Genetic screening of the canine zinc finger protein multitype 2 (c<i>ZFPM2</i>) gene in dogs with tetralogy of Fallot (TOF)

Lee, J.‐S.; Hyun, Changbaig

doi:10.1111/j.1439-0388.2008.00776.x

Cited by 6 publications

(2 citation statements)

References 20 publications

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“…Another possibility is that VEGF polymorphisms may affect the response of the fetal heart to hypoxia, which is a common trigger for CHD. SNPs in the VEGF gene may affect VEGF expression and function and have been connected with a higher risk of several cardiovascular diseases, including CHD [ 49 , 50 , 51 ]. In mouse embryos, over expression, and increased function of VEGF was associated with TOF, pulmonary stenosis, and ventricular septal defects [ 52 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

et al. 2023

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(1) Background: Vascular endothelial growth factor (VEGF) is essential in vasculo- and angiogenesis due to its role in endothelial cell proliferation and migration. As a vascular proliferative factor, VEGF is one of the hallmarks of cancer and, in adult populations, the relationship between genetic polymorphism and neoplasm was widely investigated. For the neonatal population, only a few studies attempted to uncover the link between the genetic polymorphism of VEGF and neonatal pathology, especially related to late-onset complications. Our objective is to evaluate the literature surrounding VEGF genetic polymorphisms and the morbidity of the neonatal period. (2) Methods: A systematic search was initially conducted in December 2022. The PubMed platform was used to explore MEDLINE (1946 to 2022) and PubMed Central (2000 to 2022) by applying the search string ((VEGF polymorphism*) and newborn*). (3) Results: The PubMed search yielded 62 documents. A narrative synthesis of the findings was undertaken considering our predetermined subheadings (infants with low birth weight or preterm birth, heart pathologies, lung diseases, eye conditions, cerebral pathologies, and digestive pathologies). (4) Conclusion: The VEGF polymorphisms seem to be associated with neonatal pathology. The involvement of VEGF and VEGF polymorphism has been demonstrated for retinopathy of prematurity.

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Section: Resultsmentioning

confidence: 99%

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

et al. 2023

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“…Tetralogy of Fallot (TOF) is a rare defect, accounting for 1–3% of total CHDs in dogs [ 14 , 17 ]. In the Keeshonds breed, various genetic studies on TOF have been conducted, which indicate an onset of the defect linked to oligogenetic expression [ 49 , 50 ]. TOF is caused by abnormal embryonic development of the conotruncal septum, which deviates in an anterosuperior direction; this profoundly alters the geometry of cardiac development.…”

Section: Common Congenital Heart Abnormalitiesmentioning

confidence: 99%

Identification and Clinical Significance of Heart Murmurs in Puppies Involved in Puppy Trade

Pugliese

Biondi

Maestra

et al. 2021

Veterinary Sciences

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The detection of a congenital heart defect at purchase is an important step in early detection from a clinical and legal standpoint. Indeed, some cardiac abnormalities may be corrected with surgery, and very often, treatment needs to be performed early before congestive heart failure or irreversible heart damage can occur. From a legal viewpoint, if the defect is revealed in a newly purchased puppy, the buyer may be required to return it and receive compensation. Puppies affected with congenital heart defects are likely to die prematurely, causing emotional suffering to the owner. Furthermore, by considering breed predisposition, early recognition allows breeders to avoid breeding from particular dogs with genetic defects and prevent the continuation of genetic defects in breeding lines. Given gaps in the literature about the recognition of murmurs in the puppy trade, the present article describes how to identify a heart murmur in a puppy during a pre-purchase examination and its significance from a clinical and legal viewpoint. In the canine population, the prevalence of cardiac defects ranges between 0.13 and 1.6%. Pulmonic stenosis is the most common defect found in puppies, followed by patent ductus arteriosus, subaortic stenosis, and ventricular septal defect. On the basis of the above considerations, the veterinarian should recognize and identify the murmur following a protocol for routine examination of puppies involved in trade.

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Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients

Tian

Liu

et al. 2017

Mol Genet Genomics

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Conotruncal heart defects (CTDs) are a group of cardiac malformations that involve outflow tract anomalies and the arterial pole of the heart. Recent reports have identified mutations in a number of genes associated with CTDs in human and animal models. ZFPM2 plays a role in cardiac development by acting as a transcriptional cofactor that interacts with GATA4. Because ZFPM2 was found to be important for cardiac development in a knockout mouse model, we screened for ZFPM2 mutations in 528 CTD patients. We identified six rare and nonsynonymous ZFPM2 variants, and this was the first time that five of these variants (R698Q, R736L, E1005K, T32A, and I488V) were reported in East Asians. Western blots showed that there was no significant difference in the protein expression of wild-type ZFPM2, ZFPM2R698Q, or ZFPM2R736L. A dual luciferase reporter assay demonstrated that both ZFPM2 mutants R698Q and R736L reduced GATA4-mediated transcription. However, when ZFPM2R698Q was co-transfected with GATA4, BNP promoter activity increased significantly, whereas co-transfection with ZFPM2R736L and GATA4 did not significantly increase BNP promoter activity. This suggests that the R698Q mutation may affect the ability of ZFPM2 to bind GATA4.

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Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF)

Cited by 6 publications

References 20 publications

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

Genetic Polymorphisms of Vascular Endothelial Growth Factor in Neonatal Pathologies: A Systematic Search and Narrative Synthesis of the Literature

Identification and Clinical Significance of Heart Murmurs in Puppies Involved in Puppy Trade

Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients

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