ArticleAmerican journal of human genetics2003
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
70 citing papers in PubMed, 3 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- The roles ofBioscience reports · 2018Pooled it
- Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis.BMC medical genetics · 2017Pooled it
- Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.Pediatric cardiology · 2016Pooled it
- Behavioral genomics identifies Creld1 as a cross-modal regulator of somatosensation.Nature neuroscience · 2026Article
- A bioinformatic survey of RNA isoform diversity and expression across 9 GTEx tissues using long-read sequencing data.BMC genomics · 2025Article
- Construction of a Novel Secreted Protein Database and Identification of a New Adipokine CRELD2.Diabetes & metabolism journal · 2025Article
- Article
- Human epicardial organoids from pluripotent stem cells resemble fetal stage with potential cardiomyocyte- transdifferentiation.Cell & bioscience · 2025Article
- BiallelicBrain communications · 2025Article
- Cardioprotective effects of the angiocrine CRELD2 after ischemic injury.Nature cardiovascular research · 2024Article
- Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Human Genetics of Defects of Situs.Advances in experimental medicine and biology · 2024Review
- Human Genetics of Atrioventricular Septal Defect.Advances in experimental medicine and biology · 2024Review
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.Human genetics · 2023Article
- Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation.International journal of molecular sciences · 2023Review
- CRELD2, endoplasmic reticulum stress, and human diseases.Frontiers in endocrinology · 2023Review
- CRELD2 is a novel modulator of calcium release and calcineurin-NFAT signalling during osteoclast differentiation.Scientific reports · 2022Article
- Calcineurin in the heart: New horizons for an old friend.Cellular signalling · 2021Review
- Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Translational pediatrics · 2021Review
10 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although frequently associated with trisomy 21, autosomal dominant AVSD has also been described. Recently we identified and characterized the cell adhesion molecule CRELD1 (previously known as "cirrin") as a candidate gene for the AVSD2 locus mapping to chromosome 3p25. Analysis of the CRELD1 gene from individuals with non-trisomy 21-associated AVSD identified heterozygous missense mutations in nearly 6% of this population, including mutations in isolated AVSD and AVSD associated with heterotaxy syndrome. CRELD1 is the first human gene to be implicated in the pathogenesis of isolated AVSD and AVSD in the context of heterotaxy, which provides an important step in unraveling the pathogenesis of AVSD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.