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Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1
, Pages 165-189
, March 2008
Ehlers-Danlos syndromes and Marfan syndrome
References
- . The Ehlers-Danlos syndrome. In: Royce P, Steinmann B editor. Connective Tissue and its Heritable Disorders. 2nd edn.. New York: Wiley-Liss, Inc.; 2002;p. 431–523
- International nosology of heritable disorders of connective tissue, Berlin, 1986. American Journal of Medical Genetics. 1988;29:581–594
- Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). American Journal of Medical Genetics. 1998;77:31–37
- Aneurysm syndromes caused by mutations in the TGF-beta receptor. New England Journal of Medicine. 2006;355:788–798
- Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics. 1994;8:195–202
- Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics. 2004;35:224–229
- Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:7516–7521
- New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. American Journal of Human Genetics. 2003;73:355–369
- Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Human Molecular Genetics. 2005;14:279–293
- The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Human Mutation. 2005;25:28–37
- A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. New England Journal of Medicine. 2001;345:1167–1175
- COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics. 1995;25:737–739
- A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Human Molecular Genetics. 1996;5:1733–1736
- . Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome. European Journal of Biochemistry. 1988;174:231–237
- Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen. Archives of Dermatology. 1987;123:76–79
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. American Journal of Human Genetics. 2004;74:917–930
- Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. American Journal of Human Genetics. 2000;66:1398–1402
- Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Human Mutation. 2007;28:387–395
- Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. American Journal of Human Genetics. 2003;73:214–217
- Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. American Journal of Human Genetics. 2001;69:989–1001
- Mutations near amino end of alpha 1(I) collagen cause combined OI/EDS by interference with N-propeptide processing. Journal of Biological Chemistry. 2005;280:19259–19269
- . Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. Journal of Biological Chemistry. 2006;281:6463–6470
- Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. American Journal of Human Genetics. 1999;65:308–317
- Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene. Journal of Investigative Dermatology. 2004;123:656–663
- Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility. Journal of Cell Biology. 1997;136:729–743
- Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican. Journal of Cell Biology. 1998;141:1277–1286
- Targeted disruption of dermatopontin causes abnormal collagen fibrillogenesis. Journal of Investigative Dermatology. 2002;119:678–683
- Mimecan/osteoglycin-deficient mice have collagen fibril abnormalities. Molecular Vision. 2002;8:407–415
- Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology & Visual Science. 2005;46:420–426
- A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology. 2006;142:520–521
- . The surgical complications of Ehlers-Danlos syndrome. American Surgeon. 1996;62:869–873
- . Spontaneous arterial perforation: the Ehlers-Danlos specter. Journal of Vascular Surgery. 1987;5:248–255
- . Un cas de déformation congénitale des quatres membres, plus prononcée aux extremités, caractérisée par l'allongement des os avec un certain degré d'amincissement. Bulletins et memoires de la Société medicale des hôpitaux de Paris. 1886;13:220–228
- . Marfan syndrome and other disorders of fibrillin. In: Rimoin DL, Conner JM, Pyeritz RE editor. Principles and Practice of Medical Genetics. 3rd edn.. New York: Churchill Livingstone; 1997;p. 1027–1066
- Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–339
- Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics. 1996;62:417–426
- Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Human Mutation. 2004;24:140–146
- Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Archives of Internal Medicine. 2001;161:2447–2454
- . The Marfan syndrome: joint and skin manifestations are prevalent and correlated. British Journal of Rheumatology. 1995;34:126–131
- . The eye in the Marfan syndrome. Transactions of the American Ophthalmological Society. 1981;79:684–733
- . Two-dimensional echocardiographic aortic root dimensions in normal children and adults. American Journal of Cardiology. 1989;64:507–512
- Life expectancy in the Marfan syndrome. American Journal of Cardiology. 1995;75:157–160
- . Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005;111:e150–e157
- A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genetics in Medicine. 2006;8:401–408
- . Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. American Journal of Medicine. 1983;74:797–807
- . The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. American Journal of Cardiology. 1983;52:353–358
- Primary impairment of left ventricular function in Marfan syndrome. International Journal of Cardiology. 2006;112:353–358
- Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet. 1999;354:910–913
- . Characterization of the symptoms associated with dural ectasia in the Marfan patient. American Journal of Medical Genetics. 2005;134:58–65
- . Clinical manifestations of the Marfan syndrome. International Journal of Dermatology. 1989;28:291–299
- . Pulmonary function in the Marfan syndrome. Chest. 1987;91:408–412
- . Familial thoracic aortic dilatations and dissections: a case control study. Journal of Vascular Surgery. 1997;25:506–511
- Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13–14. Circulation. 2001;103:2461–2468
- Identification of a chromosome 11q23.2–q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103:2469–2475
- Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112:513–520
- The bicuspid aortic valve. Current Problems in Cardiology. 2005;30:470–522
- A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics. 2005;37:275–281
- ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. American Journal of Human Genetics. 2004;75:801–806
- In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics. 2003;40:34–36
- Homocystinuria: clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis. Perspectives in Pediatric Pathology. 1993;17:125–147
- . Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. Journal of the American Medical Association. 1989;262:523–528
- Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. American Journal of Human Genetics. 1998;63:1703–1711
- FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. Journal of Medical Genetics. 2004;41:e56
- . Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genetics. 1995;11:456–458
- Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genetics. 1996;12:209–211
- Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. American Journal of Human Genetics. 2007;80:982–987
- The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Journal of Medical Genetics. 2007;44:472–477
- The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics. 2006;43:769–787
- Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nature Genetics. 2003;33:407–411
- Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics. 1997;17:218–222
- Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nature Medicine. 2007;13:204–210
- Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117–121
- . Guidelines for the diagnosis and management of Marfan syndrome. Heart, Lung and Circulation. 2007;16:28–30
- . Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. New England Journal of Medicine. 1994;330:1335–1341
- Aortic valve-sparing operation in Marfan syndrome: what do we know after a decade?. Annals of Thoracic Surgery. 2007;83:S764–S768discussion S85–S90
- Impact of pectus excavatum on pulmonary function before and after repair with the Nuss procedure. Journal of Pediatric Surgery. 2005;40:174–180
- . Spine deformity correction in Marfan syndrome. Spine. 2002;27:2003–2012
- . Marfan syndrome: orthopedic and genetic review. Current Opinion in Pediatrics. 2002;14:35–41
- . Estrogen treatment of excessively tall girls with Marfan syndrome. Acta Paediatrica Scandinavica. 1988;77:537–541
- . Exercise and the Marfan syndrome. Medicine and Science in Sports and Exercise. 1998;30:S387–S395
PII: S1521-6942(07)00138-6
doi: 10.1016/j.berh.2007.12.005
© 2007 Elsevier Ltd. All rights reserved.
« Previous
Next »
Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1
, Pages 165-189
, March 2008
