Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Published in Nature medicine (01.04.2019)
Published in Nature medicine (01.04.2019)
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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Christiansen, Helena E., Schwarze, Ulrike, Pyott, Shawna M., AlSwaid, Abdulrahman, Al Balwi, Mohammed, Alrasheed, Shatha, Pepin, Melanie G., Weis, Mary Ann, Eyre, David R., Byers, Peter H.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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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
Published in Journal of bone and mineral research (01.06.2017)
Published in Journal of bone and mineral research (01.06.2017)
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Location of 3-Hydroxyproline Residues in Collagen Types I, II, III, and V/XI Implies a Role in Fibril Supramolecular Assembly
Weis, Mary Ann, Hudson, David M., Kim, Lammy, Scott, Melissa, Wu, Jiann-Jiu, Eyre, David R.
Published in The Journal of biological chemistry (22.01.2010)
Published in The Journal of biological chemistry (22.01.2010)
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Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome
Machol, Keren, Polak, Urszula, Weisz-Hubshman, Monika, Song, I-Wen, Chen, Shan, Jiang, Ming-Ming, Chen-Evenson, Yuqing, Weis, Mary Ann E, Keene, Douglas R, Eyre, David R, Lee, Brendan H
Published in Human molecular genetics (22.04.2022)
Published in Human molecular genetics (22.04.2022)
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Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta
Lindert, Uschi, Weis, Mary Ann, Rai, Jyoti, Seeliger, Frank, Hausser, Ingrid, Leeb, Tosso, Eyre, David, Rohrbach, Marianne, Giunta, Cecilia
Published in The Journal of biological chemistry (17.07.2015)
Published in The Journal of biological chemistry (17.07.2015)
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The kyphoscoliotic type of Ehlers–Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine
Eyre, David, Shao, Ping, Ann Weis, Mary, Steinmann, Beat
Published in Molecular genetics and metabolism (01.07.2002)
Published in Molecular genetics and metabolism (01.07.2002)
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Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues
Homan, Erica P, Lietman, Caressa, Grafe, Ingo, Lennington, Jennifer, Morello, Roy, Napierala, Dobrawa, Jiang, Ming-Ming, Munivez, Elda M, Dawson, Brian, Bertin, Terry K, Chen, Yuqing, Lua, Rhonald, Lichtarge, Olivier, Hicks, John, Weis, Mary Ann, Eyre, David, Lee, Brendan H L
Published in PLoS genetics (01.01.2014)
Published in PLoS genetics (01.01.2014)
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Covalent Cross-linking of the NC1 Domain of Collagen Type IX to Collagen Type II in Cartilage
Eyre, David R., Pietka, Terri, Weis, Mary Ann, Wu, Jiann-Jiu
Published in The Journal of biological chemistry (23.01.2004)
Published in The Journal of biological chemistry (23.01.2004)
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A specific immunoassay for monitoring human bone resorption: quantitation of type I collagen cross-linked N-telopeptides in urine
Hanson, D A, Weis, M A, Bollen, A M, Maslan, S L, Singer, F R, Eyre, D R
Published in Journal of bone and mineral research (01.11.1992)
Published in Journal of bone and mineral research (01.11.1992)
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HIF-1α metabolically controls collagen synthesis and modification in chondrocytes
Stegen, Steve, Laperre, Kjell, Eelen, Guy, Rinaldi, Gianmarco, Fraisl, Peter, Torrekens, Sophie, Van Looveren, Riet, Loopmans, Shauni, Bultynck, Geert, Vinckier, Stefan, Meersman, Filip, Maxwell, Patrick H., Rai, Jyoti, Weis, MaryAnn, Eyre, David R., Ghesquière, Bart, Fendt, Sarah-Maria, Carmeliet, Peter, Carmeliet, Geert
Published in Nature (London) (24.01.2019)
Published in Nature (London) (24.01.2019)
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Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage
Matsui, Yoshito, Wu, Jiann-Jiu, Ann Weis, Mary, Pietka, Terri, Eyre, David R.
Published in Matrix biology (01.04.2003)
Published in Matrix biology (01.04.2003)
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Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta
Grafe, Ingo, Yang, Tao, Alexander, Stefanie, Homan, Erica P, Lietman, Caressa, Jiang, Ming Ming, Bertin, Terry, Munivez, Elda, Chen, Yuqing, Dawson, Brian, Ishikawa, Yoshihiro, Weis, Mary Ann, Sampath, T Kuber, Ambrose, Catherine, Eyre, David, Bächinger, Hans Peter, Lee, Brendan
Published in Nature medicine (01.06.2014)
Published in Nature medicine (01.06.2014)
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Gistelinck, Charlotte, Kwon, Ronald Y., Malfait, Fransiska, Symoens, Sofie, Harris, Matthew P., Henke, Katrin, Hawkins, Michael B., Fisher, Shannon, Sips, Patrick, Guillemyn, Brecht, Bek, Jan Willem, Vermassen, Petra, De Saffel, Hanna, Witten, Paul Eckhard, Weis, MaryAnn, De Paepe, Anne, Eyre, David R., Willaert, Andy, Coucke, Paul J.
Published in Proceedings of the National Academy of Sciences - PNAS (21.08.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (21.08.2018)
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Dominant mutations in the type II collagen gene, COL2A1 , produce spondyloepimetaphyseal dysplasia, Strudwick type
Tiller, George E, Polumbo, Paula A, Weis, Mary Ann, Bogaert, Ray, Lachman, Ralph S, Cohn, Daniel H, Rimoin, David L, Eyre, David R
Published in Nature genetics (01.09.1995)
Published in Nature genetics (01.09.1995)
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