A gene for inherited cutaneous venous anomalies ("Glomangiomas") localizes to chromosome 1p21-22
Article Abstract:
An inherited-cutaneous-venous-anomalies gene has been localized to chromosome 1p21-22. Venous malformations (VMs) are localized vascular morphogenesis defects and can be found in any organ system, but are more common in muscle and skin. Some families have dominant inheritance for VMs, which can be life threatening and painful. Those with glomus cells, known as glomangiomas, are inherited as an autosomal dominant trait in five studied families and are not linked to 9p21. Three positional candidates have been ruled out. Cutaneous venous anomalies are hypothesized to be the result of mutations in a novel gene that may regulate angiogenesis with the TIE-2 signaling pathway.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
User Contributions:
Comment about this article or add new information about this topic:
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2
Article Abstract:
The role of genetic mutations in vascular dysmorphogenesis was analyzed by the chromosome mapping of the TIE2 gene in insect cells. The phosphorylation activity of TIE2 was enhanced by mutations in the R849W polymorphism which is expressed in two disparate families with dominantly inherited mucocutaneous vascular malformations. The activation of the mutant TIE2 gene also increased the number of endothelial cells compared to smooth muscle cells during venous morphogenesis.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
User Contributions:
Comment about this article or add new information about this topic:
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Article Abstract:
Research has been conducted on the low peak mass that presents significant risk factor for osteoporosis. The effect of the LRP5 encoding the low-density lipoprotein receptor-related protein 5 on the bone mass accrual during growth has been investigated and the results are reported.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Genetic control of the rate of transmission of rye B chromosomes. One gene determines maize B chromosome accumulation by preferential fertilization; another gene(s) determines their meiotic loss
- Abstracts: The evolutionary genetics of ageing and longevity. Cellular basis and developmental timing in a size cline of Drosophila melanogaster
- Abstracts: Generic signals and specific outcomes: signaling through Ca2+, calcineurin, and NF-AT. Signals transduced by calcium(sup)2+/calcineurin and NFATc3/c4 pattern the developing vasculature
- Abstracts: Nuclear receptor repression mediated by a complex containing SMRT, mSin3A, and histone deacetylase. Regulation of CLOCK and MOP4 by nuclear hormone receptors in the vasculature: a humoral mechanism to reset a peripheral clock
- Abstracts: Genes and mechanisms related to RNA interference regulate expression of the small temporal RNAs that control C. elegans developmental timing