Fibrillln mutations in Marfan syndrome and related phenotypes.
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[1] D. Keene,et al. Fibrillin-1: organization in microfibrils and structural properties. , 1996, Journal of molecular biology.
[2] S. Jimenez,et al. A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. , 1996, Genome research.
[3] H. Dietz,et al. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome , 1996, Nature Genetics.
[4] D. Milewicz,et al. Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly , 1995, Nature Genetics.
[5] H. Dietz,et al. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. , 1995, Human molecular genetics.
[6] H. Dietz,et al. Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations , 1995, Nature Medicine.
[7] P. Handford,et al. The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions , 1995, Cell.
[8] R E Pyeritz,et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. , 1995, American journal of human genetics.
[9] U. Francke,et al. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. , 1995, American journal of human genetics.
[10] J. Spring,et al. An extracellular matrix protein of jellyfish homologous to mammalian fibrillins forms different fibrils depending on the life stage of the animal. , 1995, Developmental biology.
[11] M. Raghunath,et al. Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation. , 1995, Journal of molecular biology.
[12] W. Hu,et al. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils , 1995, The Journal of cell biology.
[13] D. Milewicz,et al. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. , 1995, The Journal of clinical investigation.
[14] C. Price,et al. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. , 1995, Human molecular genetics.
[15] P. Handford,et al. The Calcium Binding Properties and Molecular Organization of Epidermal Growth Factor-like Domains in Human Fibrillin-1 (*) , 1995, The Journal of Biological Chemistry.
[16] C. Junien,et al. Reply to “The question of heterogeneity in Marfan syndrome” , 1995, Nature Genetics.
[17] U. Francke,et al. The question of heterogeneity in Marfan syndrome , 1995, Nature Genetics.
[18] L. Peltonen,et al. Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly. , 1995, Journal of cell science.
[19] H. Dietz,et al. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. , 1995, The Journal of clinical investigation.
[20] E. Smiley,et al. Primary Structure and Developmental Expression of Fbn-1, the Mouse Fibrillin Gene (*) , 1995, The Journal of Biological Chemistry.
[21] J. Weissenbach,et al. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25 , 1994, Nature Genetics.
[22] R. Glanville,et al. Calcium binding, hydroxylation, and glycosylation of the precursor epidermal growth factor-like domains of fibrillin-1, the Marfan gene protein. , 1994, The Journal of biological chemistry.
[23] L. Peltonen,et al. Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome. , 1994, The Biochemical journal.
[24] J. Womack,et al. Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10. , 1994, Genomics.
[25] C. Hayward,et al. A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. , 1994, Molecular and cellular probes.
[26] D. Viljoen. Congenital contractural arachnodactyly (Beals syndrome). , 1994, Journal of medical genetics.
[27] H. Dietz,et al. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. , 1994, The New England journal of medicine.
[28] U. Francke,et al. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. , 1994, The Journal of clinical investigation.
[29] C. Kielty,et al. Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome , 1994, The Journal of cell biology.
[30] Gilchrist Dm. Marfan syndrome or Marfan-like connective-tissue disorder. , 1994 .
[31] D. Weeks,et al. Efficient strategies for genomic searching using the affected-pedigree-member method of linkage analysis. , 1994, American journal of human genetics.
[32] D. Milewicz,et al. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. , 1994, American journal of human genetics.
[33] R. Mecham,et al. Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices , 1994, The Journal of cell biology.
[34] L. Peltonen,et al. A novel mutation of the fibrillin gene causing ectopia lentis. , 1994, Genomics.
[35] C. Kielty,et al. The role of calcium in the organization of fibrillin microfibrils , 1993, FEBS letters.
[36] U. Francke,et al. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. , 1993, Human molecular genetics.
[37] B. Sykes,et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. , 1993, Human molecular genetics.
[38] H. Dietz,et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. , 1993, Genomics.
[39] H. Dietz,et al. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. , 1993, Genomics.
[40] C. Junien,et al. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. , 1993, American journal of human genetics.
[41] K. Klimpel,et al. Anthrax toxin protective antigen is activated by a cell surface protease with the sequence specificity and catalytic properties of furin. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[42] L. Peltonen,et al. Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[43] R. Glanville,et al. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. , 1991, The Journal of biological chemistry.
[44] Ada Hamosh,et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.
[45] M. Mattei,et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes , 1991, Nature.
[46] P. Barr,et al. Mammalian subtilisins: The long-sought dibasic processing endoproteases , 1991, Cell.
[47] D. Sillence,et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. , 1988, American journal of medical genetics.
[48] E. Engvall,et al. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils , 1986, The Journal of cell biology.
[49] Thierry Soussi,et al. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene , 1997, Nucleic Acids Res..
[50] J. Rosenbloom,et al. Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues. , 1995, Connective tissue research.
[51] H. Dietz,et al. Marfan's syndrome and other microfibrillar diseases. , 1994, Advances in human genetics.
[52] C. Hayward,et al. Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques , 1994, Human mutation.
[53] L. Peltonen,et al. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome , 1994, Nature Genetics.
[54] P. Byers,et al. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. , 1992, The Journal of clinical investigation.
[55] K. Hirschhorn,et al. Advances in Human Genetics , 1982, Springer US.