Obstructive vascular disease is an important health problem in the industrialized world. Through a series of molecular genetic studies, we demonstrated that loss-of-function mutations in one elastin allele cause an inherited obstructive arterial disease, supravalvular aortic stenosis (SVAS). To define the mechanism of elastin's effect, we generated mice hemizygous for the elastin gene (ELN +/-). Although ELN mRNA and protein were reduced by 50% in ELN +/- mice, arterial compliance at physiologic pressures was nearly normal. This discrepancy was explained by a paradoxical increase of 35% in the number of elastic lamellae and smooth muscle in ELN +/- arteries. Examination of humans with ELN hemizygosity revealed a 2. 5-fold increase in elastic lamellae and smooth muscle. Thus, ELN hemizygosity in mice and humans induces a compensatory increase in the number of rings of elastic lamellae and smooth muscle during arterial development. Humans are exquisitely sensitive to reduced ELN expression, developing profound arterial thickening and markedly increased risk of obstructive vascular disease.
D Y Li, G Faury, D G Taylor, E C Davis, W A Boyle, R P Mecham, P Stenzel, B Boak, M T Keating
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Annual Review of Physiology | 2011 |
The Adventitia: A Dynamic Interface Containing Resident Progenitor Cells
MW Majesky, XR Dong, V Hoglund, WM Mahoney, G Daum |
Arteriosclerosis, thrombosis, and vascular biology | 2011 |
Toward a multi-scale computational model of arterial adaptation in hypertension: verification of a multi-cell agent based model
BC Thorne, HN Hayenga, JD Humphrey, SM Peirce |
Frontiers in physiology | 2011 |
Mechanical property characterization of electrospun recombinant human tropoelastin for vascular graft biomaterials
KA McKenna, MT Hinds, RC Sarao, PC Wu, CL Maslen, RW Glanville, D Babcock, KW Gregory |
Acta Biomaterialia | 2011 |
Fibrillin-1 genetic deficiency leads to pathological aging of arteries in mice
B Mariko, M Pezet, B Escoubet, S Bouillot, JP Andrieu, B Starcher, D Quaglino, MP Jacob, P Huber, F Ramirez, G Faury |
The Journal of Pathology | 2011 |
Decreased aortic diameter and compliance precedes blood pressure increases in postnatal development of elastin-insufficient mice
VP Le, RH Knutsen, RP Mecham, JE Wagenseil |
American journal of physiology. Heart and circulatory physiology | 2011 |
Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation
BA Kozel, RH Knutsen, L Ye, CH Ciliberto, TJ Broekelmann, RP Mecham |
The Journal of biological chemistry | 2011 |
Altered bladder function in elastin-deficient mice at baseline and in response to partial bladder outlet obstruction
X Jiang, I Luttrell, DY Li, CC Yang, K Chitaley |
BJU International | 2011 |
Vascular Smooth Muscle Progenitor Cells: Building and Repairing Blood Vessels
MW Majesky, XR Dong, JN Regan, VJ Hoglund, M Schneider |
Circulation research | 2011 |
Coacervation of tropoelastin
GC Yeo, FW Keeley, AS Weiss |
Advances in Colloid and Interface Science | 2011 |
Genetic regulation of heart valve development: Clinical implications
MP Hitz, T Brand, G Andelfinger |
Aswan Heart Centre Science & Practice Series | 2011 |
Fetal and Neonatal Physiology
LH Johnson, VK Bhutani |
Fetal and Neonatal Physiology | 2011 |
Characterization of erectile function in elastin haploinsufficicent mice
J Hidalgo-Tamola, I Luttrell, X Jiang, D Li, RP Mecham, K Chitaley |
The Journal of Sexual Medicine | 2011 |
Qualitative Characterization of Elastic Fiber Distribution in the Mouse Vocal Fold: Further Development of an Animal Model
CR Watts, JA Marler, B Rousseau |
Journal of Voice | 2011 |
Decreased aortic diameter and compliance precedes blood pressure increases in postnatal development of elastin-insufficient mice
VP Le, RH Knutsen, RP Mecham, JE Wagenseil |
American journal of physiology. Heart and circulatory physiology | 2011 |
Extracellular Matrix Degradation
WC Parks, RP Mecham |
2011 | |
Multiple stenotic arteriopathy in a 72-year-old female with Williams syndrome: Figure 1
K Unuma, K Harada, M Furutani, Y Furutani, M Nakajima, T Nakanishi, R Matsuoka, K Yoshida |
Journal of clinical pathology | 2011 |
The importance of elastin to aortic development in mice
JE Wagenseil, CH Ciliberto, RH Knutsen, MA Levy, A Kovacs, RP Mecham |
American journal of physiology. Heart and circulatory physiology | 2010 |
Induced Chromosome Deletion in a Williams-Beuren Syndrome Mouse Model Causes Cardiovascular Abnormalities
CJ Goergen, HH Li, U Francke, CA Taylor |
Journal of Vascular Research | 2010 |
Neointima Formation: A Local Affair
VJ Hoglund, XR Dong, MW Majesky |
Arteriosclerosis, thrombosis, and vascular biology | 2010 |
Stenosis of the Thoracic Aorta in Williams Syndrome
RT Collins, P Kaplan, JJ Rome |
Pediatric Cardiology | 2010 |
Paediatric Cardiology
CC Mota, VD Aiello, RH Anderson |
Paediatric Cardiology | 2010 |
Animal models of Williams syndrome
LR Osborne |
American journal of medical genetics. Part C, Seminars in medical genetics | 2010 |
Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice
J Cao, L Gong, D Guo, U Mietzsch, SQ Kuang, CS Kwartler, H Safi, A Estrera, MJ Gambello, DM Milewicz |
Human Molecular Genetics | 2010 |
Copy number variants at Williams–Beuren syndrome 7q11.23 region
G Merla, N Brunetti-Pierri, L Micale, C Fusco |
Human Genetics | 2010 |
Genetic factors in non-syndromic congenital heart malformations
MW Wessels, PJ Willems |
Clinical Genetics | 2010 |
A constrained mixture model for developing mouse aorta
JE Wagenseil |
Biomechanics and Modeling in Mechanobiology | 2010 |
Increased arterial stiffness in children with Williams syndrome and normal blood pressure
PP Bassareo, G Mercuro |
Blood Pressure Monitoring | 2010 |
Management of Genetic Syndromes: Cassidy/Management
U Francke |
Management of Genetic Syndromes: Cassidy/Management | 2010 |
Evidence for heterozygous abnormalities of the elastin gene (ELN) affecting the quantity of vocal fold elastic fibers: a pilot study
CR Watts, RH Knutsen, C Ciliberto, RP Mecham |
Journal of voice : official journal of the Voice Foundation | 2010 |
Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease: Case report
AJ Reid, MB Bhattacharjee, ES Regalado, AL Milewicz, LM El-Hakam, RC Dauser, DM Milewicz |
Journal of Neurosurgery Pediatrics | 2010 |
Microfibrils and fibrillin-1 induce integrin-mediated signaling, proliferation and migration in human endothelial cells
B Mariko, Z Ghandour, S Raveaud, M Quentin, Y Usson, J Verdetti, P Huber, C Kielty, G Faury |
American journal of physiology. Cell physiology | 2010 |
Matrix modulation of compensatory lung regrowth and progenitor cell proliferation in mice
AM Hoffman, A Shifren, MR Mazan, AM Gruntman, KM Lascola, RD Nolen-Walston, CF Kim, L Tsai, RA Pierce, RP Mecham, EP Ingenito |
American journal of physiology. Lung cellular and molecular physiology | 2010 |
The importance of elastin to aortic development in mice
JE Wagenseil, CH Ciliberto, RH Knutsen, MA Levy, A Kovacs, RP Mecham |
American journal of physiology. Heart and circulatory physiology | 2010 |
The Extracellular Matrix: an Overview
RP Mecham |
2010 | |
Herzchirurgie
G Ziemer, A Haverich |
2010 | |
Self-Assembly of Elastin-Based Peptides into the ECM: the Importance of Integrins and the Elastin Binding Protein in Elastic Fiber Assembly
D Patel, R Menon, LJ Taite |
Biomacromolecules | 2010 |
Reduced vessel elasticity alters cardiovascular structure and function in newborn mice
JE Wagenseil, CH Ciliberto, RH Knutsen, MA Levy, A Kovacs, RP Mecham |
Circulation research | 2009 |
Vascular extracellular matrix and arterial mechanics
JE Wagenseil, RP Mecham |
Physiological reviews | 2009 |
Discrete Contributions of Elastic Fiber Components to Arterial Development and Mechanical Compliance
L Carta, JE Wagenseil, RH Knutsen, B Mariko, G Faury, EC Davis, B Starcher, RP Mecham, F Ramirez |
Arteriosclerosis, thrombosis, and vascular biology | 2009 |
Matrix modulation of compensatory lung regrowth and progenitor cell proliferation in mice
AM Hoffman, A Shifren, MR Mazan, AM Gruntman, KM Lascola, RD Nolen-Walston, CF Kim, L Tsai, RA Pierce, RP Mecham, EP Ingenito |
American journal of physiology. Lung cellular and molecular physiology | 2009 |
Differential Biomechanical Development of Elastic Tissues in the Bovine Fetus
EJ Walter, SM Wells |
Annals of Biomedical Engineering | 2009 |
Biomimetic control of vascular smooth muscle cell morphology and phenotype for functional tissue-engineered small-diameter blood vessels
MB Chan-Park, JY Shen, Y Cao, Y Xiong, Y Liu, S Rayatpisheh, GC Kang, HP Greisler |
Journal of Biomedical Materials Research Part A | 2009 |
In vivo vascular tissue engineering: influence of cytokine and implant location on tissue specific cellular recruitment
A Kurane, N Vyavahare |
Journal of Tissue Engineering and Regenerative Medicine | 2009 |
A Case Report of Rapid Progressive Coarctation and Severe Middle Aortic Syndrome in an Infant with Williams Syndrome
EK Hall, J Glatz, P Kaplan, BS Kaplan, J Hellinger, L Ernst, JW Gaynor |
Congenital Heart Disease | 2009 |
Molecular Pathology in Clinical Practice: Genetics
DG Leonard, KL Kaul, VM Deerlin, A Bagg, AM Caliendo |
2009 | |
Cell-Extracellular Matrix Interactions in Cancer
R Zent, A Pozzi |
2009 | |
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
Barbara R. Pober, Mark Johnson, and Zsolt Urban |
Journal of Clinical Investigation | 2008 |
Elastin insufficiency predisposes to elevated pulmonary circulatory pressures through changes in elastic artery structure
A Shifren, AG Durmowicz, RH Knutsen, G Faury, RP Mecham |
Journal of applied physiology | 2008 |
Elastin Haploinsufficiency Induces Alternative Aging Processes in the Aorta
M Pezet, MP Jacob, B Escoubet, D Gheduzzi, E Tillet, P Perret, P Huber, D Quaglino, R Vranckx, DY Li, B Starcher, WA Boyle, RP Mecham, G Faury |
Rejuvenation Research | 2008 |
Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2
A Hinek, TD Bodnaruk, S Bunda, Y Wang, K Liu |
The American Journal of Pathology | 2008 |
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
LM Graul-Neumann, I Hausser, M Essayie, A Rauch, C Kraus |
American Journal of Medical Genetics Part A | 2008 |
Disorders of Mineral Homeostasis in the Newborn, Infant, Child, and Adolescent
AW Root, FB Diamond |
Pediatric Endocrinology | 2008 |
Rigorous genotype–phenotype association research depends on scientific rigor at multiple scales of investigation*:
AH Morris |
Critical Care Medicine | 2008 |
Mutations in the SLC2A10 gene cause arterial abnormalities in mice
CH Cheng, T Kikuchi, YH Chen, NG Sabbagha, YC Lee, HJ Pan, C Chang, YT Chen |
Cardiovascular Research | 2008 |
Elastin insufficiency predisposes to elevated pulmonary circulatory pressures through changes in elastic artery structure
A Shifren, AG Durmowicz, RH Knutsen, G Faury, RP Mecham |
Journal of applied physiology | 2008 |
Erectile dysfunction in the type II diabetic db / db mouse: impaired venoocclusion with altered cavernosal vasoreactivity and matrix
IP Luttrell, M Swee, B Starcher, WC Parks, K Chitaley |
American journal of physiology. Heart and circulatory physiology | 2008 |
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes
M Ruggieri, I Pascual-Castroviejo, CD Rocco |
2008 | |
Diabetes and arterial extracellular matrix changes in a porcine model of atherosclerosis
TO McDonald, RG Gerrity, C Jen, HJ Chen, K Wark, TN Wight, A Chait, KD O'Brien |
Journal of Histochemistry & Cytochemistry | 2007 |
Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development
LR Osborne, CB Mervis |
Expert Reviews in Molecular Medicine | 2007 |
Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice
EJ Young, T Lipina, E Tam, A Mandel, SJ Clapcote, AR Bechard, J Chambers, HT Mount, PJ Fletcher, JC Roder, LR Osborne |
Genes, brain, and behavior | 2007 |
In vivo cellular repopulation of tubular elastin scaffolds mediated by basic fibroblast growth factor
A Kurane, DT Simionescu, NR Vyavahare |
Biomaterials | 2007 |
Domains 16 and 17 of tropoelastin in elastic fibre formation
H Wachi, F Sato, J Nakazawa, R Nonaka, Z Szabo, Z Urban, T Yasunaga, I Maeda, K Okamoto, BC Starcher, DY Li, RP Mecham, Y Seyama |
Biochemical Journal | 2007 |
Cardiovascular Development and Congenital Malformations: Cardiovascular Development and Congenital Malformations
DW Benson |
Cardiovascular Development and Congenital Malformations: Cardiovascular Development and Congenital Malformations | 2007 |
LIM kinases: function, regulation and association with human disease
RW Scott, MF Olson |
Journal of Molecular Medicine | 2007 |
New insights into elastic fiber assembly
JE Wagenseil, RP Mecham |
Birth Defects Research Part C Embryo Today Reviews | 2007 |
Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients
GB Ferrero, E Biamino, L Sorasio, E Banaudi, L Peruzzi, S Forzano, LV di Cantogno, MC Silengo |
European Journal of Medical Genetics | 2007 |
Diabetes and Arterial Extracellular Matrix Changes in a Porcine Model of Atherosclerosis
TO McDonald, RG Gerrity, C Jen, HJ Chen, K Wark, TN Wight, A Chait, KD O'Brien |
Journal of Histochemistry & Cytochemistry | 2007 |
Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema
A Shifren, AG Durmowicz, RH Knutsen, E Hirano, RP Mecham |
American journal of physiology. Lung cellular and molecular physiology | 2007 |
Elastin-insufficient mice show normal cardiovascular remodeling in 2K1C hypertension despite higher baseline pressure and unique cardiovascular architecture
JE Wagenseil, RH Knutsen, DY Li, RP Mecham |
American journal of physiology. Heart and circulatory physiology | 2007 |
Molecular Pathology in Clinical Practice
DG Leonard, A Bagg, AM Caliendo, KL Kaul, VM Deerlin |
2007 | |
Granulocyte Macrophage Colony-Stimulating Factor Deficiency Affects Vascular Elastin Production and Integrity of Elastic Lamellae
G Weissen-Plenz, H Eschert, W Völker, JR Sindermann, S Beissert, H Robenek, HH Scheld, G Breithardt |
Journal of Vascular Research | 2007 |
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension
MD Campo, A Antonell, LF Magano, FJ Muñoz, R Flores, M Bayés, LA Jurado |
The American Journal of Human Genetics | 2006 |
A haplotype spanning two genes, ELN and LIMK1 , decreases their transcripts and confers susceptibility to intracranial aneurysms
H Akagawa, A Tajima, Y Sakamoto, B Krischek, T Yoneyama, H Kasuya, H Onda, T Hori, M Kubota, T Machida, N Saeki, A Hata, K Hashiguchi, E Kimura, CJ Kim, TK Yang, JY Lee, K Kimm, I Inoue |
Human Molecular Genetics | 2006 |
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
G Merla, C Howald, CN Henrichsen, R Lyle, C Wyss, MT Zabot, SE Antonarakis, A Reymond |
The American Journal of Human Genetics | 2006 |
Pathologic and Molecular Analysis in a Family with Rare Mixed Supravalvar Aortic and Pulmonic Stenosis
CB Arrington, D Nightengale, A Lowichik, ET Rosenthal, K Christian-Ritter, DH Viskochil |
Pediatric and Developmental Pathology | 2006 |
Development of a reinforced porcine elastin composite vascular scaffold
MT Hinds, RC Rowe, Z Ren, J Teach, PC Wu, SJ Kirkpatrick, KD Breneman, KW Gregory, DW Courtman |
Journal of Biomedical Materials Research Part A | 2006 |
What Mouse Mutants Teach Us About Extracellular Matrix Function
A Aszódi, KR Legate, I Nakchbandi, R Fässler |
Annual Review of Cell and Developmental Biology | 2006 |
Vascular Medicine
ES Klings, J Loscalzo |
Vascular Medicine | 2006 |
Hearts and bones: Shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development
J Lincoln, AW Lange, KE Yutzey |
Developmental Biology | 2006 |
Advances in Developmental Biology
JK Reddy, D Guo, Y Jia, S Yu, MS Rao |
Advances in Developmental Biology | 2006 |
Pharmacogenetics: The Role of Genetic Variants in Disease Diagnosis and Drug Response
D Cooper, J Cockcroft |
Pharmacogenetics | 2006 |
Abnormalities of the Bronchial Arteries in Asthma
FH Green, JC Butt, AL James, NG Carroll |
Chest | 2006 |
Altered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration
JA Spencer, SL Hacker, EC Davis, RP Mecham, RH Knutsen, DY Li, RD Gerard, JA Richardson, EN Olson, H Yanagisawa |
Proceedings of the National Academy of Sciences | 2005 |
Fibrillins 1 and 2 perform partially overlapping functions during aortic development
L Carta, L Pereira, E Arteaga-Solis, SY Lee-Arteaga, B Lenart, B Starcher, CA Merkel, M Sukoyan, A Kerkis, N Hazeki, DR Keene, LY Sakai, F Ramirez |
The Journal of biological chemistry | 2005 |
Management of Genetic Syndromes
R Weksberg, C Shuman |
Management of Genetic Syndromes | 2005 |
Vascular Wall Remodeling in Patients with Supravalvular Aortic Stenosis and Williams Beuren Syndrome
SM Dridi, AF Bertaud, SI Tchen, K Senni, AL Ejeil, B Pellat, S Lyonnet, D Bonnet, P Charpiot, G Godeau |
Journal of Vascular Research | 2005 |
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program
BR Pober, A Lin, M Russell, KG Ackerman, S Chakravorty, B Strauss, MN Westgate, J Wilson, PK Donahoe, LB Holmes |
American journal of medical genetics. Part A | 2005 |
Autosomal dominant inheritance of left ventricular outflow tract obstruction
MW Wessels, RM Berger, IM Frohn-Mulder, JW Roos-Hesselink, JJ Hoogeboom, GS Mancini, MM Bartelings, R Krijger, JW Wladimiroff, MF Niermeijer, P Grossfeld, PJ Willems |
American Journal of Medical Genetics Part A | 2005 |
Cell–elastin interaction and signaling
L Robert |
Pathologie Biologie | 2005 |
Medical overview and genetics of Williams-Beuren syndrome
L Smoot, H Zhang, C Klaiman, R Schultz, B Pober |
Progress in Pediatric Cardiology | 2005 |
Effects of elastin haploinsufficiency on the mechanical behavior of mouse arteries
JE Wagenseil, NL Nerurkar, RH Knutsen, RJ Okamoto, DY Li, RP Mecham |
American journal of physiology. Heart and circulatory physiology | 2005 |
Characteristics of the aortic elastic network and related phenotypes in seven inbred rat strains
J Behmoaras, M Osborne-Pellegrin, D Gauguier, MP Jacob |
American journal of physiology. Heart and circulatory physiology | 2005 |
Molekularmedizinische Grundlagen von fetalen und neonatalen Erkrankungen
D Ganten, K Ruckpaul |
2005 | |
Mechanisms of Angiogenesis
M Clauss, G Breier |
2005 | |
Developmental Biology of Neoplastic Growth
A Macieira-Coelho |
2005 | |
Signals regulating tendon formation during chick embryonic development
F Edom-Vovard, D Duprez |
Developmental Dynamics | 2004 |
Síndrome de Williams-Beuren: presentación de 82 casos
I Pascual-Castroviejo, SI Pascual-Pascual, FM Granado, L García-Guereta, R Gracia-Bouthelier, MN Torres, AD Navarro, D López-Pajares, RP Luaces |
Anales de Pediatría | 2004 |
LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome
CC Hoogenraad, A Akhmanova, N Galjart, CI de Zeeuw |
BioEssays : news and reviews in molecular, cellular and developmental biology | 2004 |
Animal models for human contiguous gene syndromes and other genomic disorders
K Walz, P Fonseca, JR Lupski |
Genetics and molecular biology | 2004 |
B-Myb Represses Elastin Gene Expression in Aortic Smooth Muscle Cells
CS Hofmann, X Wang, CP Sullivan, P Toselli, PJ Stone, SE McLean, RP Mecham, BM Schreiber, GE Sonenshein |
The Journal of biological chemistry | 2004 |
Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology
F Ramirez, LY Sakai, HC Dietz, DB Rifkin |
Physiological genomics | 2004 |
Genetic approaches to disease and regeneration
JP Brockes, P Martin, MT Keating |
Philosophical Transactions of The Royal Society B Biological Sciences | 2004 |
Marfan Syndrome: A Primer for Clinicians and Scientists
PN Robinson, M Godfrey |
2004 | |
Developmental Adaptation of the Mouse Cardiovascular System to Elastin Haploinsufficiency
Gilles Faury Mylène Pezet Russell H. Knutsen Walter A. Boyle Scott P. Hexamer Sean E. McLean Robert K. Minkes Kendall J. Blumer Attila Kovacs Daniel P. Kelly Dean Y. Li Barry Starcher Robert P. Mecham |
Journal of Clinical Investigation | 2003 |
Decreased elastin in vessel walls puts the pressure on
J DArmiento |
Journal of Clinical Investigation | 2003 |
Elastin induces myofibrillogenesis via a specific domain, VGVAPG
SK Karnik, JD Wythe, L Sorensen, BS Brooke, LD Urness, DY Li |
Matrix Biology | 2003 |
Inhibition of Matrix Metalloproteinases by Lung TIMP-1 Gene Transfer Limits Monocrotaline-Induced Pulmonary Vascular Remodeling in Rats
A Vieillard-Baron, E Frisdal, B Raffestin, AH Baker, S Eddahibi, S Adnot, MP d'Ortho |
Human Gene Therapy | 2003 |
Extracellular matrix remodeling and matrix metalloproteinases in the vascular wall during aging and in pathological conditions
MP Jacob |
Biomedicine & Pharmacotherapy | 2003 |
Williams-Beuren syndrome: a challenge for genotype-phenotype correlations
M Tassabehji |
Human Molecular Genetics | 2003 |
Nuclear Receptors
B Belandia, MG Parker |
Cell | 2003 |
Mechanotransduction via the elastin–laminin receptor (ELR) in resistance arteries
CM Spofford, WM Chilian |
Journal of Biomechanics | 2003 |
Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome
Z Urbán, S Riazi, TL Seidl, J Katahira, LB Smoot, D Chitayat, CD Boyd, A Hinek |
The American Journal of Human Genetics | 2002 |
Increased expression of urokinase during atherosclerotic lesion development causes arterial constriction and lumen loss, and accelerates lesion growth
M Falkenberg, C Tom, MB DeYoung, S Wen, R Linnemann, DA Dichek |
Proceedings of the National Academy of Sciences | 2002 |
Cardiovascular manifestations in 75 patients with Williams syndrome
M Eronen, M Peippo, A Hiippala, M Raatikka, M Arvio, R Johansson, M Kähkönen |
Journal of medical genetics | 2002 |
Abdominal Aortic Aneurysms: Basic Mechanisms and Clinical Implications
RW Thompson, PJ Geraghty, JK Lee |
Current Problems in Surgery | 2002 |
Noninvasive assessment of arterial function in children: clinical applications
Y Aggoun, M Beghetti |
Images in Paediatric Cardiology | 2002 |
Elastin, past, present and future
L Robert |
Pathologie Biologie | 2002 |
Smad about Elastin Regulation
JM Davidson |
American journal of respiratory cell and molecular biology | 2002 |
Exploring the etiology of haploinsufficiency
RA Veitia |
BioEssays : news and reviews in molecular, cellular and developmental biology | 2002 |
Smooth muscle-specific expression of SV40 large TAg induces SMC proliferation causing adaptive arterial remodeling
JR Sindermann, P Babij, JC Klink, C Köbbert, G Plenz, J Ebbing, L Fan, KL March |
American journal of physiology. Heart and circulatory physiology | 2002 |
Assembly of the Vasculature and Its Regulation
RJ Tomanek |
2002 | |
Elastic fibres
CM Kielty, MJ Sherratt, CA Shuttleworth |
Journal of cell science | 2002 |
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome
TE Bunton, NJ Biery, L Myers, B Gayraud, F Ramirez, HC Dietz |
Circulation research | 2001 |
Aortic wall mechanics and composition in a transgenic mouse model of Marfan syndrome
V Marque, P Kieffer, B Gayraud, I Lartaud-Idjouadiene, F Ramirez, J Atkinson |
Arteriosclerosis, thrombosis, and vascular biology | 2001 |
Function–structure relationship of elastic arteries in evolution: from microfibrils to elastin and elastic fibres
G Faury |
Pathologie Biologie | 2001 |
Arterial calcification: A review of mechanisms, animal models, and the prospects for therapy
R Wallin, N Wajih, GT Greenwood, DC Sane |
Medicinal Research Reviews | 2001 |
Extracellular matrix remodeling in the vascular wall
MP Jacob, C Badier-Commander, V Fontaine, Y Benazzoug, L Feldman, JB Michel |
Pathologie Biologie | 2001 |
Williams syndrome: recent developments:
JE Schmitt |
Current Opinion in Psychiatry | 2001 |
Physiopathologie de l'artériopathie du syndrome de Williams
D Bonnet, Y Aggoun, M Dridi, D Sidi, J Kachaner, G Godeau |
Archives de Pédiatrie | 2001 |
Genetic basis of syndromes associated with congenital heart disease:
BD Gelb |
Current Opinion in Cardiology | 2001 |
Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder
P Kaplan, PP Wang, U Francke |
Journal of child neurology | 2001 |
Congenital supravalvar aortic stenosis: a simple lesion?
C Stamm, I Friehs, SY Ho, AM Moran, RA Jonas, PJ Nido |
European Journal of Cardio-Thoracic Surgery | 2001 |
Cardiovascular Genetics for Clinicians
PA Doevendans, AA Wilde |
2001 | |
Pathophysiology of the microfibril/elastic fiber system: introduction
F Ramirez |
Matrix Biology | 2000 |
Mechanical properties of the common carotid artery in Williams syndrome
Y Aggoun, D Sidi, BI Levy, S Lyonnet, J Kachaner, D Bonnet |
Heart (British Cardiac Society) | 2000 |
Elastic and collagenous networks in vascular diseases
E Arteaga-Solis, B Gayraud, F Ramirez |
Cell Structure and Function | 2000 |
WILLIAMSSYNDROME ANDRELATEDDISORDERS
CA M.D, CB Ph.D |
Annual Review of Genomics and Human Genetics | 2000 |
The extracellular matrix can regulate vascular cell migration, proliferation, and survival: relationships to vascular disease
EW Raines |
International Journal of Experimental Pathology | 2000 |
Surgery for bilateral outflow tract obstruction in elastin arteriopathy
C Stamm, I Friehs, AM Moran, D Zurakowski, E Bacha, JE Mayer, RA Jonas, PJ Nido |
The Journal of Thoracic and Cardiovascular Surgery | 2000 |
Retinoid-Enhanced Alveolization: Identifying Relevant Downstream Targets
RA Pierce, JM Shipley |
American journal of respiratory cell and molecular biology | 2000 |
Elastic and Collagenous Networks in Vascular Diseases
E Arteaga-Solis, B Gayraud, F Ramirez |
Cell Structure and Function | 2000 |
Mouse models of genetic diseases resulting from mutations in elastic fiber proteins
HC Dietz, RP Mecham |
Matrix Biology | 2000 |
Molecular determinants of left and right outflow tract obstruction
JA Towbin, J Belmont |
American Journal of Medical Genetics | 2000 |
Mutations in the Tropoelastin Gene (ELN) Were Not Found in Patients With Spontaneous Cervical Artery Dissections
C Grond-Ginsbach, C Thomas-Feles, I Werner, R Weber, F Wigger, I Hausser, T Brandt |
Stroke; a journal of cerebral circulation | 2000 |
Relation between outer and luminal diameter in cannulated arteries
G Faury, GM Maher, DY Li, MT Keating, RP Mecham, WA Boyle |
American journal of physiology. Heart and circulatory physiology | 1999 |
Vascular Biology in Genetically Altered Mice: Smaller Vessels, Bigger Insight
FM Faraci, CD Sigmund |
Circulation research | 1999 |
Advances in Pharmacology
B Drenger, Y Ginosar, Y Gozal |
Advances in Pharmacology | 1994 |
Williams syndrome: From genotype through to the cognitive phenotype
D Donnai, A Karmiloff-Smith |
American Journal of Medical Genetics | |
Recent Advances in the Understanding of Genetic Causes of Congenital Heart Defects
BD Gelb |
Pediatric Pathology & Molecular Medicine | 1998 |