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Mutations in NOTCH1 cause aortic valve disease

Author

Listed:
  • Vidu Garg

    (University of Texas Southwestern Medical Center
    Children's Medical Center)

  • Alecia N. Muth

    (University of Texas Southwestern Medical Center
    University of California, San Francisco)

  • Joshua F. Ransom

    (University of Texas Southwestern Medical Center
    University of California, San Francisco)

  • Marie K. Schluterman

    (University of Texas Southwestern Medical Center)

  • Robert Barnes

    (University of Texas Southwestern Medical Center
    University of Texas Southwestern Medical Center)

  • Isabelle N. King

    (University of Texas Southwestern Medical Center
    Children's Medical Center
    University of California, San Francisco)

  • Paul D. Grossfeld

    (University of California)

  • Deepak Srivastava

    (University of Texas Southwestern Medical Center
    University of Texas Southwestern Medical Center
    University of Texas Southwestern Medical Center
    Children's Medical Center)

Abstract

NOTCH1 in heart disease A genetic basis for aortic valve calcification, a leading cause of heart disease in adults, has been discovered in a study of congenital heart disease in five generations of the same family. The disease was apparent in family members with a mutation in the transcriptional regulator NOTCH1. The mutant gene causes heart valve defects in transgenic mice. NOTCH1 mutations have previously been identified in human blood cancers, but this is the first indication that it has a role in the development of the heart.

Suggested Citation

  • Vidu Garg & Alecia N. Muth & Joshua F. Ransom & Marie K. Schluterman & Robert Barnes & Isabelle N. King & Paul D. Grossfeld & Deepak Srivastava, 2005. "Mutations in NOTCH1 cause aortic valve disease," Nature, Nature, vol. 437(7056), pages 270-274, September.
    • Handle: RePEc:nat:nature:v:437:y:2005:i:7056:d:10.1038_nature03940
    DOI: 10.1038/nature03940
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    Cited by:

    1. Gaëlle Odelin & Adèle Faucherre & Damien Marchese & Amélie Pinard & Hager Jaouadi & Solena Scouarnec & Raphaël Chiarelli & Younes Achouri & Emilie Faure & Marine Herbane & Alexis Théron & Jean-Françoi, 2023. "Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    2. Jinyong Chen & Tanchen Ren & Lan Xie & Haochang Hu & Xu Li & Miribani Maitusong & Xuhao Zhou & Wangxing Hu & Dilin Xu & Yi Qian & Si Cheng & Kaixiang Yu & Jian`an Wang & Xianbao Liu, 2024. "Enhancing aortic valve drug delivery with PAR2-targeting magnetic nano-cargoes for calcification alleviation," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    3. Pengfei Lu & Ping Wang & Bingruo Wu & Yidong Wang & Yang Liu & Wei Cheng & Xuhui Feng & Xinchun Yuan & Miriam M. Atteya & Haleigh Ferro & Yukiko Sugi & Grant Rydquist & Mahdi Esmaily & Jonathan T. But, 2022. "A SOX17-PDGFB signaling axis regulates aortic root development," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    4. Shujuan Zhao & Kedous Y. Mekbib & Martijn A. Ent & Garrett Allington & Andrew Prendergast & Jocelyn E. Chau & Hannah Smith & John Shohfi & Jack Ocken & Daniel Duran & Charuta G. Furey & Le Thi Hao & P, 2023. "Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations," Nature Communications, Nature, vol. 14(1), pages 1-23, December.

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