abstract

The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been associated with variants in BMP5. Here, we report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility, laryngo‐tracheo‐bronchomalacia and atrioventricular septal defect. We discuss the phenotype in relation to the known tissue‐specific expression of Bmp5 and similar morphological abnormalities previously reported in experimental animal models. Our findings suggest a new association between BMP5 variants and a range of developmental anomalies, involving ears, heart and skeleton, thereby increasing understanding of BMP5's role in human development. [ABSTRACT FROM AUTHOR]

Published
2025
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13. Deaf and Hard of Hearing Students' Perceptions of Campus Administrative Support

Author

Johnson, Serena G. and Fann, Amy

Abstract

Most students with hearing loss attend community college, yet very little research on this population of students exists in higher education. This research was conducted in order to gain a better understanding of how students who are d/Deaf navigate the mainstream postsecondary environment. Purposeful sampling was used to gather data from 19 individuals who attended postsecondary institutions not designed specifically for d/Deaf students. These participants were enrolled in an urban community college district in the southwestern United States and were receiving accommodations from their campus accessibility office. Participants shared their perceptions of the campus accessibility office, the individuals within it, and campus administrative support. The results from this study help shed light on the experience of d/Deaf students in community college and provide insight on how to facilitate their success in postsecondary education. The author provides recommended practices for campus accessibility offices to adopt in order to effectively serve this student population, including specialized orientation for students and instructors, specialized advising, utilization of student feedback, and increasing campus and community awareness of services offered.

Published
2016
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15. Data from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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16. Supplementary Figure 3 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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17. Supplementary Figure 7 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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18. Supplementary Figure 9 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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19. Supplementary Figure 4 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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20. Supplementary Figure 2 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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21. Supplementary Figure 5 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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22. Supplementary Figure 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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23. Supplementary Figure Legends from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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24. Supplementary Data 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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25. Supplementary Figure 6 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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26. Supplementary Table 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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27. Supplementary Figure 8 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Katz, Tiffany A., primary, Liao, Serena G., primary, Palmieri, Vincent J., primary, Dearth, Robert K., primary, Pathiraja, Thushangi N., primary, Huo, Zhiguang, primary, Shaw, Patricia, primary, Small, Sarah, primary, Davidson, Nancy E., primary, Peters, David G., primary, Tseng, George C., primary, Oesterreich, Steffi, primary, and Lee, Adrian V., primary

Published
2023
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28. Supplementary Figure 5 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Fig S5. Imprinted genes display approximately 50% DNA methylation. Gene regions known to be imprinted were chosen to confirm the validity of the Methyl-Seq assay. For each gene a β value was calculated for each window. The frequency of each particular β value is graphically represented for each gene.

Published
2023
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29. Supplementary Figure 2 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Figure S2. All samples from both time points were used in a hierarchal clustering analysis. 10 samples at the early time point and 11 samples at the late time point were included.(E=early, L=late, P=parous, NP=nulliparous)

Published
2023
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30. Supplementary Figure 8 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Fig S8. Hypermethylation of the Igf1r aligns with sites of histone methylation. (A) The UCSC Genome Browser was used to align the Igf1r with other epigenetic modifications. The red bar indicates the region of differential DNA methylation identified in the SureSelectXT Methyl-Seq Assay. Black bars represent sites of histone methylation, the intensity corresponds to the degree of methylation. (B) Igf1r bisulfite sequencing data are depicted. Each animal is numbered and each horizontal line represents DNA from a separate clone from that animal. The percent methylation of each animal is listed under each CpG site. Open circles = unmethylated, and closed circles = methylated. The lower panel represents a combined result from all clones in all animals.

Published
2023
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31. Supplementary Table 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Primers used for quantitative PCR and bisulfite sequencing.

Published
2023
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32. Supplementary Figure 7 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Fig S7. Igf1r is central to a top signaling network in Ingenuity pathway analysis. Ingenuity pathway analysis (IPA) identified this signaling network to be significantly altered by DNA methylation. The hyper and hypomethylated genes identified to be persistently differentially methylated by the meta-analysis were input into IPA (Supplemental Data 1). Red symbols represent hypermethylation, green symbols represent hypomethylation and intensity depicts methylation difference between nulliparous and parous.

Published
2023
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33. Supplementary Figure 9 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Fig S9. Differentially methylated regions of IGF pathway genes align with histone methylation sites. The UCSC Genome Browser was used to align the Irs1, Igf1, and Igfbp4 with other epigenetic modifications. The red bars indicate the regions of differential DNA methylation identified in the SureSelectXT Methyl-Seq Assay. Black bars represent sites of histone methylation, the intensity corresponds to the degree of methylation.

Published
2023
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34. Data from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

The most effective natural prevention against breast cancer is an early first full-term pregnancy. Understanding how the protective effect is elicited will inform the development of new prevention strategies. To better understand the role of epigenetics in long-term protection, we investigated parity-induced DNA methylation in the mammary gland. FVB mice were bred or remained nulliparous and mammary glands harvested immediately after involution (early) or 6.5 months following involution (late), allowing identification of both transient and persistent changes. Targeted DNA methylation (109 Mb of Ensemble regulatory features) analysis was performed using the SureSelectXT Mouse Methyl-seq assay and massively parallel sequencing. Two hundred sixty-nine genes were hypermethylated and 128 hypomethylated persistently at both the early and late time points. Pathway analysis of the persistently differentially methylated genes revealed Igf1r to be central to one of the top identified signaling networks, and Igf1r itself was one of the most significantly hypermethylated genes. Hypermethylation of Igf1r in the parous mammary gland was associated with a reduction of Igf1r mRNA expression. These data suggest that the IGF pathway is regulated at multiple levels during pregnancy and that its modification might be critical in the protective role of pregnancy. This supports the approach of lowering IGF action for prevention of breast cancer, a concept that is currently being tested clinically. Cancer Prev Res; 8(10); 1000–9. ©2015 AACR.

Published
2023
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35. Supplementary Figure 3 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Figure S3. Mapping efficiency was above 50 for all samples in both time points. One sample was an outlier in the early time point (P12) and one at the late time point (NP4) and were removed from further analysis. Both Pearson Correlation plots and Principal Component Analysis are displayed.

Published
2023
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36. Supplementary Figure Legends from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

All Supplementary Figure legends are included in this document.

Published
2023
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37. Supplementary Figure 6 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Figure S6. Supervised hierarchical clustering and cell type content analysis. (A) Heatmaps displaying supervised hierarchical clustering of hypermethylated and hypomethylated windows including dendrograms (Red=Methylated, Green=Unmethylated).

Published
2023
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38. Supplementary Data 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplemental Data 1. This spreadsheet contains the results of the differential methylation analysis, the meta-analysis and the pathway analysis. In the meta-analysis sheets, the first 3 columns represent the chromosomal locations, followed by the significance level (stat, p-value, and FDR). Weight.1 and weight.2 represent the weight of early and late data respectively. For the meta-analysis we weighted both as 1. The effect size represents the difference in DNA methylation between NP and P at the early and late time points (effect size.1=early, effect size.2=late), and the p-value for each is next depicted. We then filtered the data by trimmed means as in the Materials and Methods section and the new values are listed in columns N and O. We then annotated the gene name, which genomic feature the loci resides in, and the distance to the nearest promoter (distance to feature). We then annotated the mean coverage and the number of CpG sites in the differentially methylated region. The differential methylation sheets include similar data without the columns pertaining to the meta-analysis. The 3Ingenuity Pathway Analysis (IPA) spreadsheets contain the pathway analysis result. The pathway name, followed by the statistical significance, and molecules represented in our data for each pathway are detailed on each sheet. The analysis was first conducted on the hyper and hypomethylated genes separately, then the combined hyper and hypermethylated genes were analyzed together.

Published
2023
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39. Supplementary Figure 1 from Targeted DNA Methylation Screen in the Mouse Mammary Genome Reveals a Parity-Induced Hypermethylation of Igf1r That Persists Long after Parturition

Author

Adrian V. Lee, Steffi Oesterreich, George C. Tseng, David G. Peters, Nancy E. Davidson, Sarah Small, Patricia Shaw, Zhiguang Huo, Thushangi N. Pathiraja, Robert K. Dearth, Vincent J. Palmieri, Serena G. Liao, and Tiffany A. Katz

Abstract

Supplementary Figure S1. Experimental design and quality control analysis for Methyl-Seq data. (A) FVB mice were bred to become pregnant (parous, P) and underwent a complete pregnancy (Pr), lactation (L), and Involution (I). Animals were then euthanized immediately after involution (Early, E), or 6.5 months post-involution (Late, Lt). Nulliparous (NP) age matched controls were included at each time point. Mammary glands were harvested and genomic DNA was isolated and processed for input into the SureSelectXT Mouse Methy-Seq Enrichment Platform for DNA methylation analysis. (B) Quantitative RT-PCR of cell type specific transcripts. Each data point represents an animal, and bars represent mean ? SEM.

Published
2023
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41. Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy

Author

Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, and Alberto Burlina

Subjects
Inherited metabolic disorders, Long-chain fatty acid oxidation disorders, Medium-chain triglyceride oil, Triheptanoin, Pediatrics, RJ1-570
Abstract

Abstract Background Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD. Methods This retrospective, nationwide study included nine patients with LC-FAOD who switched from standard therapy with MCT oil to triheptanoin oral liquid. Data were collected between 2018 and 2022. Clinical outcome measures were the number and duration of intercurrent catabolic episodes and number and duration of metabolic decompensation episodes requiring hospitalisation. Creatine kinase (CK) levels and treatment-related adverse effects were also reported. Results Patients were provided a mean ± standard deviation (SD) triheptanoin dose of 1.5 ± 0.9 g/kg/day in four divided administrations, which accounted for 23.9 ± 8.9% of patients’ total daily caloric intake. Triheptanoin treatment was started between 2.7 and 16 years of age and was continued for 2.2 ± 0.9 years. The number of intercurrent catabolic episodes during triheptanoin treatment was significantly lower than during MCT therapy (4.3 ± 5.3 vs 22.0 ± 22.2; p = 0.034), as were the number of metabolic decompensations requiring hospitalisation (mean ± SD: 2.0 ± 2.5 vs 18.3 ± 17.7; p = 0.014), and annualised hospitalisation rates and duration. Mean CK levels (outside metabolic decompensation episodes) were lower with triheptanoin treatment versus MCT oil for seven patients. No intensive care unit admissions were required during triheptanoin treatment. Epigastric pain and diarrhoea were recorded as adverse effects during both MCT and triheptanoin treatment. Conclusions The significant improvement in clinical outcome measures after the administration of triheptanoin highlights that this treatment approach can be more effective than MCT supplementation in patients with LC-FAOD. Triheptanoin was well tolerated and decreased the number of intercurrent catabolic episodes, metabolic decompensation episodes requiring hospitalisation, and the annualised rate and duration of hospitalisations.

Published
2024
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43. MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

Author

Rossi, Greta, primary, Ordazzo, Gabriele, additional, Vanni, Niccolò N, additional, Castoldi, Valerio, additional, Iannielli, Angelo, additional, Di Silvestre, Dario, additional, Bellini, Edoardo, additional, Bernardo, Letizia, additional, Giannelli, Serena G, additional, Luoni, Mirko, additional, Muggeo, Sharon, additional, Leocani, Letizia, additional, Mauri, PierLuigi, additional, and Broccoli, Vania, additional

Published
2023
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44. Author response: MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

Author

Rossi, Greta, primary, Ordazzo, Gabriele, additional, Vanni, Niccolò N, additional, Castoldi, Valerio, additional, Iannielli, Angelo, additional, Di Silvestre, Dario, additional, Bellini, Edoardo, additional, Bernardo, Letizia, additional, Giannelli, Serena G, additional, Luoni, Mirko, additional, Muggeo, Sharon, additional, Leocani, Letizia, additional, Mauri, PierLuigi, additional, and Broccoli, Vania, additional

Published
2023
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45. Rapid Conversion of Fibroblasts into Functional Forebrain GABAergic Interneurons by Direct Genetic Reprogramming

Author

Colasante, Gaia, Lignani, Gabriele, Rubio, Alicia, Medrihan, Lucian, Yekhlef, Latefa, Sessa, Alessandro, Massimino, Luca, Giannelli, Serena G., Sacchetti, Silvio, Caiazzo, Massimiliano, Leo, Damiana, Alexopoulou, Dimitra, Dell’Anno, Maria Teresa, Ciabatti, Ernesto, Orlando, Marta, Studer, Michele, Dahl, Andreas, Gainetdinov, Raul R., Taverna, Stefano, Benfenati, Fabio, and Broccoli, Vania

Published
2015
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48. MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

Author

Greta Rossi, Gabriele Ordazzo, Niccolò N. Vanni, Valerio Castoldi, Angelo Iannielli, Dario Di Silvestre, Edoardo Bellini, Letizia Bernardo, Serena G. Giannelli, Sharon Muggeo, Leocani Letizia, PierLuigi Mauri, and Vania Broccoli

Abstract

SummaryWolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes and neurological deficits are the most prominent. WFS1 encodes for the endoplasmic reticulum (ER) resident transmembrane protein Wolframin with multiple functions in ER processes. However, the WFS1-dependent etiopathology in retinal cells is unknown. Herein, we showed that Wfs1 mutant mice developed early retinal electrophysiological impairments followed by marked visual loss. Interestingly, axons and myelin disruption in the optic nerve preceded the degeneration of the retinal ganglion cell bodies in the retina. Transcriptomics at pre-degenerative stage revealed the STAT3-dependent activation of proinflammatory glial markers with reduction of the homeostatic and pro-survival factors Glutamine synthetase and BDNF. Furthermore, label-free comparative proteomics identified a significant reduction of the monocarboxylate transport isoform 1 (MCT1) and its partner Basigin that are highly enriched on retinal astrocytes and myelin-forming oligodendrocytes in optic nerve together with Wolframin. Loss of MCT1 caused a failure in lactate transfer from glial to neuronal cell bodies and axons leading to a chronic hypometabolic state. Thus, this bioenergetic impairment is occurring concurrently both in the axonal regions and cell bodies of the retinal ganglion cells, selectively endangering their survival while impacting less on other retinal cells. This metabolic dysfunction occurs months before the frank RGC degeneration suggesting an extended time window for intervening with new therapeutic strategies focused on boosting retinal and optic nerve bioenergetics in WS1.

Published
2022
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50. Is Your Team Caught in the Solution Fixation Trap?

Author

Sohrab, Serena G., Waller, Mary J., and Uitdewilligen, Sjir

Subjects
JOB applications, GROUP problem solving, TEAMS
Abstract

The article discusses a decision-making bias called the solution fixation trap, which occurs when a team rushes into discussing possible solutions without fully understanding the problem. This can lead to committing to the wrong course of action. The authors conducted a study using 28 teams and developed a method to visualize and analyze a team's decision-making behavior. They found that low-performing teams were more focused on solution exploration and assessment rather than gathering and analyzing information. The article provides strategies for managers to prevent their teams from falling into the solution fixation trap, such as starting meetings by reviewing all available information and encouraging evidence-based decision-making. [Extracted from the article]

Published
2023

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