Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Richer J et al.
Journal of Medical Genetics, 2025
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A et al.
Frontiers in Cardiovascular Medicine, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Cardiovascular pathology, inheritance and prognosis in a familial cohort of Loeys-Dietz type III.
Kay RT et al.
International Journal of Cardiology, 2024
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP et al.
Human Molecular Genetics, 2024
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay.
Sheppard MB et al.
Frontiers in Cardiovascular Medicine, 2023
SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis.
El-Gazzar A et al.
Bone Reports, 2022
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Burger J et al.
Human Molecular Genetics, 2021
Endovascular repair of a dissecting pararenal abdominal aortic aneurysm in a patient with type III Loeys-Dietz syndrome.
Bellamkonda KS et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2021
Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.
Verdugo-Sivianes EM et al.
Theranostics, 2021
Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports.
Keravnou A et al.
Molecular Genetics & Genomic Medicine, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM et al.
Journal of Medical Genetics, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation.
van der Pluijm I et al.
Cardiovascular Research, 2018
Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations.
van den Hoven AT et al.
Circulation. Genomic and Precision Medicine, 2018
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene.
Backer J et al.
Molecular Genetics & Genomic Medicine, 2018
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.
Hou H et al.
Oncotarget, 2017
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.
Courtois A et al.
European Journal of Medical Genetics, 2017
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Campens L et al.
Orphanet Journal of Rare Diseases, 2015
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
Zhang W et al.
Biomed Research International, 2015
Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.
Raine EV et al.
Osteoarthritis and Cartilage, 2014
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A et al.
American Journal of Medical Genetics. Part A, 2013
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM et al.
Journal of Medical Genetics, 2012
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM et al.
Nature Genetics, 2011
A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality.
Maeda Y et al.
Cardiology, 0