Chromosomal Location and Identification of TBX20 as a New Gene Responsible for Familial Bicuspid Aortic Valve

Diagnostics, Год журнала: 2025, Номер 15(5), С. 600 - 600

Опубликована: Март 1, 2025

Background/Objectives: Congenital bicuspid aortic valve (BAV) signifies the most frequent category of congenital cardiovascular anomaly globally, occurring in approximately 0.5–2% general population worldwide. BAV is a major cause thoracic aortopathy, encompassing stenosis, root dilation with regurgitation, dissection, and aneurysms, consequently leading to substantial late-onset morbidity mortality. Accumulating evidence convincingly demonstrates strong genetic basis underpinning BAV, though inheritable reasons responsible for patients remain largely obscure. Methods: A genome-wide genotyping 400 polymorphic markers followed by linkage analysis, haplotype assay, sequencing analysis candidate genes was conducted 4-generation kindred 47 individuals. Biochemical assays were performed evaluate functional effect identified mutation on TBX20. Results: novel BAV-causative locus mapped chromosome 7p14. assay within chromosomal region (locus) unveiled that only c.656T>G (p.Ile219Arg) variation TBX20 co-segregation entire pedigree. The missense not uncovered 322 healthy persons employed as control Functional deciphers revealed significantly decreased transcriptional activation representative target gene ANP binding ability promoter impaired intranuclear distribution Conclusions: This investigation maps new (chromosome 7p14) linked uncovers causative familial adding more insight into mechanisms underlying providing molecular individualized management BAV.

Язык: Английский

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Expression profile and functional analysis of miR-301b in patients with breast cancer: A bioinformatics, biochemical, and histopathological study

Pathology - Research and Practice, Год журнала: 2024, Номер 262, С. 155536 - 155536

Опубликована: Авг. 12, 2024

Язык: Английский

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Association of epistatic effects of MTHFR, ACE, APOB, and APOE gene polymorphisms with the risk of myocardial infarction and unstable angina in Egyptian patients

Gene, Год журнала: 2023, Номер 895, С. 147976 - 147976

Опубликована: Ноя. 10, 2023

Язык: Английский

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Missense Mutations in the CITED2 Gene Contribute to Congenital Heart Disease

Research Square (Research Square), Год журнала: 2024, Номер unknown

Опубликована: Март 25, 2024

Abstract Background Congenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved development could cause congenital disease. The CITED2 gene works as transcription factor the hypoxic pathway for of heart. Therefore, five CHD types, ventricular septal defect, atrial atrioventricular tetralogy Fallot, and patent ductus arteriosus, were evaluated by conducting targeted single nucleotide polymorphism (SNP) analysis variant rs375393125 (T > C). This study aimed to identify association patients. Methods A total 350 samples collected 250 patients 100 controls genetic analysis. Allele-specific PCR gel electrophoresis used target missense mutations. genotypic results CHDs further validated through Sanger sequencing. Results frequency homozygous mutant (CC) was 48.4% heterozygous (TC) genotype 11.4%; these percentages are higher than (1%). control had only one TC no CC genotype. chi-square value obtained at 103.9 with probability 0.05, which greater significance 21.03. odds ratio 43.7, 1. calculated ANOVA 11.6, more significant F critical 3.7. As result sequencing, sample each selected type found or like those conventional PCR. Conclusion patient’s showed it can say SNP might be associated CHD.

Язык: Английский

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Missense mutations in the CITED2 gene may contribute to congenital heart disease

BMC Cardiovascular Disorders, Год журнала: 2024, Номер 24(1)

Опубликована: Сен. 27, 2024

Язык: Английский

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