Biomedical Engineering Reference
In-Depth Information
[21]
Zonana, J., Elder, M.E., Schneider, L.C.
et al., A novel X-linked disorder of
immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinen-
tia pigmenti and due to mutations in IKK-γ (NEMO),
Am. J. Hum. Genet.,
67,
1555, 2000.
[22]
Champlin, T.L. and Mallory, S.B., Hypohidrotic ectodermal dysplasia: a review,
J.
Ark. Med. Soc.,
86, 115, 1989.
[23]
Kere, J., Srivastava, A.K., Montonen, O.
et al., X-linked anhidrotic (hypohidrotic)
ectodermal dysplasia is caused by mutation in a novel transmembrane protein,
Nature
Genet.,
13, 409, 1996.
[24]
Headon, D.J. and Overbeek, P.A., Involvement of a novel TNF receptor homologue
in hair follicle induction,
Nature Genet.,
22, 370, 1999.
[25]
Monreal, A.W., Ferguson, B.M., Headon, D.J.
et al., Mutations in the human homo-
logue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal
dysplasia,
Nature Genet.,
22, 366, 1999.
[26]
Kumar, A., Eby, M.T., Sinha, S.
et al., The ectodermal dysplasia receptor activates
the NF-κB, JNK and cell death pathways and binds to ectodysplasin A,
J. Biol. Chem.,
276, 2668, 2001.
[27]
Laurikkala, J., Mikkola, M., Mustonen, T.
et al., TNF signaling via the ligand-receptor
pair ectodysplasin and edar controls the function of epithelial signaling centers and
is regulated by Wnt and activin during tooth organogenesis,
Dev. Biol.,
229, 443, 2001.
[28]
Tucker, A.S., Headon, D.J., Schneider, P.
et al., EDAR/EDA interactions regulate
enamel knot formation in tooth morphogenesis,
Dev.,
127, 4691, 2000.
[29]
Yan, M.H., Wang, L.C., Hymowitz, S.G.
et al., Two-amino acid molecular switch in
an epithelial morphogen that regulates binding to two distinct receptors,
Science,
290,
523, 2000.
[30]
Newton, K., French, D.M., Yan, M.
et al., Myodegeneration in EDA-A2 transgenic
mice is prevented by XEDAR deficiency,
Mol. Cell. Biol.,
24, 1608, 2004.
[31]
Headon, D.J., Emmal, S.A., Ferguson, B.M.
et al., Gene defect in ectodermal dys-
plasia implicates a death domain adapter in development,
Nature,
414, 913, 2001.
[32]
Yan, M., Zhang, Z., Brady, J.R.
et al., Identification of a novel death domain-
containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled
mice,
Curr. Biol.,
12, 409, 2002.
[33]
Döffinger, R., Smahi, A., Bessia, C.
et al., X-linked anhidrotic ectodermal dysplasia
with immunodeficiency is caused by impaired NF-κB signaling,
Nature Genet.,
27,
277, 2001.
[34]
Mansour, S., Woffendin, H., Mitton, S.
et al., Incontinentia pigmenti in a surviving
male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection,
Am. J. Med. Genet.,
99, 172, 2001.
[35]
Iotsova, V., Caamano, J., Loy, J.
et al., Osteopetrosis in mice lacking NF-kappaB1
and NF-kappaB2,
Nature Med.,
3, 1285, 1997.
[36]
Franzoso, G., Carlson, L., Xing, L.
et al., Requirement for NF-kappaB in osteoclast
and B-cell development,
Genes Dev.,
11, 3482, 1997.
[37]
Hsu, H., Lacey, D.L., Dunstan, C.R.
et al., Tumor necrosis factor receptor family
member RANK mediates osteoclast differentiation and activation induced by
osteoprotegerin ligand,
Proc. Natl. Acad. Sci. USA,
96, 3540, 1999.
[38]
Karkkainen, M.J., Ferrell, R.E., Lawrence, E.C.
et al., Missense mutations interfere
with VEGFR-3 signalling in primary lymphoedema,
Nature Genet.,
25, 153, 2000.
[39]
Orange, J.S., Levy, O., Brodeur, S.R.
et al., Human nuclear factor kappaB essential
modulator mutation can result in immunodeficiency without ectodermal dysplasia,
J.
Allergy Clin. Immunol.,
114, 650, 2004.
