Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1). A dominant-negative mechanism has been inferred based upon dominant inheritance, mulitimerization of monomers to form microfibrils, and the dramatic paucity of matrix-incorporated fibrillin-1 seen in heterozygous patient samples. Yeast artificial chromosome–based transgenesis was used to overexpress a disease-associated mutant form of human fibrillin-1 (C1663R) on a normal mouse background. Remarkably, these mice failed to show any abnormalities of cellular or clinical phenotype despite regulated overexpression of mutant protein in relevant tissues and developmental stages and direct evidence that mouse and human fibrillin-1 interact with high efficiency. Immunostaining with a human-specific mAb provides what we believe to be the first demonstration that mutant fibrillin-1 can participate in productive microfibrillar assembly. Informatively, use of homologous recombination to generate mice heterozygous for a comparable missense mutation (C1039G) revealed impaired microfibrillar deposition, skeletal deformity, and progressive deterioration of aortic wall architecture, comparable to characteristics of the human condition. These data are consistent with a model that invokes haploinsufficiency for WT fibrillin-1, rather than production of mutant protein, as the primary determinant of failed microfibrillar assembly. In keeping with this model, introduction of a WT FBN1 transgene on a heterozygous C1039G background rescues aortic phenotype.
Daniel P. Judge, Nancy J. Biery, Douglas R. Keene, Jessica Geubtner, Loretha Myers, David L. Huso, Lynn Y. Sakai, Harry C. Dietz
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2019 | |
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Journal of Cardiovascular Pharmacology | 2018 |
Proteomics Reveals Rictor as a Non-Canonical TGFB Signaling Target During Aneurysm Progression in Marfan Mice
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PeerJ | 2018 |
Nonmyocyte ERK1/2 Signaling Contributes to Load-Induced Cardiomyopathy in Marfan Mice
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter Rainer, Julia G. Bindman, Elizabeth E. Gerber, Djahida Bedja, Christopher Schiefer, Karen Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I. Lee, Norimichi Koitabashi, Daniel P. Judge, David A. Kass, Harry C. Dietz, III |
JCI Insight | 2017 |
Notch1 haploinsufficiency causes ascending aortic aneurysms in mice
Sara Koenig, Stephanie LaHaye, James Feller, Patrick Rowland, Kan Hor, Aaron Trask, Paul Janssen, Frederick Radtke, brenda lilly, Vidu Garg |
JCI Insight | 2017 |
Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome
J Oller, N Méndez-Barbero, EJ Ruiz, S Villahoz, M Renard, LI Canelas, AM Briones, R Alberca, N Lozano-Vidal, MA Hurlé, D Milewicz, A Evangelista, M Salaices, JF Nistal, LJ Jiménez-Borreguero, JD Backer, MR Campanero, JM Redondo |
Nature Medicine | 2017 |
Aortic Aneurysms
H Lu, A Daugherty |
Arteriosclerosis, thrombosis, and vascular biology | 2017 |
Premature aortic smooth muscle cell differentiation contributes to matrix dysregulation in Marfan Syndrome
M Dale, MP Fitzgerald, Z Liu, T Meisinger, A Karpisek, LN Purcell, JS Carson, P Harding, H Lang, P Koutakis, R Batra, CJ Mietus, G Casale, I Pipinos, BT Baxter, W Xiong, LV Pereira |
PloS one | 2017 |
A Novel Murine Model of Marfan Syndrome Accelerates Aortopathy and Cardiomyopathy
NB Cavanaugh, L Qian, NM Westergaard, WJ Kutschke, EJ Born, JW Turek |
The Annals of Thoracic Surgery | 2017 |
Establishment of DNA methylation patterns of the Fibrillin1 (FBN1) gene in porcine embryos and tissues
Y ARAI, K UMEYAMA, K TAKEUCHI, N OKAZAKI, N HICHIWA, S YASHIMA, K NAKANO, H NAGASHIMA, J OHGANE |
Journal of Reproduction and Development | 2017 |
High-Resolution Morphological Approach to Analyse Elastic Laminae Injuries of the Ascending Aorta in a Murine Model of Marfan Syndrome
J López-Guimet, J Andilla, P Loza-Alvarez, G Egea |
Scientific Reports | 2017 |
Sex, pregnancy and aortic disease in Marfan syndrome
M Renard, L Muiño-Mosquera, EC Manalo, S Tufa, EJ Carlson, DR Keene, JD Backer, LY Sakai, M Bader |
PloS one | 2017 |
Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling
H Wei, JH Hu, SN Angelov, K Fox, J Yan, R Enstrom, A Smith, DA Dichek |
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease | 2017 |
Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model
A MasStachurska, AM Siegert, M Batlle, DG Blanco, T Meirelles, C Rubies, F Bonorino, C SerraPeinado, B Bijnens, J Baudin, M Sitges, L Mont, E Guasch, G Egea |
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease | 2017 |
Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice
J Roohi, B Kang, D Bernard, D Bedja, HC Dietz, LC Brody |
The Journal of nutrition | 2017 |
Differences in the Thoracic Aorta by Region and Sex in a Murine Model of Marfan Syndrome
F Jiménez-Altayó, AM Siegert, F Bonorino, T Meirelles, L Barberà, AP Dantas, E Vila, G Egea |
Frontiers in physiology | 2017 |
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans
VS Lee, CM Halabi, EP Hoffman, N Carmichael, I Leshchiner, CG Lian, AJ Bierhals, D Vuzman, RP Mecham, NY Frank, NO Stitziel |
Proceedings of the National Academy of Sciences | 2016 |
Hereditary Influence in Thoracic Aortic Aneurysm and Dissection
EM Isselbacher, CL Cardenas, ME Lindsay |
Circulation | 2016 |
TGF-β and the TGF-β Family: Context-Dependent Roles in Cell and Tissue Physiology
M Morikawa, R Derynck, K Miyazono |
Cold Spring Harbor perspectives in biology | 2016 |
Hypertension and decreased aortic compliance due to reduced elastin amounts do not increase atherosclerotic plaque accumulation in Ldlr−/− mice
JA Maedeker, KV Stoka, SA Bhayani, WS Gardner, L Bennett, JD Procknow, MC Staiculescu, TA Walji, CS Craft, JE Wagenseil |
Atherosclerosis | 2016 |
Characterization of metabolic health in mouse models of fibrillin-1 perturbation
TA Walji, SE Turecamo, AJ DeMarsilis, LY Sakai, RP Mecham, CS Craft |
Matrix Biology | 2016 |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
LY Sakai, DR Keene, M Renard, JD Backer |
Gene | 2016 |
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts
K Umeyama, K Watanabe, M Watanabe, K Horiuchi, K Nakano, M Kitashiro, H Matsunari, T Kimura, Y Arima, O Sampetrean, M Nagaya, M Saito, H Saya, K Kosaki, H Nagashima, M Matsumoto |
Scientific Reports | 2016 |
Losartan Attenuates Degradation of Aorta and Lung Tissue Micromechanics in a Mouse Model of Severe Marfan Syndrome
JJ Lee, J Galatioto, S Rao, F Ramirez, KD Costa |
Annals of Biomedical Engineering | 2016 |
Early Impairment of Lung Mechanics in a Murine Model of Marfan Syndrome
JJ Uriarte, T Meirelles, DG Blanco, PN Nonaka, N Campillo, E Sarri, D Navajas, G Egea, R Farré, LV Pereira |
PloS one | 2016 |
Aortic and Cardiac Structure and Function Using High-Resolution Echocardiography and Optical Coherence Tomography in a Mouse Model of Marfan Syndrome
L Lee, JZ Cui, M Cua, M Esfandiarei, X Sheng, WA Chui, MH Xu, MV Sarunic, MF Beg, C Breemen, GG Sandor, GF Tibbits, V Lionetti |
PloS one | 2016 |
Loss of Axin2 results in impaired heart valve maturation and subsequent myxomatous valve disease
A Hulin, V Moore, JM James, KE Yutzey |
Cardiovascular Research | 2016 |
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications
AJ Brownstein, BA Ziganshin, H Kuivaniemi, SC Body, AE Bale, JA Elefteriades |
AORTA | 2016 |
Regulation of the Bioavailability of TGF-β and TGF-β-Related Proteins
IB Robertson, DB Rifkin |
Cold Spring Harbor perspectives in biology | 2016 |
Dimorphic Effects of Transforming Growth Factor- Signaling During Aortic Aneurysm Progression in Mice Suggest a Combinatorial Therapy for Marfan Syndrome
JR Cook, NP Clayton, L Carta, J Galatioto, E Chiu, S Smaldone, CA Nelson, SH Cheng, BM Wentworth, F Ramirez |
Arteriosclerosis, thrombosis, and vascular biology | 2015 |
Differences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout mice
J Kim, JD Procknow, H Yanagisawa, JE Wagenseil |
American journal of physiology. Heart and circulatory physiology | 2015 |
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias
SA Jensen, S Iqbal, A Bulsiewicz, PA Handford |
Human Molecular Genetics | 2015 |
Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans
L Campens, M Renard, B Trachet, P Segers, LM Mosquera, JD Sutter, L Sakai, AD Paepe, JD Backer |
Pediatric Research | 2015 |
Fibrillin-1 Regulates Skeletal Stem Cell Differentiation by Modulating TGFβ Activity Within the Marrow Niche: FIBRILLIN-1 REGULATION OF MARROW STEM CELLS
S Smaldone, NP Clayton, M Solar, G Pascual-Gonzales, SH Cheng, BM Wentworth, MB Schaffler, F Ramirez |
Journal of Bone and Mineral Research | 2015 |
Fibrillin-containing microfibrils are key signal relay stations for cell function
KA Zeyer, DP Reinhardt |
Journal of Cell Communication and Signaling | 2015 |
Genetics of hereditary large vessel diseases
T Morisaki, H Morisaki |
Journal of Human Genetics | 2015 |
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
L Tjeldhorn, SS Amundsen, T Barøy, S Rand-Hendriksen, O Geiran, E Frengen, B Paus |
BMC Medical Genetics | 2015 |
Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities
D Judge, H Neamatalla, R Norris, R Levine, J Butcher, N Vignier, K Kang, Q Nguyen, P Bruneval, MC Perier, E Messas, X Jeunemaitre, A Vlaming, R Markwald, L Carrier, A Hagège |
Journal of Cardiovascular Development and Disease | 2015 |
Cardiac remodeling in the mouse model of Marfan syndrome develops into two distinctive phenotypes
HJ Tae, N Petrashevskaya, S Marshall, M Krawczyk, M Talan |
American journal of physiology. Heart and circulatory physiology | 2015 |
Abnormal muscle mechanosignaling causes cardiomyopathy in mice with Marfan syndrome
Jason Cook, Luca Carta, Ludovic Benard, Elie Chemaly, Emily Chiu, Satish Rao, Thomas Hampton, Peter D. Yurchenco, GenTac Registry Consortium, Kevin Costa, Roger Hajjar, Francesco Ramirez |
Journal of Clinical Investigation | 2014 |
Elastin fragmentation in atherosclerotic mice leads to intraplaque neovascularization, plaque rupture, myocardial infarction, stroke, and sudden death
CV der Donckt, JL van Herck, DM Schrijvers, G Vanhoutte, M Verhoye, I Blockx, AV der Linden, D Bauters, HR Lijnen, JC Sluimer, L Roth, CE van Hove, P Fransen, MW Knaapen, AS Hervent, GW de Keulenaer, H Bult, W Martinet, AG Herman, GR de Meyer |
European Heart Journal | 2014 |
The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment
S Stagi, L Cavalli, S Seminara, M Martino, ML Brandi |
Italian Journal of Pediatrics | 2014 |
The Microfibril Hypothesis of Glaucoma: Implications for Treatment of Elevated Intraocular Pressure
J Kuchtey, RW Kuchtey |
Journal of Ocular Pharmacology and Therapeutics | 2014 |
Early Fibrillin-1 Assembly Monitored through a Modifiable Recombinant Cell Approach
D Hubmacher, E Bergeron, C Fagotto-Kaufmann, LY Sakai, DP Reinhardt |
Biomacromolecules | 2014 |
Marfan syndrome: An eyesight of syndrome
A Kumar, S Agarwal |
Meta Gene | 2014 |
Molecular mechanisms of inherited thoracic aortic disease – from gene variant to surgical aneurysm
E Robertson, C Dilworth, Y Lu, B Hambly, R Jeremy |
Biophysical Reviews | 2014 |
Prestress in the extracellular matrix sensitizes latent TGF- 1 for activation
F Klingberg, ML Chow, A Koehler, S Boo, L Buscemi, TM Quinn, M Costell, BA Alman, E Genot, B Hinz |
The Journal of Cell Biology | 2014 |
mTOR inhibition rescues osteopenia in mice with systemic sclerosis
C Chen, K Akiyama, D Wang, X Xu, B Li, A Moshaverinia, F Brombacher, L Sun, S Shi |
Journal of Experimental Medicine | 2014 |
Review of Molecular and Mechanical Interactions in the Aortic Valve and Aorta: Implications for the Shared Pathogenesis of Aortic Valve Disease and Aortopathy
VK Krishnamurthy, RC Godby, GR Liu, JM Smith, LF Hiratzka, DA Narmoneva, RB Hinton |
Journal of Cardiovascular Translational Research | 2014 |
The Genetic Basis of Aortic Aneurysm
ME Lindsay, HC Dietz |
Cold Spring Harbor Perspectives in Medicine | 2014 |
Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome
LC Beene, LW Wang, D Hubmacher, DR Keene, DP Reinhardt, DS Annis, DF Mosher, RP Mecham, EI Traboulsi, SS Apte |
Investigative ophthalmology & visual science | 2013 |
A Pkd1-Fbn1 Genetic Interaction Implicates TGF- Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease
D Liu, CJ Wang, DP Judge, MK Halushka, J Ni, JP Habashi, J Moslehi, D Bedja, KL Gabrielson, H Xu, F Qian, D Huso, HC Dietz, GG Germino, T Watnick |
Journal of the American Society of Nephrology : JASN | 2013 |
MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndrome
W Xiong, T Meisinger, R Knispel, JM Worth, BT Baxter |
Circulation research | 2012 |
Extracellular matrix and the mechanics of large artery development
JK Cheng, JE Wagenseil |
Biomechanics and Modeling in Mechanobiology | 2012 |
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
ME Lindsay, D Schepers, NA Bolar, JJ Doyle, E Gallo, J Fert-Bober, MJ Kempers, EK Fishman, Y Chen, L Myers, D Bjeda, G Oswald, AF Elias, HP Levy, BM Anderlid, MH Yang, EM Bongers, J Timmermans, AC Braverman, N Canham, GR Mortier, HG Brunner, PH Byers, JV Eyk, LV Laer, HC Dietz, BL Loeys |
Nature Genetics | 2012 |
Microenvironmental Regulation by Fibrillin-1
G Sengle, K Tsutsui, DR Keene, SF Tufa, EJ Carlson, NL Charbonneau, RN Ono, T Sasaki, MK Wirtz, JR Samples, LI Fessler, JH Fessler, K Sekiguchi, SJ Hayflick, LY Sakai |
PLoS genetics | 2012 |
Targeting collagen strands by photo-triggered triple-helix hybridization
Y Li, CA Foss, DD Summerfield, JJ Doyle, CM Torok, HC Dietz, MG Pomper, SM Yu |
Proceedings of the National Academy of Sciences | 2012 |
Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome
RA Gould, R Sinha, H Aziz, R Rouf, HC 3rd, DP Judge, J Butcher |
PloS one | 2012 |
Genetic architecture of body size in mammals
KE Kemper, PM Visscher, ME Goddard |
Genome biology | 2012 |
Assessment of bone mineral status in children with Marfan syndrome
M Grover, N Brunetti-Pierri, J Belmont, K Phan, A Tran, RJ Shypailo, KJ Ellis, BH Lee |
American Journal of Medical Genetics Part A | 2012 |
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: Role of fibrillins and fibronectin
L Zilberberg, V Todorovic, B Dabovic, M Horiguchi, T Couroussé, LY Sakai, DB Rifkin |
Journal of Cellular Physiology | 2012 |
Uncovering genes required for neuronal morphology by morphology-based gene trap screening with a revertible retrovirus vector
Y Hashimoto, K Muramatsu, M Kunii, S Yoshimura, M Yamada, T Sato, Y Ishida, R Harada, A Harada |
The FASEB Journal | 2012 |
Genetic architecture of body size in mammals
Kemper KE, Visscher PM, Goddard ME |
Genome biology | 2012 |
Impaired Vascular Contractility and Aortic Wall Degeneration in Fibulin-4 Deficient Mice: Effect of Angiotensin II Type 1 (AT(1)) Receptor Blockade
E Moltzer, L Riet, SM Swagemakers, PM van Heijningen, M Vermeij, R Veghel, AM Bouhuizen, JH van Esch, S Lankhorst, NW Ramnath, MC de Waard, DJ Duncker, PJ van der Spek, EV Rouwet, AH Danser, J Essers |
PloS one | 2011 |
ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly
M Saito, M Kurokawa, M Oda, M Oshima, K Tsutsui, K Kosaka, K Nakao, M Ogawa, R Manabe, N Suda, G Ganjargal, Y Hada, T Noguchi, T Teranaka, K Sekiguchi, T Yoneda, T Tsuji |
The Journal of biological chemistry | 2011 |
Extracellular Matrix and Heart Development
M Lockhart, E Wirrig, A Phelps, A Wessels |
Birth defects research. Part A, Clinical and molecular teratology | 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 |
Noncanonical TGF Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice
TM Holm, JP Habashi, JJ Doyle, D Bedja, YC Chen, C Erp, ME Lindsay, D Kim, F Schoenhoff, RD Cohn, BL Loeys, CJ Thomas, S Patnaik, JJ Marugan, DP Judge, HC Dietz |
Science | 2011 |
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein
G Guo, P Gehle, S Doelken, JL Martin-Ventura, Y Kodolitsch, R Hetzer, PN Robinson |
PloS one | 2011 |
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism
JP Habashi, JJ Doyle, TM Holm, H Aziz, F Schoenhoff, D Bedja, YC Chen, AN Modiri, DP Judge, HC Dietz |
Science (New York, N.Y.) | 2011 |
Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine
A Li-Wan-Po, B Loeys, P Farndon, D Latham, C Bradley |
British Journal of Clinical Pharmacology | 2011 |
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells
N Quarto, B Leonard, S Li, M Marchand, E Anderson, B Behr, U Francke, R Reijo-Pera, E Chiao, MT Longaker |
Proceedings of the National Academy of Sciences | 2011 |
ADAMTS10 Protein Interacts with Fibrillin-1 and Promotes Its Deposition in Extracellular Matrix of Cultured Fibroblasts*
WE Kutz, LW Wang, HL Bader, AK Majors, K Iwata, EI Traboulsi, LY Sakai, DR Keene, SS Apte |
The Journal of biological chemistry | 2011 |
Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function
D Hubmacher, SS Apte |
Cellular and Molecular Life Sciences | 2011 |
Mitral Valve Disease in Marfan Syndrome and Related Disorders
DP Judge, R Rouf, J Habashi, HC Dietz |
Journal of Cardiovascular Translational Research | 2011 |
A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression
BL Lima, EJ Santos, GR Fernandes, C Merkel, MR Mello, JP Gomes, M Soukoyan, A Kerkis, SM Massironi, JA Visintin, LV Pereira |
PloS one | 2010 |
Marfan syndrome. Part 1: pathophysiology and diagnosis
V Cañadas, I Vilacosta, I Bruna, V Fuster |
Nature Reviews Cardiology | 2010 |
The clinical spectrum of complete FBN1 allele deletions
Y Hilhorst-Hofstee, BC Hamel, JB Verheij, ME Rijlaarsdam, GM Mancini, JM Cobben, C Giroth, CA Ruivenkamp, KB Hansson, J Timmermans, HA Moll, MH Breuning, G Pals |
European Journal of Human Genetics | 2010 |
In vivo studies of mutant fibrillin-1 microfibrils
NL Charbonneau, EJ Carlson, S Tufa, G Sengle, EC Manalo, VM Carlberg, F Ramirez, DR Keene, LY Sakai |
The Journal of biological chemistry | 2010 |
An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures
HL Bader, AL Ruhe, LW Wang, AK Wong, KF Walsh, RA Packer, J Mitelman, KR Robertson, DP O'Brien, KW Broman, GD Shelton, SS Apte, MW Neff |
PloS one | 2010 |
Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation
H Nistala, S Lee-Arteaga, S Smaldone, G Siciliano, L Carta, RN Ono, G Sengle, E Arteaga-Solis, R Levasseur, P Ducy, LY Sakai, G Karsenty, F Ramirez |
The Journal of Cell Biology | 2010 |
The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome
TK Cooper, Q Zhong, M Krawczyk, HJ Tae, GA Müller, R Schubert, LA Myers, HC Dietz, MI Talan, W Briest |
Veterinary pathology | 2010 |
Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome
KM Summers, S Raza, E Nimwegen, TC Freeman, DA Hume |
European Journal of Human Genetics | 2010 |
Evaluating strategies for the treatment of cerebral cavernous malformations
DY Li, KJ Whitehead |
Stroke; a journal of cerebral circulation | 2010 |
Extracellular Microfibrils Control Osteoblast-supported Osteoclastogenesis by Restricting TGFβ Stimulation of RANKL Production*
H Nistala, S Lee-Arteaga, S Smaldone, G Siciliano, F Ramirez |
The Journal of biological chemistry | 2010 |
Drug-Based Therapies for Vascular Disease in Marfan Syndrome: From Mouse Models to Human Patients
JR Cook, H Nistala, F Ramirez |
Mount Sinai Journal of Medicine A Journal of Translational and Personalized Medicine | 2010 |
Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies
CB Kern, A Wessels, J McGarity, LJ Dixon, E Alston, WS Argraves, D Geeting, CM Nelson, DR Menick, SS Apte |
Matrix Biology | 2010 |
Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis
J Olivieri, S Smaldone, F Ramirez |
Fibrogenesis & Tissue Repair | 2010 |
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
Dysfunction of endothelial and smooth muscle cells in small arteries of a mouse model of Marfan syndrome
HT Syyong, AW Chung, HH Yang, C Breemen |
British Journal of Pharmacology | 2009 |
p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice
L Carta, S Smaldone, L Zilberberg, D Loch, HC Dietz, DB Rifkin, F Ramirez |
The Journal of biological chemistry | 2009 |
Murine model of surgically induced acute aortic dissection type A
P Matt, DL Huso, J Habashi, T Holm, J Doyle, F Schoenhoff, G Liu, J Black, JE van Eyk, HC Dietz |
The Journal of Thoracic and Cardiovascular Surgery | 2009 |
Long-term effects of losartan on structure and function of the thoracic aorta in a mouse model of Marfan syndrome: Losartan treats thoracic aortic aneurysm
HH Yang, JM Kim, E Chum, C Breemen, AW Chung |
British Journal of Pharmacology | 2009 |
Circulating Transforming Growth Factor-β in Marfan Syndrome
P Matt, F Schoenhoff, J Habashi, T Holm, CV Erp, D Loch, OD Carlson, BF Griswold, Q Fu, JD Backer, B Loeys, DL Huso, NB McDonnell, JE Eyk, HC Dietz |
Circulation | 2009 |
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
L Faivre, G Collod-Beroud, B Callewaert, A Child, C Binquet, E Gautier, BL Loeys, E Arbustini, K Mayer, M Arslan-Kirchner, C Stheneur, A Kiotsekoglou, P Comeglio, N Marziliano, JE Wolf, O Bouchot, P Khau-Van-Kien, C Beroud, M Claustres, C Bonithon-Kopp, PN Robinson, L Adès, JD Backer, P Coucke, U Francke, AD Paepe, G Jondeau, C Boileau |
European Journal of Human Genetics | 2008 |
Targeted disruption of NeuroD, a proneural basic helix-loop-helix factor, impairs distal lung formation and neuroendocrine morphology in the neonatal lung
ER Neptune, M Podowski, C Calvi, JH Cho, JG Garcia, R Tuder, RI Linnoila, MJ Tsai, HC Dietz |
The Journal of biological chemistry | 2008 |
Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states
RD Cohn, C Erp, JP Habashi, AA Soleimani, EC Klein, MT Lisi, M Gamradt, CM Rhys, TM Holm, BL Loeys, F Ramirez, DP Judge, CW Ward, HC Dietz |
Nature Medicine | 2007 |
Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome: NO production and signaling in Marfan syndrome
AW Chung, KA Yeung, SF Cortes, GG Sandor, DP Judge, HC Dietz, C Breemen |
British Journal of Pharmacology | 2007 |
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.
Mátyás G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W |
Human Genetics | 2007 |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C |
The American Journal of Human Genetics | 2007 |
The molecular genetics of Marfan syndrome and related disorders
PN Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, AD Paepe, HC Dietz, G Guo, PA Handford, DP Judge, CM Kielty, B Loeys, DM Milewicz, A Ney, F Ramirez, DP Reinhardt, K Tiedemann, P Whiteman, M Godfrey |
Journal of medical genetics | 2006 |
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
T Mizuguchi, N Matsumoto |
Journal of Human Genetics | 2006 |
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
JP Habashi, DP Judge, TM Holm, RD Cohn, BL Loeys, TK Cooper, L Myers, EC Klein, G Liu, C Calvi, M Podowski, ER Neptune, MK Halushka, D Bedja, K Gabrielson, DB Rifkin, L Carta, F Ramirez, DL Huso, HC Dietz |
Science | 2006 |
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 |
Marfan's syndrome
DP Judge, HC Dietz |
Lancet | 2005 |
TGFbeta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome
Connie M. Ng, Alan Cheng, Loretha A. Myers, Francisco Martinez-Murillo, Chunfa Jie, Djahida Bedja, Kathleen L. Gabrielson, Jennifer M.W. Hausladen, Robert P. Mecham, Daniel P. Judge, Harry C. Dietz |
Journal of Clinical Investigation | 2004 |
Determination of the molecular basis of Marfan syndrome: a growth industry
PH Byers |
Journal of Clinical Investigation | 2004 |