The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization
Open accessAbstract
The Drosophila scribble gene regulates apical-basal polarity and is implicated in control of cellular architecture and cell growth control. Mutations in mammalian Scrib ( circletail ; Crc mutant) also result in abnormalities suggestive of roles in planar cell polarity regulation. We show that Crc mutants develop heart malformations and cardiomyopathy attributable to abnormalities in cardiomyocyte organization within the early heart tube. N-Cadherin is lost from the cardiomyocyte cell membrane and cell–cell adhesion is disrupted. This results in abnormalities in heart looping and formation of both the trabeculae and compact myocardium, which ultimately results in cardiac misalignment defects and ventricular noncompaction. Thus, these late abnormalities arise from defects occurring at the earliest stages of heart development. Mislocalization of Vangl2 in Crc/Crc cardiomyocytes suggests Scrib is acting in the planar cell polarity pathway in this tissue. Moreover, double heterozygosity for mutations in both Scrib and Vangl2 can cause cardiac defects similar to those found in homozygous mutants for each gene but without other major defects. We propose that heterozygosity for mutations in different genes in the planar cell polarity pathway may be an important mechanism for congenital heart defects and cardiomyopathy in humans.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Interestingly, the early defect in heart tube organization corresponds with the displacement of N-cadherin from the cardiomyocyte membrane.”
From Scribble: A master scaffold in polarity, adhesion, synaptogenesis, and proliferation (2019) · cites this paper as Phillips et al., 2007
In the citing paper
“Characterization of both lung and cardiac defects in circletail mutants also highlighted a role for the PCP pathway in these tissues—in both cases, the distribution of planar polarity protein Vangl2 is disrupted (Phillips et al., 2007; Yates et al., 2013).”
From Scribble: A master scaffold in polarity, adhesion, synaptogenesis, and proliferation (2019) · cites this paper as Phillips et al., 2007
In the citing paper
“Animals homozygous for the circletail allele also have subtle abnormalities in cardiomyocyte organization within the primary heart tube which manifest as gross abnormalities in heart formation at later stages of development (Phillips et al., 2007).”
From Scribble: A master scaffold in polarity, adhesion, synaptogenesis, and proliferation (2019) · cites this paper as Phillips et al., 2007
In the citing paper
“Subsequently, collaborative roles for Scribble and Vangl in PCP were uncovered in diverse other mouse tissues, mediating axon guidance in the hindbrain (Walsh et al., 2011) and heart looping and subsequent cardiac development (Phillips et al., 2007).”
From Scribble: A master scaffold in polarity, adhesion, synaptogenesis, and proliferation (2019) · cites this paper as Phillips et al., 2007
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Building the mammalian heart from two sources of myocardial cells
BUCKINGHAM, M. E., Meilhac, S. M., & Zaffran, S. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1710 · Cited by 1,196
Cooperative Regulation of Cell Polarity and Growth by Drosophila Tumor Suppressors
Bilder, D. H., Li, M., & Perrimon, N. (2000) · Science · doi:10.1126/science.289.5476.113 · Cited by 935
Developmental Defects in Mouse Embryos Lacking N-Cadherin
Radice, G. L., Rayburn, H., Matsunami, H., Knudsen, K. A., Takeichi, M., & Hynes, R. O. (1997) · Developmental Biology · doi:10.1006/dbio.1996.8443 · Cited by 723
Localization of apical epithelial determinants by the basolateral PDZ protein Scribble
Bilder, D., & Perrimon, N. (2000) · Nature · doi:10.1038/35001108 · Cited by 716
Identification of Vangl2 and Scrb1 as planar polarity genes in mammals
Montcouquiol, M., Rachel, R. A., Lanford, P. J., Copeland, N. G., Jenkins, N. A., & Kelley, M. W. (2003) · Nature · doi:10.1038/nature01618 · Cited by 705
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Ross, A. J., May‐Simera, H., Eichers, E. R., Kai, M., Hill, J. E., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P., Fisher, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1644 · Cited by 595
Self-citationEmery and Rimoin's Principles and Practice of Medical Genetics
Rimoin, D. L. (1997) · Cited by 523
Hamblet, N. S., Lijam, N., Ruiz‐Lozano, P., Wang, J., Yang, Y., Luo, Z., Mei, L., Chien, K. R., Sussman, D. J., & Wynshaw-Boris, A. J. (2002) · Development · doi:10.1242/dev.00164 · Cited by 438
Wang, J., Hamblet, N. S., Mark, S., Dickinson, M. E., Brinkman, B. C., Segil, N., Fraser, S. E., Chen, P., Wallingford, J. B., & Wynshaw-Boris, A. J. (2006) · Development · doi:10.1242/dev.02347 · Cited by 363
Isolated ventricular non-compaction of the myocardium in adults
Jenni, R., Oechslin, E. N., & van der Loo, B. (2006) · Heart · doi:10.1136/hrt.2005.082271 · Cited by 314
Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
Murdoch, J. N. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg014 · Cited by 308
Self-citationQin, Y., Capaldo, C., Gumbiner, B. M., & Macara, I. G. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200506094 · Cited by 285
Osmani, N., Vitale, N., Borg, J.-P., & Etienne-Manneville, S. (2006) · Current Biology · doi:10.1016/j.cub.2006.10.026 · Cited by 239
Establishment of cardiac cytoarchitecture in the developing mouse heart
Hirschy, A., Schatzmann, F., Ehler, E., & Perriard, J. (2005) · Developmental Biology · doi:10.1016/j.ydbio.2005.10.046 · Cited by 203
Dow, L. E., Kauffman, J. S., Caddy, J., Peterson, A. S., Jane, S. M., Russell, S. M., & Humbert, P. O. (2007) · Oncogene · doi:10.1038/sj.onc.1210016 · Cited by 187
Phillips, H. M., Murdoch, J. N., Chaudhry, B., Copp, A. J., & Henderson, D. J. (2005) · Circulation Research · doi:10.1161/01.res.0000154912.08695.88 · Cited by 184
Self-citationScribble associates with two polarity proteins, Lgl2 and Vangl2, via distinct molecular domains
Kallay, L. M., McNickle, A., Brennwald, P. J., Hubbard, A. L., & Braiterman, L. T. (2006) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20992 · Cited by 156
hScrib is a functional homologue of the Drosophila tumour suppressor Scribble
Dow, L. E., Brumby, A. M., Muratore, R., Coombe, M. L., Sedelies, K. A., Trapani, J. A., Russell, S. M., Richardson, H. E., & Humbert, P. O. (2003) · Oncogene · doi:10.1038/sj.onc.1207154 · Cited by 123
Myocardial cell shape change as a mechanism of embryonic heart looping
Manasek, F. J., Burnside, M. B., & Waterman, R. E. (1972) · Developmental Biology · doi:10.1016/0012-1606(72)90077-2 · Cited by 120
Pennisi, D. J., Ballard, V. L. T., & Mikawa, T. (2003) · Developmental Dynamics · doi:10.1002/dvdy.10360 · Cited by 113
Biophysical mechanisms of cardiac looping
Taber, L. A. (2006) · The International Journal of Developmental Biology · doi:10.1387/ijdb.052045lt · Cited by 111
Murdoch, J. N., Rachel, R. A., Shah, S., Beermann, F., Stanier, P., Mason, C. A., & Copp, A. J. (2001) · Genomics · doi:10.1006/geno.2001.6638 · Cited by 101
Self-citationPetit, M. M., Meulemans, S. M., Alen, P., Ayoubi, T. A., Jansen, E., & Van de Ven, W. J. (2005) · BMC Cell Biology · doi:10.1186/1471-2121-6-1 · Cited by 99
Rohr, S., Bit‐Avragim, N., & Abdelilah‐Seyfried, S. (2005) · Development · doi:10.1242/dev.02182 · Cited by 93
Henderson, D. J., Conway, S. J., Greene, N. D. E., Gerrelli, D., Murdoch, J. N., Anderson, R. H., & Copp, A. J. (2001) · Circulation Research · doi:10.1161/hh1301.092497 · Cited by 85
Self-citationTrabecular Myocytes of the Embryonic Heart Require N-Cadherin for Migratory Unit Identity
Ong, L.-L., Kim, N., Mima, T., Cohen‐Gould, L., & Mikawa, T. (1998) · Developmental Biology · doi:10.1006/dbio.1997.8775 · Cited by 62
Cadherin2 (N-cadherin) plays an essential role in zebrafish cardiovascular development
Bagatto, B. P., Francl, J., Liu, B., & Liu, Q. (2006) · BMC Developmental Biology · doi:10.1186/1471-213x-6-23 · Cited by 48
de la Cruz, M. V., Sánchez‐Gómez, C., & Cayre, R. O. (1991) · Cardiology in the Young · doi:10.1017/s1047951100000238 · Cited by 38
Research works printed but not linked: 1
- 10.1161/res.89.1.6 · DOI
Cited by
Sorted by citations
A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice
Eley, L., Alqahtani, A., MacGrogan, D., Richardson, R. V., Murphy, L. B., Salguero-Jiménez, A., Pedro, M. S. R. S., Tiurma, S., McCutcheon, L., Gilmore, A., et al. (2018) · eLife · doi:10.7554/elife.34110 · Cited by 1,140
Self-citationPlanar Cell Polarity Signaling: From Fly Development to Human Disease
Simons, M., & Mlodzik, M. (2008) · Annual Review of Genetics · doi:10.1146/annurev.genet.42.110807.091432 · Cited by 600
Vincent, S. D., & BUCKINGHAM, M. E. (2010) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(10)90001-x · Cited by 390
Genetics of human neural tube defects
Greene, N. D. E., Stanier, P., & Copp, A. J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp347 · Cited by 321
Self-citationFinsterer, J. (2009) · Pediatric Cardiology · doi:10.1007/s00246-008-9359-0 · Cited by 221
Metadata
- Authors
- Phillips, H. M., Rhee, H. J., Murdoch, J. N., Hildreth, V., Peat, J. D., Anderson, R. H., Copp, A. J., Chaudhry, B., & Henderson, D. J.
- Affiliations
- University College London (GB)
- Venue
- Circulation Research
- Published
- 2007-07-20
- Volume
- 101
- Issue
- 2
- Pages
- 137-145
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- OpenAlex
- W2140577425
- Cited by
- 133
- References
- 28
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 10 · 2023: 4 · 2022: 7 · 2021: 4 · 2020: 4 · 2019: 5 · 2018: 13 · 2017: 5 · 2016: 5 · 2015: 9 · 2014: 6 · 2013: 7 · 2012: 10
- FWCI
- 3.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Circulation Research (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (068883)
- British Heart Foundation (PG/11/76/29108)
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- planar cell polarity, Scribble, Vangl2, congenital heart disease, cardiomyopathy, heart tube, N-cadherin, cell-cell adhesion, heart looping, ventricular noncompaction, trabeculae, compact myocardium, heterozygosity, Drosophila heart development
- MeSH terms
- Animals, Breeding, Heart Defects, Congenital, Heart Ventricles, Heterozygote, Humans, Mice, Mutant Strains, Mutation, Cardiomyopathies, Myocardium, Nerve Tissue Proteins, Cell Polarity, Protein Transport, Myocytes, Cardiac, Intracellular Signaling Peptides and Proteins, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
