Aortic Aneurysms
Marfan Syndrome
Congenital Contractural Arachnodactyly (Beals' Syndrome)
Systemic Sclerosis (Scleroderma)
Other

 

Aortic Aneurysms

• Genetic basis of thoracic aortic aneurysms and aortic dissections. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139(1):10-6
  
• Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States. J Neurosurg. 2005 Jul;103(1):92-6
  
• Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005 Jul 26;112(4):513-20. Epub 2005 Jul 18
  
• Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families. Neurosurgery. 2005 Apr;56(4):655-61; discussion 655-61
  
• Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005 Mar 22;111(11):e150-7
  
• Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families. Ann Emerg Med. 2004 Jan;43(1):79-82
  
• Incidence of familial intracranial aneurysms in 200 patients: comparison among Caucasian, African-American, and Hispanic populations. Neurosurgery. 2003 Aug;53(2):302-8
  
• Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 Jul 1;107(25):3184-90. Epub 2003 Jun 23
  
• Genetic basis of thoracic aortic aneurysms and dissections. Curr Opin Cardiol. 2002 Nov;17(6):677-83. Review
  
• FBN1 exon 2 splicing error in a patient with Marfan syndrome. Am J Med Genet. 2001 Jun 15;101(2):130-4
  
• Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001 May 22;103(20):2469-75
  
• Genetics of cardiovascular disease. Circulation. 2000 Nov 14;102(20 Suppl 4):IV103-11. Review

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Marfan Syndrome

• FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 May;41(5):e56
• Dolichonychia in women with Marfan syndrome. South Med J. 2004 Apr;97(4):354-8
• Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome. Arch Ophthalmol. 2003 Apr;121(4):579-81
• Genetic disorders of the elastic fiber system. Matrix Biol. 2000 Nov;19(6):471-80. Review

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Congenital Contractural Arachnodactyly (Beals' Syndrome)

 

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002 Jan;19(1):39-48

The metacarpophalangeal profile in a family with congenital contractural arachnodactyly. Genet Couns. 2000;11(1):57-8

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Systemic Sclerosis (Scleroderma)

Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype". J Immunol. 2005 Oct 1;175(7):4555-60

Classification analysis of the transcriptosome of nonlesional cultured dermal fibroblasts from systemic sclerosis patients with early disease. Arthritis Rheum. 2005 Mar;52(3):865-76

Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts. Arthritis Rheum. 2005 Jan;52(1):257-61

Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). Arthritis Rheum. 2004 Jan;50(1):329-32

Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. Arthritis Rheum. 2003 Sep;48(9):2585-92

Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma. Arthritis Rheum. 2002 Nov;46(11):2990-9

Systemic sclerosis (scleroderma): specific autoantigen genes are selectively overexpressed in scleroderma fibroblasts. J Immunol. 2001 Dec 15;167(12):7126-33

Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients with systemic sclerosis (scleroderma). Arthritis Rheum. 2001 Aug;44(8):1855-64

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Other

Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin. J Am Soc Nephrol. 2004 May;15(5):1223-31

Profibrillin-1 maturation by human dermal fibroblasts: proteolytic processing and molecular chaperones. J Cell Biochem. 2003 Oct 15;90(3):641-52

Genetic Susceptibility to Enteroaggregative Escherichia coli Diarrhea: Polymorphism in the Interleukin-8 Promotor Region. J Infect Dis. 2003 Aug 15;188(4):506-11. Epub 2003 Jul 25

A novel mutation in human PAX9 causes molar oligodontia. J Dent Res. 2002 Feb;81(2):129-33

Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas. Blood. 2001 Mar 15;97(6):1549-54

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