4 research outputs found
Therapeutic approaches for neonatal abstinence syndrome: a systematic review of randomized clinical trials
International audienc
The International Mouse Phenotyping Consortium (IMPC): A functional catalogue of the mammalian genome that informs conservation (vol 19, pg 995, 2018).
The original publication of this article unfortunately contained the following mistakes
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Clinical presentation of congenital heart disease is heterogeneous,
making identification of the disease-causing genes and their genetic
pathways and mechanisms of action challenging. By using in vivo
electrocardiography, transthoracic echocardiography and microcomputed
tomography imaging to screen 3,894 single-gene-null mouse lines for
structural and functional cardiac abnormalities, here we identify 705
lines with cardiac arrhythmia, myocardial hypertrophy and/or ventricular
dilation. Among these 705 genes, 486 have not been previously
associated with cardiac dysfunction in humans, and some of them
represent variants of unknown relevance (VUR). Mice with mutations in Casz1, Dnajc18, Pde4dip, Rnf38 or Tmem161b
genes show developmental cardiac structural abnormalities, with their
human orthologs being categorized as VUR. Using UK Biobank data, we
validate the importance of the DNAJC18 gene for cardiac
homeostasis by showing that its loss of function is associated with
altered left ventricular systolic function. Our results identify
hundreds of previously unappreciated genes with potential function in
congenital heart disease and suggest causal function of five VUR in
congenital heart disease