A molecular and genetic analysis of renalglomerular capillary development.

The adult kidney is highly vascular and receives about 20% of the cardiac output, yet the mode of development of the glomerular capillaries is not fully understood. At the inception of nephrogenesis the condensed metanephric mesenchyme contains no patent capillaries. However, in this current study we detected vascular endothelial growth factor (VEGF) mRNA and protein in uninduced mouse E11 metanephric mesenchyme and in cell lines from this tissue.

TGF-β1 Inhibits Growth and Branching Morphogenesis In Embryonic Mouse Submandibular and Sublingual Glands in Vitro: (Salivary glands/extracellular matrix/epithelium/mesenchyme/organ culture).

Members of the TGF-β superfamily of polypeptides are key regulators in developmental processes. Several studies have shown that expression of TGF-β mRNA and protein are developmentally regulated and that both are prominently expressed in tissues undergoing epithelial-mesenchymal interactions such as branching morphogenesis. It has been shown that TGF-β1 protein is present in E 14 mouse submandibular glands at a time when branching is already establihsed.

Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity.

beta-Hexosaminidase (Hex; EC 3.2.1.

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.

In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles. It was found more frequently in subjects of Irish, Scottish, and Welsh origin compared with English origin (63% and 31% respectively). We have now tested, in a blind study, 26 American TSD carriers and 28 non-carriers who have British ancestry for the intron 9 splice site mutation.