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WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
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Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (01.05.2023)
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Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of human genetics (06.04.2012)
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A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen
Duran, Ivan, Martin, Jorge H, Weis, Mary Ann, Krejci, Pavel, Konik, Peter, Li, Bing, Alanay, Yasemin, Lietman, Caressa, Lee, Brendan, Eyre, David, Cohn, Daniel H, Krakow, Deborah
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Csukasi, Fabiana, Duran, Ivan, Barad, Maya, Barta, Tomas, Gudernova, Iva, Trantirek, Lukas, Martin, Jorge H, Kuo, Caroline Y, Woods, Jeremy, Lee, Hane, Cohn, Daniel H, Krejci, Pavel, Krakow, Deborah
Published in Science translational medicine (19.09.2018)
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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
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Li, Bing, Balasubramanian, Karthika, Krakow, Deborah, Cohn, Daniel H
Published in BMC genomics (20.12.2017)
Published in BMC genomics (20.12.2017)
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Published in American journal of human genetics (09.04.2010)
Published in American journal of human genetics (09.04.2010)
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-Lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B
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Published in Nature genetics (01.06.2016)
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HSP47 and FKBP65 cooperate in the synthesis of type I procollagen
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Published in Human molecular genetics (01.04.2015)
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Published in Journal of bone and mineral research (01.12.2011)
Published in Journal of bone and mineral research (01.12.2011)
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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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Published in PloS one (19.12.2019)
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