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Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 416, doi. 10.1007/s004390100573
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- Publication type:
- Article
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12–13 region of fibrillin-1.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 8, p. 907, doi. 10.1093/hmg/ddm035
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- Publication type:
- Article
An N-glycan on the C2 domain of JAGGED1 is important for Notch activation.
- Published in:
- Science Signaling, 2022, v. 15, n. 755, p. 1, doi. 10.1126/scisignal.abo3507
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- Publication type:
- Article
Solution structure of the transforming growth factor ß-binding protein-like module, a domain associated with matrix fibrils.
- Published in:
- EMBO Journal, 1997, v. 16, n. 22, p. 6659, doi. 10.1093/emboj/16.22.6659
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- Publication type:
- Article
Effects of proline cis-trans isomerization on TB domain secondary structure.
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- Protein Science: A Publication of the Protein Society, 1998, v. 7, n. 10, p. 2127, doi. 10.1002/pro.5560071009
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- Publication type:
- Article
A conserved face of the Jagged/Serrate DSL domain is involved in Notch trans-activation and cis-inhibition.
- Published in:
- Nature Structural & Molecular Biology, 2008, v. 15, n. 8, p. 849, doi. 10.1038/nsmb.1457
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- Publication type:
- Article
New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 7, p. 827, doi. 10.1042/BJ20151108
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- Publication type:
- Article
NMR Spectroscopic and Bioinformatic Analyses of the LTBP1 C-Terminus Reveal a Highly Dynamic Domain Organisation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087125
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- Publication type:
- Article
Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis.
- Published in:
- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0248532
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- Publication type:
- Article
Letter to the Editor: <sup>1</sup>H, <sup>13</sup>C, and <sup>15</sup>N Resonance Assignments of Human Notch-1 Calcium Binding EGF Domains 11-13.
- Published in:
- Journal of Biomolecular NMR, 2004, v. 29, n. 3, p. 443, doi. 10.1023/B:JNMR.0000032521.42723.1a
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- Publication type:
- Article
The conserved C2 phospholipid‐binding domain in Delta contributes to robust Notch signalling.
- Published in:
- EMBO Reports, 2021, v. 22, n. 10, p. 1, doi. 10.15252/embr.202152729
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- Publication type:
- Article
The CD46-Jagged1 interaction is critical for human T<sub>H</sub>1 immunity.
- Published in:
- Nature Immunology, 2012, v. 13, n. 12, p. 1213, doi. 10.1038/ni.2454
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- Publication type:
- Article
CRB1 mutation spectrum in inherited retinal dystrophies.
- Published in:
- Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
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- Publication type:
- Article
Aspartate/asparagine-β-hydroxylase crystal structures reveal an unexpected epidermal growth factor-like domain substrate disulfide pattern.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12711-7
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- Publication type:
- Article
H, C and N assignments of EGF domains 4 to 7 of human Notch-1.
- Published in:
- Biomolecular NMR Assignments, 2015, v. 9, n. 2, p. 275, doi. 10.1007/s12104-014-9591-x
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- Publication type:
- Article
H, C and N assignments of EGF domains 8-11 of human Notch-1.
- Published in:
- Biomolecular NMR Assignments, 2015, v. 9, n. 2, p. 375, doi. 10.1007/s12104-015-9613-3
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- Publication type:
- Article
Backbone H, C and N resonance assignment of the C-terminal EGF-cbEGF pair of LTBP1 and flanking residues.
- Published in:
- Biomolecular NMR Assignments, 2014, v. 8, n. 1, p. 159, doi. 10.1007/s12104-013-9474-6
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- Publication type:
- Article
H, C and N assignments of the four N-terminal domains of human fibrillin-1.
- Published in:
- Biomolecular NMR Assignments, 2014, v. 8, n. 1, p. 75, doi. 10.1007/s12104-012-9456-0
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- Publication type:
- Article
H, C and N resonance assignments for the fibrillin-1 EGF2-EGF3-hybrid1-cbEGF1 four-domain fragment.
- Published in:
- Biomolecular NMR Assignments, 2014, v. 8, n. 1, p. 189, doi. 10.1007/s12104-013-9481-7
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- Publication type:
- Article
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 15, p. 4454, doi. 10.1093/hmg/ddv181
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- Publication type:
- Article
Microfibrils, elastin fibres and collagen fibres in the human intervertebral disc and bovine tail disc.
- Published in:
- Journal of Anatomy, 2007, v. 210, n. 4, p. 460, doi. 10.1111/j.1469-7580.2007.00707.x
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- Publication type:
- Article
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2047, doi. 10.1002/ajmg.a.36011
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- Publication type:
- Article
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2269, doi. 10.1093/hmg/ddg241
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- Publication type:
- Article
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 7, p. 727, doi. 10.1093/hmg/ddg081
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- Publication type:
- Article
Structural and functional dissection of the interplay between lipid and Notch binding by human Notch ligands.
- Published in:
- EMBO Journal, 2017, v. 36, n. 15, p. 2204, doi. 10.15252/embj.201796632
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- Publication type:
- Article
Familial spontaneous pneumothorax and FBN1 mutations.
- Published in:
- 2004
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- Publication type:
- letter