De novo variants in gene regulatory regions contribute to CHD

被引:0
|
作者
Fernandez-Ruiz, Irene
机构
[1] Nature Reviews Cardiology,
关键词
D O I
10.1038/s41569-020-0420-x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Non-coding de novo variants (DNVs) contribute to congenital heart disease (CHD) through transcriptional and post-transcriptional regulatory effects during cardiac development. The proportion of individuals with CHD ascribed to non-coding DNVs might be at least as high as that with CHD attributed to coding DNVs
引用
收藏
页码:541 / 541
页数:1
相关论文
共 50 条
  • [1] De novo variants in gene regulatory regions contribute to CHD
    Irene Fernández-Ruiz
    Nature Reviews Cardiology, 2020, 17 : 541 - 541
  • [2] De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies
    Nirmal Vadgama
    Mohamed Ameen
    Laksshman Sundaram
    Sadhana Gaddam
    Casey Gifford
    Jamal Nasir
    Ioannis Karakikes
    Human Genomics, 16
  • [3] De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies
    Vadgama, Nirmal
    Ameen, Mohamed
    Sundaram, Laksshman
    Gaddam, Sadhana
    Gifford, Casey
    Nasir, Jamal
    Karakikes, Ioannis
    HUMAN GENOMICS, 2022, 16 (01)
  • [4] Noncoding de novo variants contribute to congenital heart disease
    Dengler, V. L.
    GENETICS IN MEDICINE, 2020, 22 (09) : 1430 - 1430
  • [5] HOW MUCH DO RARE DE NOVO VARIANTS CONTRIBUTE TO AUTISM?
    Nadig, Ajay
    Lu, Wenhan
    Fu, Jack
    Satterstrom, F. Kyle
    Karczewski, Konrad
    Talkowski, Michael
    Robinson, Elise
    O'Connor, Luke
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2024, 87 : 63 - 64
  • [6] De Novo Gene Variants and Familial Bipolar Disorder
    Toma, Claudio
    Shaw, Alex D.
    Overs, Bronwyn J.
    Mitchell, Philip B.
    Schofield, Peter R.
    Cooper, Antony A.
    Fullerton, Janice M.
    JAMA NETWORK OPEN, 2020, 3 (05) : E203382
  • [7] De novo damaging variants associated with congenital heart diseases contribute to the connectome
    Ji, Weizhen
    Ferdman, Dina
    Copel, Joshua
    Scheinost, Dustin
    Shabanova, Veronika
    Brueckner, Martina
    Khokha, Mustafa K.
    Ment, Laura R.
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [8] De novo damaging variants associated with congenital heart diseases contribute to the connectome
    Weizhen Ji
    Dina Ferdman
    Joshua Copel
    Dustin Scheinost
    Veronika Shabanova
    Martina Brueckner
    Mustafa K. Khokha
    Laura R. Ment
    Scientific Reports, 10
  • [9] De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome
    Pranckeniene, Laura
    Preiksaitiene, Egle
    Gueneau, Lucie
    Reymond, Alexandre
    Kucinskas, Vaidutis
    GENOMICS INSIGHTS, 2019, 12 : 1 - 5
  • [10] De novo variants in immune regulatory genes in Down syndrome regression disorder
    Jafarpour, Saba
    Banerjee, Abhik K.
    Khoshnood, Mellad M.
    Vogel, Benjamin N.
    Boyd, Natalie K.
    Nguyen, Lina
    Partridge, Rebecca
    Santoro, Stephanie L.
    Gombolay, Grace Y.
    Fisher, Kristen S.
    de Asua, Diego Real
    del Ortega, Maria Carmen
    Franklin, Cathy
    Rafii, Michael S.
    Santoro, Jonathan D.
    JOURNAL OF NEUROLOGY, 2024, 271 (08) : 5567 - 5576