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Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors Bosakova, Michaela; Abraham, Sara P.; Wachtell, Davis; Zieba, Jennifer T.; Kot, Alexander; Nita, Alexandru; Czyrek, Aleksandra Anna; Koudelka, Adolf; Ursachi, Vlad-Constantin; Feketova, Zuzana; Rico-Llanos, Gustavo; Svozilova, Katerina; Kocerova, Petra; Fafilek, Bohumil; Gregor, Tomas; Kotaskova, Jana; Duran, Ivan; Vanhara, Petr; Doubek, Michael; Mayer, Jiri; Soucek, Karel; Krakow, Deborah; Krejci, Pavel Share Save
Achondroplasia: aligning mouse model with human clinical studies shows crucial importance of immediate postnatal start of the therapy Rico-Llanos, Gustavo; Spoutil, Frantisek; Blahova, Eva; Koudelka, Adolf; Prochazkova, Michaela; Czyrek, Aleksandra; Fafilek, Bohumil; Prochazka, Jan; Lopez, Marcos Gonzalez; Krivanek, Jan; Sedlacek, Radislav; Krakow, Deborah; Nonaka, Yosuke; Nakamura, Yoshikazu; Krejci, Pavel Share Save
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta Kot, Alexander; Chun, Cora; Martin, Jorge H.; Wachtell, Davis; Hudson, David; Weis, MaryAnn; Marks, Haley; Srivastava, Siddharth; Eyre, David R.; Duran, Ivan; Zieba, Jennifer; Krakow, Deborah Share Save
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Placenta accreta spectrum disorder at single-cell resolution: a loss of boundary limits in the decidua and endothelium Afshar, Yalda; Yin, Ophelia; Jeong, Anhyo; Martinez, Guadalupe; Kim, Jina; Ma, Feiyang; Jang, Christine; Tabatabaei, Sarah; You, Sungyong; Tseng, Hsian-Rong; Zhu, Yazhen; Krakow, Deborah Share Save
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Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests MacCarrick, Gretchen; Mackenzie, William; Raggio, Cathleen; White, Klane; Krakow, Deborah; Izzo, Emanuela; Pansare, Vikram; Hunt, Abigail; Shediac, Renee; Chu, Dorna; Pang, Tiffany Yar; Poll, Sarah; McLaughlin, Heather; Seratti, Guillermo Share Save
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta Duran, Ivan; Zieba, Jennifer; Csukasi, Fabiana; Martin, Jorge H.; Wachtell, Davis; Barad, Maya; Dawson, Brian; Fafilek, Bohumil; Jacobsen, Christina M.; Ambrose, Catherine G.; Cohn, Daniel H.; Krejci, Pavel; Lee, Brendan H.; Krakow, Deborah Share Save
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. Share Save
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Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta Lim, Joohyun; Lietman, Caressa; Grol, Matthew W.; Castellon, Alexis; Dawson, Brian; Adeyeye, Mary; Rai, Jyoti; Weis, MaryAnn; Keene, Douglas R.; Schweitzer, Ronen; Park, Dongsu; Eyre, David R.; Krakow, Deborah; Lee, Brendan H. Share Save
Innovations in MD-only physician-scientist training experiences from the Burroughs Wellcome Fund physician-scientist institutional award initiative McElvaine, Allison T.; Hawkins-Salsbury, Jacqueline A.; Arora, Vineet M.; Gladwin, Mark T.; Goldenring, James R.; Huston, David P.; Krakow, Deborah; Rhee, Kyu; Solway, Julian; Steinman, Richard A.; Towler, Dwight A.; Utz, Paul J.; Yokoyama, Wayne M.; Simpson, Rolly L.; Muglia, Louis J.; Permar, Sallie R.; Gbadegesin, Rasheed A. Share Save
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice Kimura, Takeshi; Bosakova, Michaela; Nonaka, Yosuke; Hruba, Eva; Yasuda, Kie; Futakawa, Satoshi; Kubota, Takuo; Fafilek, Bohumil; Gregor, Tomas; Abraham, Sara P.; Gomolkova, Regina; Belaskova, Silvie; Pesl, Martin; Csukasi, Fabiana; Duran, Ivan; Fujiwara, Masatoshi; Kavkova, Michaela; Zikmund, Tomas; Kaiser, Josef; Buchtova, Marcela; Krakow, Deborah; Nakamura, Yoshikazu; Ozono, Keiichi; Krejci, Pavel Share Save
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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia Barad, Maya; Csukasi, Fabiana; Bosakova, Michaela; Martin, Jorge H.; Zhang, Wenjuan; Taylor, S. Paige; Lachman, Ralph S.; Zieba, Jennifer; Bamshad, Michael; Nickerson, Deborah; Chong, Jessica X.; Cohn, Daniel H.; Krejci, Pavel; Krakow, Deborah; Duran, Ivan Share Save
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling Bosakova, Michaela; Abraham, Sara P.; Nita, Alexandru; Hruba, Eva; Buchtova, Marcela; Taylor, S. Paige; Duran, Ivan; Martin, Jorge; Svozilova, Katerina; Barta, Tomas; Varecha, Miroslav; Balek, Lukas; Kohoutek, Jiri; Radaszkiewicz, Tomasz; Pusapati, Ganesh, V; Bryja, Vitezslav; Rush, Eric T.; Thiffault, Isabelle; Nickerson, Deborah A.; Bamshad, Michael J.; Rohatgi, Rajat; Cohn, Daniel H.; Krakow, Deborah; Krejci, Pavel Share Save
Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People Afshar, Yalda; Gaw, Stephanie L.; Flaherman, Valerie J.; Chambers, Brittany D.; Krakow, Deborah; Berghella, Vincenzo; Shamshirsaz, Alireza A.; Boatin, Adeline A.; Aldrovandi, Grace; Greiner, Andrea; Riley, Laura; Boscardin, W. John; Jamieson, Denise J.; Jacoby, Vanessa L. Share Save
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