ArticleHGG advances2021
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.
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Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
0.9field-weighted citation impact, top 27% of its field
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Protocadherin gamma subfamily A, 3 inhibits the proliferation and metastasis of lung adenocarcinoma by inhibiting transforming growth factor β signaling pathway.Respiratory research · 2026Article
- The multiomics blueprint of the individual with the most extreme lifespan.Cell reports. Medicine · 2025Article
- Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease.Nature communications · 2025Article
- Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.Journal of clinical medicine · 2024Article
- Hypoplastic Left Heart Syndrome: Signaling & Molecular Perspectives, and the Road Ahead.International journal of molecular sciences · 2023Review
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome.World journal for pediatric & congenital heart surgery · 2022Article
- Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.HGG advances · 2022Article
- Endocardial Regulation of Cardiac Development.Journal of cardiovascular development and disease · 2022Review
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Authors and funding
41 authors at 11 institutions in 3 countries.
Polakit TeekakirikulDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Wenjuan ZhuCentre for Cardiovascular Genomics and Medicine, Division of Cardiology, and Division of Medical Sciences, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong SAR, China.
George C GabrielDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Cullen B YoungDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Kylia WilliamsDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Lisa J MartinDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, OH, USA.
Jennifer C HillDepartment of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
Tara RichardsDepartment of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
Marie BillaudDepartment of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
Julie A PhillippiDepartment of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
Jianbin WangSchool of Life Sciences, Tsinghua University, Beijing, China.
Yijen WuDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Tuantuan TanDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
William DevineDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Jiuann-Huey LinDepartment of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Abha S BaisDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Jonathan KlonowskiDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Anne Moreau de BellaingDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Ankur SainiDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Michael X WangDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Leonid EmerelDepartment of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
Nathan SalamachaDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Samuel K WymanDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Carrie LeeCentre for Cardiovascular Genomics and Medicine, Division of Cardiology, and Division of Medical Sciences, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong SAR, China.
Hung Sing LiCentre for Cardiovascular Genomics and Medicine, Division of Cardiology, and Division of Medical Sciences, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong SAR, China.
Anastasia MironDivision of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Jingyu ZhangDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Jianhua XingDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Dennis M McNamaraHeart and Vascular Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Erik FungCentre for Cardiovascular Genomics and Medicine, Division of Cardiology, and Division of Medical Sciences, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong SAR, China.
Paul KirshbomSanger Heart & Vascular Institute, Charlotte, NC, USA.
William MahleDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA.
Lazaros K KochilasDepartment of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA.
Yihua HeDepartment of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Vidu GargCenter for Cardiovascular Research, The Heart Center, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Peter WhiteThe Institute for Genomic Medicine, Center for Cardiovascular Research, Nationwide Children's Hospital and Department of Pediatrics, Ohio State University College of Medicine, Columbus, OH, USA.
Kim L McBrideCenter for Cardiovascular Research, The Heart Center, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
D Woodrow BensonDepartment of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Thomas G GleasonDivision of Cardiac Surgery, Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Seema MitalDivision of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Cecilia W LoDepartment of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
University of Pittsburgh · USChinese University of Hong Kong · CNMcGowan Institute for Regenerative Medicine · USBeijing Anzhen Hospital · CNBon Secours Heart & Vascular Institute · USChildren's Healthcare of Atlanta · USCincinnati Children's Hospital Medical Center · USDélégation Paris 5 · FRMedical College of Wisconsin · USTsinghua University · CNUniversity of Pittsburgh Medical Center · US
Funding
ROS Mechanisms in BAV AortopathyR01HL109132 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GLEASON, THOMAS GILLETTE · 2012 to 2024
$6.2MCellular Approaches to Tissue Engineering/RegenerationT32EB001026 · NIBIB · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUNCAN, ANDREW W, MONGA, SATDARSHAN SINGH · 2003 to 2024
$5.5MModeling the complex genetics of congenital heart disease in miceR01HL132024 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LO, CECILIA W. · 2016 to 2019
$3.4MMechanism of LV Hypoplasia in Hypoplastic Left Heart Syndrome SupplementR01HL142788 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LO, CECILIA W., TSANG, MICHAEL WAIKOK · 2018 to 2021
$3.3MGating-Free Ultra-Fast Fetal Cardiac MRI with Sub-Nyquist Sampling for Live in Utero Imaging and Cardiovascular Phenotyping of Fetal MiceR21EB023507 · NIBIB · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI WU, YIJEN LIN · 2019 to 2020
$452kBrain Abnormalities and Neurobehavioral Deficits in Hypoplastic Left Heart SyndromeF30HD097967 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GABRIEL, GEORGE CHRISTOPHER · 2019 to 2023
$238kDerepression of Hedgehog Signaling in Congenital Heart Disease PatientsF31HL152659 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KLONOWSKI, JONATHAN · 2020 to 2022
$107kNHLBI NIH HHS F31 HL152659NHLBI NIH HHS R01 HL109132NHLBI NIH HHS R01 HL132024NHLBI NIH HHS R01 HL142788NIBIB NIH HHS R21 EB023507NIBIB NIH HHS T32 EB001026NICHD NIH HHS F30 HD097967
Abstract
Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare left-heart obstructions (left ventricular outflow tract obstructions [LVOTOs]), including hypoplastic left heart syndrome (HLHS) and coarctation of the aorta (CoA). Mouse and human studies indicate LVOTO is genetically heterogeneous with a complex genetic etiology. Homozygous mutation in the
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