نتایج جستجو برای: nkx2
تعداد نتایج: 827 فیلتر نتایج به سال:
Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia in humans and is responsible for substantial morbidity and mortality worldwide. Emerging evidence indicates that abnormal cardiovascular development is involved in the pathogenesis of AF. In this study, the coding exons and splice sites of the NKX2-5 gene, which encodes a homeodomain-containing transcription factor...
Germline mutations in cardiac-specific transcription factor genes have been associated with congenital heart disease (CHD) and the homeodomain transcription factor NKX2-5 is an important member of this group. Indeed, more than 40 heterozygous NKX2-5 germline mutations have been observed in individuals with CHD, and these are spread along the coding region, with many shown to impact protein func...
The homeodomain factor Nkx2-5 is expressed in cardiac progenitor cells of the first and second heart fields, and in differentiating cardiomyocytes and conduction cells. NKX2-5 mutations cause congenital heart disease (CHD) and conduction disease (CD) in humans. Nkx2-5 acts as both a repressor and an activator, and one of its early roles is to repress, through a negative feedback loop, the expre...
Unraveling the gene regulatory networks that govern development and function of the mammalian heart is critical for the rational design of therapeutic interventions in human heart disease. Using the Drosophila heart as a platform for identifying novel gene interactions leading to heart disease, we found that the Rho-GTPase Cdc42 cooperates with the cardiac transcription factor Tinman/Nkx2-5. Co...
Mice lacking the homeodomain transcription factor Nkx2-3 are either asplenic or develop a spleen of significantly reduced size with poorly organized white pulp. In this report, we analyze the effect of this mutation on B lymphocyte development and differentiation. Follicular dendritic cells in spleen, but not lymph node, of Nkx2-3(-/-) mice fail to express a developmental Ag (follicular dendrit...
The homeodomain factor Nkx2-5 is expressed in cardiac progenitor cells of the first and second heart fields, and in differentiating cardiomyocytes and conduction cells. NKX2-5 mutations cause congenital heart disease (CHD) and conduction disease (CD) in humans. Nkx2-5 acts as both a repressor and an activator, and one of its early roles is to repress, through a negative feedback loop, the expre...
The homeodomain factor Nkx2-5 is expressed in cardiac progenitor cells of the first and second heart fields, and in differentiating cardiomyocytes and conduction cells. NKX2-5 mutations cause congenital heart disease (CHD) and conduction disease (CD) in humans. Nkx2-5 acts as both a repressor and an activator, and one of its early roles is to repress, through a negative feedback loop, the expre...
Mexico shows a high birth prevalence of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD). PAX8 defects underlie only 1% these cases and NKX2-1 does not seem be involved. Here, we analyzed other TD-related genes in 128 non-related Mexican patients (females 77.3%; 6 months 16.6 years) with non-syndromic CH-TD diagnosis established by clinical evaluation, hormone serum profiling, scin...
The rearranged during transfection (RET) gene encodes a single-pass receptor whose proper expression and function are essential for the development of enteric nervous system (ENS). Mutations in RET regulatory regions are also associated with Hirschsprung’s disease (HSCR) (aganglionosis of the colon). We have previously showed that two polymorphisms in RET promoter are associated with the increa...
Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. The case of a term infant with mild primary congenital hypothyroidism and neonatal persistent respiratory failure with fatal outcome at 10 months of age despite continuous ventilatory su...
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