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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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3360 Abstracts
Research
MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover.
Holmbeck K, Bianco P, Caterina J, Yamada S, Kromer M ...
Cell Vol 99(1)
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Date 01 Oct 1999
Research
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders...
Downing A K, Knott V, Werner J M, Cardy C M, Campbell I D ...
Cell Vol 85(4)
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Date 17 May 1996
Research
Small nuclear ribonucleoprotein particle assembly in vivo: demonstration of a 6S RNA-free core precursor and posttranslational modification.
Fisher D E, Conner G E, Reeves W H, Wisniewolski R, Blobel G
Cell Vol 42(3)
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Date 01 Oct 1985
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A human autoimmune protein associated with U1 RNA contains a region of homology that is cross-reactive with retroviral p30gag antigen.
Query C C, Keene J D
Cell Vol 51(2)
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Date 23 Oct 1987
Research
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello Roy, Bertin Terry K, Chen Yuqing, Hicks John, Tonachini Laura ...
Cell Vol 127(2)
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Date 20 Oct 2006
Research
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
Ewart A K, Morris C A, Atkinson D, Jin W, Sternes K ...
Nature genetics Vol 5(1)
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Date 01 Sep 1993
Research
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.
Andrikopoulos K, Liu X, Keene D R, Jaenisch R, Ramirez F
Nature genetics Vol 9(1)
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Date 01 Jan 1995
Research
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Lyons Jonathan J, Yu Xiaomin, Hughes Jason D, Le Quang T, Jamil Ali ...
Nature genetics Vol 48(12)
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Date 01 Dec 2016
Research
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar Ingrid M B H, Oldenburg Rogier A, Pals Gerard, Roos-Hesselink Jolien W, de Graaf Bianca M ...
Nature genetics Vol 43(2)
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Date 01 Feb 2011
Research
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.
Mao Jau Ren, Taylor Glen, Dean Willow B, Wagner Diane R, Afzal Veena ...
Nature genetics Vol 30(4)
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Date 01 Apr 2002
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