Disruption of the elastin gene in adult Williams Syndrome is accompanied by a paradoxical reduction in arterial stiffness

Clinical Science

Volumn 103, Issue 1, 2002, Pages 21-29

  Lacolley, Patrick ^a   Boutouyrie, Pierre ^a   Glukhova, Marina ^a   Daniel Lamaziere, Jean Marie ^a   Plouin, Pierre François ^a   Bruneval, Patrick ^a   Vuong, Phat ^a   Corvol, Pierre ^a   Laurent, Stéphane ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Arterial stiffness; Carotid artery; Elastin; Hypertension; Williams syndrome

Indexed keywords

ALPHA ACTIN; CALDESMON; ELASTIN; LAMININ; MYOSIN HEAVY CHAIN;

ADULT; ARTERIOSCLEROSIS; ARTERY COMPLIANCE; ARTERY INTIMA; ARTERY MEDIA; ARTERY MUSCLE; ARTERY WALL; ARTICLE; BASEMENT MEMBRANE; CAROTID ARTERY OBSTRUCTION; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; COMMON CAROTID ARTERY; ELASTIC FIBER; ELECTRON MICROSCOPY; FEMALE; FIBROGENESIS; FIBROUS DYSPLASIA; GENE DISRUPTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTENSION; IMMUNOFLUORESCENCE; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RENAL ARTERY; SMOOTH MUSCLE FIBER; THICKNESS; WILLIAMS BEUREN SYNDROME; YOUNG MODULUS;

EID: 0036300182     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/cs20010287     Document Type: Article

References (31)

1. Natural history of Williams syndrome: Physical characteristics
2. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
3. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
4. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
5. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
6. The Williams syndrome: Objective definition and diagnosis
7. Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome
8. Molecular genetic approaches to the study of human cardiovascular disease
9. Elastin is an essential determinant of arterial morphogenesis
10. Novel arterial pathology in mice and humans hemizygous for elastin
11. Mechanical properties of the common carotid artery in Williams syndrome
12. FISH analysis in patients with clinical diagnosis of Williams syndrome
13. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
14. Automated detection of local artery wall thickness based on M-line signal processing
15. Association between local pulse pressure, mean blood pressure, and large-artery remodeling
16. Noninvasive determination of age-related changes in the human arterial pulse
17. Elastic modulus of the radial artery wall material is not increased in patients with essential hypertension
18. Phenotypic changes of human smooth muscle cells during development: Late expression of heavy caldesmon and calponin
19. Molecular heterogeneity of basal laminae: Isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere
20. Developmental changes in expression of contractile and cytoskeletal proteins in human aortic smooth muscle
21. Characterization of myosin heavy chains in cultured aorta smooth muscle cells. A comparative study
22. Arterial hemodynamic indexes in Marfan's syndrome
23. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome
24. Generalized arteriopathy in Williams syndrome: An intravascular ultrasound study
25. Fibronectin expression and aortic wall elastic modulus in spontaneously hypertensive rats
26. Arterial wall hypertrophy and stiffness in essential hypertensive patients
27. Connection of smooth muscle cells to elastic lamellae in aorta of spontaneously hypertensive rats
28. Supravalvular aortic stenosis. Clinical and pathologic observations in six patients
29. Intrinsic stiffness of the carotid arterial wall material in essential hypertensives
30. Laminin variants and integrin laminin receptors in developing adult human smooth muscle
31. Impaired synthesis of elastin in walls of aorta and large conduit arteries during early development as an initiating event in pathogenesis of systemic hypertension