Gene expression in ectodermal dysplasia

Details Gene expression in ectodermal dysplasia Gene expression in ectodermal dysplasia

2006-02-07

2006-02-07

McGarry, Sean (Department: 1635)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S004000, C435S007100

Reexamination Certificate

active

06994961

ABSTRACT:
The invention provides methods and compositions for diagnosing and treating ectodermal disorders, particularly ectodermal dysplasia syndromes such as Clouston syndrome, which are associated with misexpression of a TAJ gene. Methods detect the presence of or predisposition to an ectodermal disorder by (a) detecting the presence of a TAJ gene or gene product in a cell; and (b) correlating the presence of the TAJ gene or gene product with a presence of or predisposition to an ectodermal disorder. Other methods modulate the functional expression of a TAJ gene or gene product in a cell comprising the step(s) of contacting a cell with an agent which specifically binds and modulates the functional expression of a TAJ gene or gene product, wherein (a) the cell is an ectodermal cell; or (b) the cell is a germ cell which gives rise to progeny ectodermal cells and detecting the functional expression of the TAJ gene or gene product in the progeny cells.

REFERENCES:
Eby et al, TAJ, a Novel Member of the Tumor Necrosis Factor Receptor Family, Activates the c-Jun N-terminal Kinase Pathway and Mediates Caspase-independent Cell Death, May 2000, The Journal of Biological Chemistry, vol. 275, No. 20, pp. 15336-13542.

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