Concepedia

Tbx5 Variants

TBX5 Variants is a genetic construct representing specific alterations in the TBX5 gene, a T-box transcription factor gene, that are associated with disrupted cardiac development and implicated in congenital heart disease, particularly in Holt-Oram syndrome.

67

Publications

5.3K

Citations

661

Authors

311

Institutions

Publications per year

2017–2026

22

Parents

Publications

67

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

Vidu Garg, Irfan S. Kathiriya, R. Bowling Barnes et al. · Nature · 2003 · 1.2K citations

, , +14

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Newbury-Ecob Ra, David I. Wilson, Andrew R.J. Curtis et al. · Nature Genetics · 1997 · 929 citations

, , +8

Okihiro syndrome is caused by SALL4 mutations

J. Kohlhase · Human Molecular Genetics · 2002 · 321 citations

, , +15

A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation

Alex V. Postma, Judith B.A. van de Meerakker, Inge B. Mathijssen et al. · Circulation Research · 2008 · 190 citations

, , +16

<i>Pitx2</i> modulates a <i>Tbx5</i> -dependent gene regulatory network to maintain atrial rhythm

Rangarajan D. Nadadur, Michael Broman, Bastiaan J. Boukens et al. · Science Translational Medicine · 2016 · 154 citations · Full text

, , +14

1–5 of 67

Authors

661

  1. YY
    Yi‐Qing Yang

    Shanghai Chest Hospital, China

    5 publications · 163 citations

    5

    h-index

  2. XQ
    Xing‐Biao Qiu

    Shanghai Chest Hospital, China

    5 publications · 163 citations

    5

    h-index

  3. YX
    Ying‐Jia Xu

    Shanghai Jiao Tong University, China

    5 publications · 176 citations

    4

    h-index

  4. XL
    Xu Liu

    Shanghai Chest Hospital, China

    3 publications · 70 citations

    3

    h-index

  5. UG
    Ursula G. Froster

    Leipzig University, Germany

    3 publications · 92 citations

    3

    h-index

1–5 of 661

Institutions

311

  1. Shanghai Jiao Tong University

    Shanghai, China

    7 h-index

    51 publications

    1.7K citations

  2. Shanghai Chest Hospital

    Shanghai, China

    5 h-index

    39 publications

    1.4K citations

  3. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    4 h-index

    15 publications

    1.3K citations

  4. Cornell University

    Ithaca, United States

    3 h-index

    15 publications

    1.4K citations

  5. Tongji Hospital

    Wuhan, China

    3 h-index

    6 publications

    190 citations

  6. University of Michigan

    Ann Arbor, United States

    3 h-index

    5 publications

    1.2K citations

  7. Tongji University

    Shanghai, China

    3 h-index

    8 publications

    296 citations

  8. First Affiliated Hospital of Dalian Medical University

    Dalian, China

    3 h-index

    22 publications

    460 citations

1–8 of 311

Venues

  1. American Journal of Medical Genetics Part A

    8 publications · 264 citations

    8

    h-index

  2. Scientific Reports

    3 publications · 85 citations

    3

    h-index

  3. eLife

    3 publications · 51 citations

    3

    h-index

  4. Cardiovascular Research

    CVR · 3 publications · 133 citations

    3

    h-index

  5. PLoS ONE

    3 publications · 47 citations

    3

    h-index

1–5