Associated Papers
Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
Crochemore C et al.
Aging Cell, 2023
37688320 (PubMed )
Supplement: ACEL-22-e13959-s001.zip › acel13959-sup-0001-Supinfo › acel13959-sup-0001-Supinfo › Supplementary_Information_Revision__Crochemore_et_al.pdf
Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Bolunduț AC et al.
Children (basel, Switzerland), 2023
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Miyao N et al.
Plos One, 2020
Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.
Miyao N et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM et al.
Plos Genetics, 2016
26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table
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