Associated Papers
Transcription regulation by TBX18 in smooth muscle cells is essential for normal aortic development and homeostasis.
Mukherjee D et al.
Cardiovascular Research, 2025
Mitochondrial DNA mutations as a potential modifier for the clinical variability of marfan syndrome.
Wu Y et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Skeletal muscle alterations in Marfan syndrome: a systematic review.
Santos AR et al.
Journal of Muscle Research and Cell Motility, 2025
Hemodynamic forces prevent myxomatous valve disease in mice through KLF2/4 signaling.
Pace JA et al.
The Journal of Clinical Investigation, 2025
Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.
Feng X et al.
Drug Design, Development and Therapy, 2025
In Search of Mouse Models for Exfoliation Syndrome.
Kuchtey RW et al.
American Journal of Ophthalmology, 2024
Cerebral Microvascular Density, Permeability of the Blood-Brain Barrier, and Neuroinflammatory Responses Indicate Early Aging Characteristics in a Marfan Syndrome Mouse Model.
Curry-Koski T et al.
Biorxiv : the Preprint Server for Biology, 2024
Versican accumulation drives Nos2 induction and aortic disease in Marfan syndrome via Akt activation.
Ruiz-Rodríguez MJ et al.
Embo Molecular Medicine, 2024
Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.
Singh AA et al.
Frontiers in Cardiovascular Medicine, 2024
Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling.
Aalders J et al.
Frontiers in Cell and Developmental Biology, 2024
Cerebral microvascular density, blood-brain barrier permeability, and support for neuroinflammation indicate early aging in a Marfan syndrome mouse model.
Curry-Koski T et al.
Frontiers in Physiology, 2024
Temporal Progression of Aortic Valve Pathogenesis in a Mouse Model of Osteogenesis Imperfecta.
Thatcher K et al.
Journal of Cardiovascular Development and Disease, 2023
The extracellular matrix glycoprotein fibrillin-1 in health and disease.
Li L et al.
Frontiers in Cell and Developmental Biology, 2023
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Delhon L et al.
Human Molecular Genetics, 2022
Optic neuropathy associated with TGFβ dysregulation in mice with a glaucoma-causative mutation of ADAMTS10.
Wu HJ et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2022
Initial Angiotensin Receptor Blocker Response in Young Marfan Patients Decreases After 3 Years of Treatment.
Pees C et al.
Pediatric Cardiology, 2022
The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology.
Asano K et al.
International Journal of Molecular Sciences, 2022
The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve Degeneration.
Tang Q et al.
Frontiers in Cardiovascular Medicine, 2022
Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.
Li D et al.
Frontiers in Medicine, 2022
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Verhagen JMA et al.
International Journal of Molecular Sciences, 2021
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans.
Yin X et al.
Molecular Genetics & Genomic Medicine, 2021
Respiratory manifestations of Marfan syndrome: a narrative review.
Tun MH et al.
Journal of Thoracic Disease, 2021
Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm.
Oller J et al.
Circulation, 2021
In Vivo and In Vitro Genetic Models of Congenital Heart Disease.
Majumdar U et al.
Cold Spring Harbor Perspectives in Biology, 2021
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
Gori I et al.
Elife, 2021
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
The Molecular Genetics of Marfan Syndrome.
Du Q et al.
International Journal of Medical Sciences, 2021
Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.
Wheeler JB et al.
Advances in Experimental Medicine and Biology, 2021
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.
Arnaud P et al.
Frontiers in Genetics, 2021
Progressive Microstructural Deterioration Dictates Evolving Biomechanical Dysfunction in the Marfan Aorta.
Cavinato C et al.
Frontiers in Cardiovascular Medicine, 2021
ADAMTS proteases in cardiovascular physiology and disease.
Santamaria S et al.
Open Biology, 2020
Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome.
Steijns F et al.
International Journal of Molecular Sciences, 2020
Enhanced Notch3 signaling contributes to pulmonary emphysema in a Murine Model of Marfan syndrome.
Jespersen K et al.
Scientific Reports, 2020
Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.
Muthu ML et al.
Journal of Cell Communication and Signaling, 2020
Accelerated Marfan syndrome model recapitulates established signaling pathways.
Gensicke NM et al.
The Journal of Thoracic and Cardiovascular Surgery, 2020
Deficiency of Circulating Monocytes Ameliorates the Progression of Myxomatous Valve Degeneration in Marfan Syndrome.
Kim AJ et al.
Circulation, 2020
Inhibition of transforming growth factor-β signaling in myeloid cells ameliorates aortic aneurysmal formation in Marfan syndrome.
Hara H et al.
Plos One, 2020
Aortic "Disease-in-a-Dish": Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling.
Davaapil H et al.
Frontiers in Cell and Developmental Biology, 2020
Novel FBN1 Heterozygous Mutations Identified in Chinese Families with Marfan Syndrome.
Yao X et al.
Annals of Clinical and Laboratory Science, 2019
An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology.
Bhushan R et al.
Journal of Cellular and Molecular Medicine, 2019
The Fibrillin-1 RGD Integrin Binding Site Regulates Gene Expression and Cell Function through microRNAs.
Zeyer KA et al.
Journal of Molecular Biology, 2019
Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness.
Ramirez F et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Genetics of the extracellular matrix in aortic aneurysmal diseases.
Lin CJ et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.
Benarroch L et al.
Genes, 2018
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N et al.
International Journal of Molecular Sciences, 2018
Inhibition of the methyltranferase EZH2 improves aortic performance in experimental thoracic aortic aneurysm.
Lino Cardenas CL et al.
Jci Insight, 2018