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Citations to this article

Novel arterial pathology in mice and humans hemizygous for elastin.
D Y Li, … , B Boak, M T Keating
D Y Li, … , B Boak, M T Keating
Published November 15, 1998
Citation Information: J Clin Invest. 1998;102(10):1783-1787. https://doi.org/10.1172/JCI4487.
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Novel arterial pathology in mice and humans hemizygous for elastin.

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Abstract

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.

Authors

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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Maladaptive matrix remodeling and regional biomechanical dysfunction in a mouse model of aortic valve disease
VK Krishnamurthy, AM Opoka, CB Kern, F Guilak, DA Narmoneva, RB Hinton
Matrix Biology 2012
The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome
G Vandeweyer, N Van der Aa, E Reyniers, RF Kooy
The American Journal of Human Genetics 2012
Modeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells
C Kinnear, WY Chang, S Khattak, A Hinek, T Thompson, DC Rodrigues, K Kennedy, N Mahmut, P Pasceri, WL Stanford, J Ellis, S Mital
Stem Cells Translational Medicine 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
M Morimoto, Z Yu, P Stenzel, JM Clewing, B Najafian, C Mayfield, G Hendson, JG Weinkauf, AK Gormley, DM Parham, U Ponniah, JL André, Y Asakura, M Basiratnia, R Bogdanović, A Bokenkamp, D Bonneau, A Buck, J Charrow, P Cochat, I Cordeiro, G Deschenes, MS Fenkçi, P Frange, S Fründ, H Fryssira, E Guillen-Navarro, K Keller, S Kirmani, C Kobelka, P Lamfers, E Levtchenko, DB Lewis, L Massella, DR McLeod, DV Milford, F Nobili, JM Saraiva, CN Semerci, L Shoemaker, N Stajić, A Stein, D Taha, D Wand, J Zonana, T Lücke, CF Boerkoel
Orphanet Journal of Rare Diseases 2012
Surgical Management of Congenital Heart Disease I
V Hraška, P Murín
2012
Heart Valve Structure and Function in Development and Disease
RB Hinton, KE Yutzey
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

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