Search Results - "Cohn, Daniel"

4D Printing of Shape Memory‐Based Personalized Endoluminal Medical Devices by Zarek, Matt, Mansour, Nicola, Shapira, Shir, Cohn, Daniel

“…The convergence of additive manufacturing and shape‐morphing materials is promising for the advancement of personalized medical devices. The capability to…”
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3D Printing of Shape Memory Polymers for Flexible Electronic Devices by Zarek, Matt, Layani, Michael, Cooperstein, Ido, Sachyani, Ela, Cohn, Daniel, Magdassi, Shlomo

“…The formation of 3D objects composed of shape memory polymers for flexible electronics is described. Layer‐by‐layer photopolymerization of methacrylated…”
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Nosology and classification of genetic skeletal disorders: 2019 revision by Mortier, Geert R., Cohn, Daniel H., Cormier‐Daire, Valerie, Hall, Christine, Krakow, Deborah, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Sangiorgi, Luca, Savarirayan, Ravi, Sillence, David, Superti‐Furga, Andrea, Unger, Sheila, Warman, Matthew L.

“…The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for…”
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Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis by Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H, Li, Bing

“…The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a…”
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Nosology of genetic skeletal disorders: 2023 revision by 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

“…The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in…”
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Reasons for Non-Disclosure of Sexual Orientation Among Behaviorally Bisexual Men: Non-Disclosure as Stigma Management by Schrimshaw, Eric W., Downing, Martin J., Cohn, Daniel J.

“…Although bisexual men are known to be less likely to disclose their sexual orientation to others than gay men, the reasons why bisexual men choose or feel…”
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies by Zhang, Wenjuan, Taylor, S. Paige, Ennis, Hayley A., Forlenza, Kimberly N., Duran, Ivan, Li, Bing, Sanchez, Jorge A. Ortiz, Nevarez, Lisette, Nickerson, Deborah A., Bamshad, Michael, Lachman, Ralph S., Krakow, Deborah, Cohn, Daniel H.

“…Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these…”
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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 by Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Deborah, Cormier-Daire, Valérie

“…Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow…”
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Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis by Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.

“…Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular…”
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A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen by 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

“…ABSTRACT Lysine hydroxylation of type I collagen telopeptides varies from tissue to tissue, and these distinct hydroxylation patterns modulate collagen…”
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The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling by 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

“…Studies have suggested a role for the mammalian (or mechanistic) target of rapamycin (mTOR) in skeletal development and homeostasis, yet there is no evidence…”
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4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta by 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

“…ABSTRACT Osteogenesis imperfecta (OI) is a genetically heterogenous disorder most often due to heterozygosity for mutations in the type I procollagen genes,…”
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TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions by Zieba, Jennifer, Forlenza, Kimberly Nicole, Khatra, Jagteshwar Singh, Sarukhanov, Anna, Duran, Ivan, Rigueur, Diana, Lyons, Karen M, Cohn, Daniel H, Merrill, Amy E, Krakow, Deborah

“…Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations…”
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Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network by Li, Bing, Balasubramanian, Karthika, Krakow, Deborah, Cohn, Daniel H

“…Chondrogenesis is the earliest stage of skeletal development and is a highly dynamic process, integrating the activities and functions of transcription…”
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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta by Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah

“…Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or…”
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HSP47 and FKBP65 cooperate in the synthesis of type I procollagen by Duran, Ivan, Nevarez, Lisette, Sarukhanov, Anna, Wu, Sulin, Lee, Katrina, Krejci, Pavel, Weis, Maryann, Eyre, David, Krakow, Deborah, Cohn, Daniel H

“…Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the…”
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The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery by 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

“…John Wallingford and colleagues combine proteomics, in vivo imaging and genetic analyses to identify a new ciliopathy-associated protein module, which they…”
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Mutations in SERPINF1 cause osteogenesis imperfecta type VI by Homan, Erica P, Rauch, Frank, Grafe, Ingo, Lietman, Caressa, Doll, Jennifer A, Dawson, Brian, Bertin, Terry, Napierala, Dobrawa, Morello, Roy, Gibbs, Richard, White, Lisa, Miki, Rika, Cohn, Daniel H, Crawford, Susan, Travers, Rose, Glorieux, Francis H, Lee, Brendan

“…Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis…”
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Gender and neglected tropical disease front-line workers: Data from 16 countries by Shoemaker, Erica A, Dale, Kelly, Cohn, Daniel A, Kelly, Maureen P, Zoerhoff, Kathryn L, Batcho, Wilfrid E, Bougouma, Clarisse, Nko'Ayissi, Georges B, Meite, Aboulaye, Marfo, Benjamin, Goepogui, André, Telfort, Marc-Aurele, Sianipar, Lita Renata, Traore, Mahamadou, Rimal, Pradip, Alfari, Djibo Aichatou, Anyaike, Chukwuma, Badiane, Fatou N, Kargbo-Labour, Ibrahim, Mwingira, Upendo J, Awoussi, Marcel S, Stelmach, Rachel D, Smith, Carly L, Arney, Jennifer, Faramand, Taroub Harb, Stukel, Diana M, Pou, Bolivar, Rotondo, Lisa A, Kraemer, John D, Baker, Margaret C

“…Delivery of preventive chemotherapy (PC) through mass drug administration (MDA) is used to control or eliminate five of the most common neglected tropical…”
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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome by Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H

“…The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by…”
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