spacer gif spacer gif spacer gif spacer gif spacer gif
 QUICK SEARCH:   [advanced]


spacer gif
     Home     Help     Feedback     Subscriptions     Archive     Search     Table of Contents    


This Article
Right arrow Summary Freely available
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Kielty, C. M.
Right arrow Articles by Peltonen, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kielty, C. M.
Right arrow Articles by Peltonen, L.
Social Bookmarking
 Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?
Aoyama, T., Tynan, K., Dietz, H. C., Francke, U. and Furthmayr, H.Fig. 5 (1994). Microfibrillar periodicity was 48 nm (range 45-50 nm).(1994). Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum. Mol. Genet 2, 2135-2140.[Abstract/Free Full Text]

Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J. and Rutter, W. J (1979). Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18, 5294-5299.[Medline]

Cleary, E. G. and Gibson, M. A (1983). Elastin-associated microfibrils and microfibrillar proteins. Int. Rev. Connect. Tiss. Res 10, 97-209.[Medline]

Dietz, H. C., Cutting, G. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., Puffenberger, E. G., Hamosh, A., Nanthakumar, E. J., Curristan, S. M., Stetten, G., Meyers, D. A. and Francomano, C. A (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352, 337-339.[Medline]

Dietz, H. C., Saraiva, J. M., Pyeritz, R. E., Cutting, G. R. and Francomano, C. A (1992). Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum. Mutat 1, 366-374.[Medline]

Dietz, H. C., Pyeritz, R. E., Puffenberger, E. G., Kendzior, R. J., Corson, G. M., Maslen, C. L., Sakai, L. Y., Francomano, C. A. and Cutting, G. R (1992). Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J. Clin. Invest 89, 1674-1680.

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E. and Cutting, G. R (1993). The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259, 680-683.[Abstract/Free Full Text]

Dietz, H. C., McIntosh, I., Sakai, L. Y., Corson, G. M., Chalberg, S. C., Pyeritz, R. E. and Francomano, C. A (1993). Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17, 468-475.[Medline]

Fleischmajer, R., Contard, P., Schwartz, E., MacDonald, E. D., Jacobs, L. and Sakai, L. Y (1991). Elastin-associated microfibrils (10 nm) in a three-dimensional fibroblast culture. J. Invest. Dermatol 97, 639-643.

Gibson, M. A., Sandberg, L. B., Grosso, L. E. and Cleary, E. G (1991). Complementary DNA cloning establishes microfibril-associated glycoprotein (MAGP) to be a discrete component of elastin-associated microfibrils. J. Biol. Chem 266, 7596-7601.[Abstract/Free Full Text]

Godfrey, M., Vandemark, N., Wang, M., Vellnov, M., Wargowski, D., Droste, S. and Rao, V. H (1993). Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am. J. Hum. Genet 49, 662-667.

Hayward, C., Porteous, M. E. M. and Brock, D. J. H (1994). Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques. Hum. Mutat 3, 159-162.[Medline]

Hewitt, D. R., Lynch, J. R., Smith, R. and Sykes, B (1993). A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. Hum. Mol. Genet 2, 475-477.[Free Full Text]

Horrigan, S. K., Rich, C. B., Streeten, B. W., Li, Z. Y. and Foster, J. A (1992). Characterisation of an associated microfibril protein through recombinant DNA techniques. J. Biol. Chem 267, 10087-10095.[Abstract/Free Full Text]

Ikonen, E., Manninen, T., Peltonen, L. and Syv\212nen, A-C (1992). Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing. PCR Meth. Applicat 1, 234-240.[Medline]

Kainulainen, K., Sakai, L. Y., Child, A. H., Pope, F. M., Puhakka, L., Ryhanen, L., Palotie, A., Kaitila, I. and Peltonen, L (1992). Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc. Nat. Acad. Sci. USA 89, 5917-5921.[Abstract/Free Full Text]

Kainulainen, K., Karttunen, K., Puhakka, L., Sakai, L. and Peltonen, L (1994). Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet 6, 64-69.[Medline]

Keene, D. R., Maddox, B. K., Kuo, H.-J., Sakai, L. Y. and Glanville, R. W (1991). Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular microfibrils. J. Histochem. Cytochem 39, 441-449.[Abstract]

Kielty, C. M., Boot-Handford, R. P., Ayad, S., Shuttleworth, C. A. and Grant, M. E (1990). Molecular composition of type VI collagen. Biochem J 272, 787-795.[Medline]

Kielty, C. M., Cummings, C., Whittaker, S. P., Shuttleworth, C. A. and Grant, M. E (1991). Isolation and ultrastructural analysis of microfibrillar structures from foetal bovine elastic tissues. J. Cell Sci 99, 797-807.[Abstract]

Kielty, C. M., Berry, L., Whittaker, S. P., Grant, M. E. and Shuttleworth, C. A (1993). Microfibrillar assemblies of foetal bovine skin. Matrix 13, 103-112.[Medline]

Kielty, C. M. and Shuttleworth, C. A (1994). Abnormal fibrillin assembly bydermal fibroblasts from two patients with Marfan syndrome. J. Cell Biol 124, 997-1004.[Abstract/Free Full Text]

Kielty, C. M., Phillips, J. E., Child, A. H., Pope, F. M. and Shuttleworth, C. A (1994). Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts. Matrix Biol 14, 191-199.[Medline]

Laemmli, U. K (1970). Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature 227, 680-685.[Medline]

Lee, B., Godfrey, M., Vitale, E., Hori, H., Mattei, M.-G., Sarfarazi, M., Tsipouras, P., Ramirez F. and Hollister, D. W (1991). Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352, 330-334.[Medline]

Milewicz, D. M., Pyeritz, R. E., Crawford. E. S. and Byers, P. H (1992). Marfan syndrome: defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J. Clin. Invest 89, 79-86.

Milewicz, D. M. and Duvic, M (1994). Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am. J. Hum. Genet 54, 447-453.[Medline]

Nelson, L. B. and Maumanee, I. H (1982). Ectopia lentis. Surv. Ophthalmol 27, 143-160.[Medline]

Pereira, L., D'Alessio, M., Ramirez, F., Lynch, J. R., Sykes, B., Pangilinan, T. and Bonadio, J (1993). Genomic organisation of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum. Mol. Genet 2, 961-968.[Abstract/Free Full Text]

Raghunath, M., Kielty, C. M., Kainulainen, K., Child, A., Peltonen, L. and Steinmann, B (1994). Analyses of truncated fibrillin caused by a 366bp deletion in the FBN1 gene resulting in Marfan syndrome. Biochem. J 302, 889-896.

Ramirez, F., Pereira, L., Zhang, H. and Lee, B (1993). The fibrillin-Marfan syndrome connection. BioEssays 15, 589-594.[Medline]

Sakai, L. Y., Keene, D. R. and Engvall, E (1986). Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J. Cell Biol 103, 2499-2509.[Abstract/Free Full Text]

Sakai, L. Y., Keene, D. R., Glanville, R. W. and Bachinger, H. P (1991). Purification and partial characterisation of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J. Biol. Chem 266, 14763-14770.[Abstract/Free Full Text]

Syv\212nen, A-C., Aalto-Setala, K., Kontula, K. and Soderlund, H (1989). Direct sequencing of affinity-captured amplified human DNA: application to the detection of apolipoprotein E polymorphism. FEBS Lett 258, 71-74.[Medline]

Syv\212nen, A-C., Aalto-Setala, K., Harju, L., Kontula, K. and Soderlund, H (1990). A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8, 684-692.[Medline]

Tsipouras P.,Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A. H., Godfrey, M., Devereux, R. B., Hewitt, D., Steinmann, B., Viljoen, D., Sykes, B. C., Kilpatrick, M. and Ramirez, F (1992). Linkage analysis demonstrates that Marfan syndrome, dominant ectopia lentis and congenital contractural arachnodactyly are linked to the fibrillin genes on chromosomes 15 and 5. New Eng. J. Med 326, 905-909.[Abstract]

Tynan, K.,Comeau, K., Pearson, M., Wilgenbus, P., Levitt, D., Gasner, C., Berg, M. A., Miller, D. C. and Francke, U (1993). Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum. Mol. Genet 2, 1813-1821.[Abstract/Free Full Text]

Vandenplas, S., Wild, I., Grobler-Rabie, A., Brebner, K., Ricketts, M., Wallis, G., Bester, A., Boyd, C. and Mathew, C (1984). Blot hybridization analysis of genomic DNA. J. Med. Genet 21, 164-172.[Abstract/Free Full Text]

Wallace, R. N., Streeten, B. W. and Hanna, R. B (1991). Rotary shadowing of elastic system microfibrils in the ocular zonule, vitreous and ligamentum nuchae. Curr. Eye Res 10, 99-109.[Medline]

Wright, D. W. and Mayne, R (1988). Vitreous humor of chicken contains two fibrillar systems: An analysis of their structure. J. Ultrastruct. Mol. Struct. Res 100, 224-234.[Medline]

Zhang, H., Apfelroth, S. D., Hu, W., Davis, E. C., Sanguineti, C., Bonadio, J., Mecham, R. P. and Ramirez, F (1994). Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J. Cell Biol 124, 855-863.[Abstract/Free Full Text]


Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
J. Biol. Chem.Home page
C.-L. Kuo, Z. Isogai, D. R. Keene, N. Hazeki, R. N. Ono, G. Sengle, H. Peter Bachinger, and L. Y. Sakai
Effects of Fibrillin-1 Degradation on Microfibril Ultrastructure
J. Biol. Chem., February 9, 2007; 282(6): 4007 - 4020.
[Abstract] [Full Text] [PDF]


Home page
J. Biol. Chem.Home page
K. T. Mellody, L. J. Freeman, C. Baldock, T. A. Jowitt, V. Siegler, B. D. E. Raynal, S. A. Cain, T. J. Wess, C. A. Shuttleworth, and C. M. Kielty
Marfan Syndrome-causing Mutations in Fibrillin-1 Result in Gross Morphological Alterations and Highlight the Structural Importance of the Second Hybrid Domain
J. Biol. Chem., October 20, 2006; 281(42): 31854 - 31862.
[Abstract] [Full Text] [PDF]


Home page
JCBHome page
I. Nunes, P.-E. Gleizes, C. N. Metz, and D. B Rifkin
Latent Transforming Growth Factor-{beta} Binding Protein Domains Involved in Activation and Transglutaminase-dependent Cross-Linking of Latent Transforming Growth Factor-{beta}
J. Cell Biol., March 10, 1997; 136(5): 1151 - 1163.
[Abstract] [Full Text] [PDF]


Home page
Genome ResHome page
L Karttunen, L Lonnqvist, M Godfrey, L Peltonen, and A C Syvanen
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Genome Res., May 1, 1996; 6(5): 392 - 403.
[Abstract] [PDF]


Home page
Genome ResHome page
L D Siracusa, R McGrath, Q Ma, J J Moskow, J Manne, P J Christner, A M Buchberg, and S A Jimenez
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
Genome Res., April 1, 1996; 6(4): 300 - 313.
[Abstract] [PDF]


This Article
Right arrow Summary Freely available
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Kielty, C. M.
Right arrow Articles by Peltonen, L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kielty, C. M.
Right arrow Articles by Peltonen, L.
Social Bookmarking
 Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?