Nkx2-5 pathways and congenital heart disease: loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block
Article Abstract:
A study addressing the problem of human mutations in Nkx2-5 leading to progressive cardiomyopathy and conduction defects via unknown mechanisms, by generating mice with a ventricular muscle cell-restricted knockout of Nkx2-5 is presented. The results show that loss of ventricular muscle cell lineage specification into trabecular and conduction system myocytes is a new mechanistic pathway for cardiomyopathy and conduction defects in congenital heart disease.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2004
User Contributions:
Comment about this article or add new information about this topic:
Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome
Article Abstract:
Humans, detected with the Li-Fraumeni syndrome are known to carry inherited mutations in the p53 tumor suppressor gene and are susceptible to tumor development. Studies were conducted to know more about the mechanistic nature of the p53 missense mutations and results showed in vivo validation for the gain-of-function properties of some p53 missense mutations thus suggesting a mechanistic basis for these specific phenotypes.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2004
User Contributions:
Comment about this article or add new information about this topic:
Presenilins form ER [Ca.sup.2+] leak channels, a function disrupted by familial Alzheimer's disease-linked mutations
Article Abstract:
Mutations in presenilins 1 and 2 (PS1 and PS2) account for a large number of familial Alzheimer's disease (FAD) cases. It is demonstrated that presenilins function as passive endoplasmic reticulum [Ca.sup.2+] leak channels and that the FAD mutations of presenilins affect their ability to conduct [Ca.sup.2+] ions.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2006
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: P elements and P-M characteristics in natural populations of Drosophila melanogaster in the southernmost islands of Japan and in Taiwan
- Abstracts: The fertility effects of pericentric inversions in Drosophila melanogaster. A cytogenetic and genetic characterization of a group of closely linked second chromosome mutations that suppress position-effect variegation in Drosophila melanogaster
- Abstracts: Pathways of intracellular communication: tetrapyrroles and plastid-to-nucleus signaling. Checkpoint signaling: epigenetic events sound the DNA strand-breaks alarm to the ATM proein kinase
- Abstracts: RAPDs and allozymes exhibit similar levels of diversity and differentiation among populations and races of Douglas-fir
- Abstracts: Myosin II-dependent cortical movement is required for centrosome separation and positioning during mitotic spindle assembly