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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1987 5
1988 7
1989 4
1990 5
1991 7
1992 5
1993 8
1994 8
1995 11
1996 5
1997 9
1998 3
1999 1
2000 6
2001 2
2002 4
2003 9
2004 5
2005 4
2006 6
2007 3
2008 5
2009 3
2010 8
2011 8
2012 6
2013 5
2014 12
2015 7
2016 7
2017 5
2018 3
2019 5
2020 1
2021 4
2024 0

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185 results

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Page 1
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
Cabral WA, Fratzl-Zelman N, Weis M, Perosky JE, Alimasa A, Harris R, Kang H, Makareeva E, Barnes AM, Roschger P, Leikin S, Klaushofer K, Forlino A, Backlund PS, Eyre DR, Kozloff KM, Marini JC. Cabral WA, et al. Matrix Biol. 2020 Aug;90:20-39. doi: 10.1016/j.matbio.2020.02.003. Epub 2020 Feb 26. Matrix Biol. 2020. PMID: 32112888 Free PMC article.
Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Csukasi F, et al. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 Free PMC article.
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
Barnes AM, Ashok A, Makareeva EN, Brusel M, Cabral WA, Weis M, Moali C, Bettler E, Eyre DR, Cassella JP, Leikin S, Hulmes DJS, Kessler E, Marini JC. Barnes AM, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2210-2223. doi: 10.1016/j.bbadis.2019.04.018. Epub 2019 May 2. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31055083 Free PMC article.
HIF-1α metabolically controls collagen synthesis and modification in chondrocytes.
Stegen S, Laperre K, Eelen G, Rinaldi G, Fraisl P, Torrekens S, Van Looveren R, Loopmans S, Bultynck G, Vinckier S, Meersman F, Maxwell PH, Rai J, Weis M, Eyre DR, Ghesquière B, Fendt SM, Carmeliet P, Carmeliet G. Stegen S, et al. Nature. 2019 Jan;565(7740):511-515. doi: 10.1038/s41586-019-0874-3. Epub 2019 Jan 16. Nature. 2019. PMID: 30651640 Free PMC article.
185 results