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)
Get full text
Journal Article
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)
Get full text
Journal Article
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Marom, Ronit, Burrage, Lindsay C., Venditti, Rossella, Clément, Aurélie, Blanco-Sánchez, Bernardo, Jain, Mahim, Scott, Daryl A., Rosenfeld, Jill A., Sutton, V. Reid, Shinawi, Marwan, Mirzaa, Ghayda, DeVile, Catherine, Roberts, Rowenna, Calder, Alistair D., Allgrove, Jeremy, Grafe, Ingo, Lanza, Denise G., Li, Xiaohui, Joeng, Kyu Sang, Lee, Yi-Chien, Song, I-Wen, Sliepka, Joseph M., Batkovskyte, Dominyka, Washington, Megan, Dawson, Brian C., Jin, Zixue, Jiang, Ming-Ming, Chen, Shan, Chen, Yuqing, Tran, Alyssa A., Emrick, Lisa T., Murdock, David R., Hanchard, Neil A., Zapata, Gladys E., Mehta, Nitesh R., Weis, Mary Ann, Scott, Abbey A., Tremp, Brenna A., Phillips, Jennifer B., Wegner, Jeremy, Taylor-Miller, Tashunka, Gibbs, Richard A., Muzny, Donna M., Jhangiani, Shalini N., Hicks, John, Stottmann, Rolf W., Dickinson, Mary E., Seavitt, John R., Heaney, Jason D., Eyre, David R., Westerfield, Monte, De Matteis, Maria Antonietta, Lee, Brendan
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
Get full text
Journal Article
Evaluation of Effective Mass in InGaAsN/GaAs Quantum Wells Using Transient Spectroscopy
Stuchlikova, Lubica, Sciana, Beata, Kosa, Arpad, Matus, Matej, Benko, Peter, Marek, Juraj, Donoval, Martin, Dawidowski, Wojciech, Radziewicz, Damian, Weis, Martin
Published in Materials (30.10.2022)
Published in Materials (30.10.2022)
Get full text
Journal Article
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix
Valli, M, Barnes, AM, Gallanti, A, Cabral, WA, Viglio, S, Weis, MA, Makareeva, E, Eyre, D, Leikin, S, Antoniazzi, F, Marini, JC, Mottes, M
Published in Clinical genetics (01.11.2012)
Published in Clinical genetics (01.11.2012)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Homicide and Suicide Rates—National Violent Death Reporting System, Six States, 2003
Serpi, T L, Wiersema, B, Hackman, H, Ortega, L
Published in JAMA : the journal of the American Medical Association (25.05.2005)
Published in JAMA : the journal of the American Medical Association (25.05.2005)
Get full text
Journal Article
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)
Get full text
Journal Article
Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation
Weis, M A, Wilkin, D J, Kim, H J, Wilcox, W R, Lachman, R S, Rimoin, D L, Cohn, D H, Eyre, D R
Published in The Journal of biological chemistry (20.02.1998)
Published in The Journal of biological chemistry (20.02.1998)
Get full text
Journal Article
Incorporation of Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia
Fernandes, Russell J., Wilkin, Douglas J., Weis, Mary Ann, Wilcox, William R., Cohn, Daniel H., Rimoin, David L., Eyre, David R.
Published in Archives of biochemistry and biophysics (15.07.1998)
Published in Archives of biochemistry and biophysics (15.07.1998)
Get full text
Journal Article
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis
Bogaert, R, Tiller, G E, Weis, M A, Gruber, H E, Rimoin, D L, Cohn, D H, Eyre, D R
Published in The Journal of biological chemistry (05.11.1992)
Published in The Journal of biological chemistry (05.11.1992)
Get full text
Journal Article
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2AI) in a family with spondyloepiphyseal dysplasia congenita
TILLER, G. E, WEIS, M. A, POLUMBO, P. A, GRUBER, H. E, RIMOIN, D. L, COHN, D. H, EYRE, D. R
Published in American journal of human genetics (01.02.1995)
Get full text
Published in American journal of human genetics (01.02.1995)
Journal Article
Collagen crosslinks and mineral crystallinity in bone of patients with osteogenesis imperfecta
Vetter, U, Weis, M A, Mörike, M, Eanes, E D, Eyre, D R
Published in Journal of bone and mineral research (01.02.1993)
Published in Journal of bone and mineral research (01.02.1993)
Get more information
Journal Article
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype
Starman, B J, Eyre, D, Charbonneau, H, Harrylock, M, Weis, M A, Weiss, L, Graham, Jr, J M, Byers, P H
Published in The Journal of clinical investigation (01.10.1989)
Published in The Journal of clinical investigation (01.10.1989)
Get full text
Journal Article