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
  • [41] MOLECULAR AND IN SILICO ANALYSIS OF CHD2 AND CHD8 DE NOVO MUTATIONS IN NEURODEVELOPMENTAL DISORDERS
    Muhammad, Tahir
    Pastore, Stephen F.
    Mikhailov, Anna
    Madanagopal, Thulasi
    Good, Katrina
    Ausio, Juan
    Vincent, John B.
    EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2023, 75 : S131 - S132
  • [42] CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
    Cao, Xuanye
    Wolf, Annika
    Kim, Sung-Eun
    Cabrera, Robert M.
    Wlodarczyk, Bogdan J.
    Zhu, Huiping
    Parker, Margaret
    Lin, Ying
    Steele, John W.
    Han, Xiao
    Ramaekers, Vincent Th
    Steinfeld, Robert
    Finnell, Richard H.
    Lei, Yunping
    JOURNAL OF MEDICAL GENETICS, 2021, 58 (07) : 484 - 494
  • [43] De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
    Nicola, Pantelis
    Blackburn, Patrick R.
    Rasmussen, Kristen J.
    Bertsch, Nicole L.
    Klee, Eric W.
    Hasadsri, Linda
    Pichurin, Pavel N.
    Rankin, Julia
    Raymond, F. Lucy
    Clayton-Smith, Jill
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 570 - 578
  • [44] The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
    Pinard, Amelie
    Guey, Stephanie
    Guo, Dongchuan
    Cecchi, Alana C.
    Kharas, Natasha
    Wallace, Stephanie
    Regalado, Ellen S.
    Hostetler, Ellen M.
    Sharrief, Anjail Z.
    Bergametti, Francoise
    Kossorotoff, Manoelle
    Herve, Dominique
    Kraemer, Markus
    Bamshad, Michael J.
    Nickerson, Deborah A.
    Smith, Edward R.
    Tournier-Lasserve, Elisabeth
    Milewicz, Dianna M.
    GENETICS IN MEDICINE, 2020, 22 (02) : 427 - 431
  • [45] Identification and characterization of de novo gene variants in congenital anomalies of the kidney and urinary tract (CAKUT)
    van de Hoek, Glenn
    Klasson, Tim
    Nijman, Ies J.
    Renkema, Kirsten Y.
    Giles, Rachel
    Knoers, Nine V.
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1541 - 1541
  • [46] Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome
    Ji, Qinghong
    Ma, Weihong
    Xin, Gang
    Xin, Qian
    Duan, Shuhong
    Ding, Mingxia
    Dong, Lihua
    Li, Zhiqiang
    Hong, Fanzhen
    PSYCHIATRIC GENETICS, 2025, 35 (01)
  • [47] De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
    Yang, Haipo
    Gong, Pan
    Jiao, Xianru
    Niu, Yue
    Zhou, Qiujun
    Zhang, Yuehua
    Yang, Zhixian
    FRONTIERS IN NEUROLOGY, 2021, 12
  • [48] Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease
    Morton, Sarah U.
    Norris-Brilliant, Ami
    Cunningham, Sean
    King, Eileen
    Goldmuntz, Elizabeth
    Brueckner, Martina
    Miller, Thomas A.
    Thomas, Nina H.
    Liu, Chunyan
    Adams, Heather R.
    Bellinger, David C.
    Cleveland, John
    Cnota, James F.
    Dale, Anders M.
    Frommelt, Michele
    Gelb, Bruce D.
    Grant, P. Ellen
    Goldberg, Caren S.
    Huang, Hao
    Kuperman, Joshua M.
    Li, Jennifer S.
    McQuillen, Patrick S.
    Panigrahy, Ashok
    Porter, George A.
    Roberts, Amy E.
    Russell, Mark W.
    Seidman, Christine E.
    Tivarus, Madalina E.
    Anagnoustou, Evdokia
    Hagler, Donald J.
    Chung, Wendy K.
    Newburger, Jane W.
    JAMA NETWORK OPEN, 2023, 6 (01) : E2253191
  • [49] Recombinant Human Collagen and Biomimetic Variants Using a De Novo Gene Optimized for Modular Assembly
    Chan, Sam Wei Polly
    Hung, She-Pin
    Raman, Senthil Kumar
    Hatfield, G. Wesley
    Lathrop, Richard H.
    Da Silva, Nancy A.
    Wang, Szu-Wen
    BIOMACROMOLECULES, 2010, 11 (06) : 1460 - 1469
  • [50] De Novo Mutations in Conserved Genes Contribute to OCD Risk
    Jung, Seulgi
    Cappi, Carolina
    Avila, Marina Natividad
    Roeder, Kathryn
    Crowley, James
    Mahjani, Behrang
    Buxbaum, Joseph
    Grice, Dorothy
    NEUROPSYCHOPHARMACOLOGY, 2022, 47 : 306 - 307