Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly

[1]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[2]  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.

[3]  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.

[4]  W. Hu,et al.  Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils , 1995, The Journal of cell biology.

[5]  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.

[6]  R. Mecham,et al.  Microfibril-associated glycoprotein binds to the carboxyl-terminal domain of tropoelastin and is a substrate for transglutaminase. , 1994, The Journal of biological chemistry.

[7]  M. Muenke,et al.  Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. , 1994, Genomics.

[8]  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.

[9]  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.

[10]  E. Davis.  Immunolocalization of microfibril and microfibril-associated proteins in the subendothelial matrix of the developing mouse aorta. , 1994, Journal of cell science.

[11]  U. Francke,et al.  Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. , 1993, Human molecular genetics.

[12]  D. Milewicz,et al.  Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2). , 1993, Human molecular genetics.

[13]  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.

[14]  D. Viljoen,et al.  Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. , 1992, The New England journal of medicine.

[15]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.

[16]  M. Mattei,et al.  Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes , 1991, Nature.

[17]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[18]  P. Chomczyński,et al.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.

[19]  E. Engvall,et al.  Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils , 1986, The Journal of cell biology.

[20]  P. Macleod,et al.  Congenital contractural arachnodactyly. A heritable disorder of connective tissue distinct from Marfan syndrome. , 1973, American journal of diseases of children.

[21]  H. Dietz,et al.  Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF‐like domains , 1992, Human mutation.

[22]  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.

[23]  I. Campbell,et al.  The solution structure of human epidermal growth factor , 1987, Nature.

[24]  H. Lubs,et al.  A form of X-linked mental retardation with marfanoid habitus. , 1984, American journal of medical genetics.

[25]  Devereux Rb,et al.  Genetics of mitral valve prolapse. , 1983 .

[26]  Shprintzen Rj,et al.  A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. , 1982 .