-
1
-
-
9344250077
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
-
Kere J, Srivastava A K, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996: 13: 409-416.
-
(1996)
Nat Genet
, vol.13
, pp. 409-416
-
-
Kere, J.1
Srivastava, A.K.2
Montonen, O.3
-
2
-
-
12644310324
-
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
-
Srivastava A K, Pispa J, Hartung A J, et al. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A 1997: 94: 13069-13074.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 13069-13074
-
-
Srivastava, A.K.1
Pispa, J.2
Hartung, A.J.3
-
3
-
-
0030833393
-
Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
-
Fergusson B M, Brockdorff N, Formstone E, Nguyen T, Kronmiller J E, Zonana J. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain. Hum Mol Genet 1997: 6: 1589-1594.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1589-1594
-
-
Fergusson, B.M.1
Brockdorff, N.2
Formstone, E.3
Nguyen, T.4
Kronmiller, J.E.5
Zonana, J.6
-
4
-
-
0032852542
-
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cystoskeletal structures at lateral and apical sufaces of cells
-
Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cystoskeletal structures at lateral and apical sufaces of cells. Hum Mol Genet 1999: 8: 2079-2086.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2079-2086
-
-
Ezer, S.1
Bayes, M.2
Elomaa, O.3
Schlessinger, D.4
Kere, J.5
-
5
-
-
0032775933
-
Involvement of a novel Tnf receptor homologue in hair follicle induction
-
Headon D J, Overbeek P A. Involvement of a novel Tnf receptor homologue in hair follicle induction. Nat Genet 1999: 22: 370-374.
-
(1999)
Nat Genet
, vol.22
, pp. 370-374
-
-
Headon, D.J.1
Overbeek, P.A.2
-
6
-
-
0032811085
-
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
-
Monreal A W, Ferguson B M, Headon D J, Street S L, Overbeek P A, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999: 22: 366-369.
-
(1999)
Nat Genet
, vol.22
, pp. 366-369
-
-
Monreal, A.W.1
Ferguson, B.M.2
Headon, D.J.3
Street, S.L.4
Overbeek, P.A.5
Zonana, J.6
-
7
-
-
0030755074
-
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder
-
Munoz F, Lestringant G, Sybert V, et al. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 1997: 61: 94-100.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 94-100
-
-
Munoz, F.1
Lestringant, G.2
Sybert, V.3
-
8
-
-
0035924366
-
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
-
Headon D J, Emmal S A, Ferguson B M, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001: 414: 913-916.
-
(2001)
Nature
, vol.414
, pp. 913-916
-
-
Headon, D.J.1
Emmal, S.A.2
Ferguson, B.M.3
-
9
-
-
0035871196
-
Ectodysplasin is released by proteolytic shedding in binds to the EDAR protein
-
Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J. Ectodysplasin is released by proteolytic shedding in binds to the EDAR protein. Hum Mol Genet 2001: 10: 953-962.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 953-962
-
-
Elomaa, O.1
Pulkkinen, K.2
Hannelius, U.3
Mikkola, M.4
Saarialho-Kere, U.5
Kere, J.6
-
10
-
-
0035951783
-
The ectodermal dysplasia receptor activates the nuclear factor-κB, JNK, and cell death pathways and binds to ectodysplasin A
-
Kumar A, Eby M T, Sinha S, Jasmin A, Chaudhary P M. The ectodermal dysplasia receptor activates the nuclear factor-κB, JNK, and cell death pathways and binds to ectodysplasin A. J Biol Chem 2001: 276: 2668-2677.
-
(2001)
J Biol Chem
, vol.276
, pp. 2668-2677
-
-
Kumar, A.1
Eby, M.T.2
Sinha, S.3
Jasmin, A.4
Chaudhary, P.M.5
-
11
-
-
0031716740
-
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
-
Bayes M, Hartung A J, Ezer S, et al. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 1998: 7: 1661-1669.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1661-1669
-
-
Bayes, M.1
Hartung, A.J.2
Ezer, S.3
-
12
-
-
0032231350
-
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
-
[published erratum appears in Am J Hum Genet 1998: 63: 1253-1255]
-
Monreal A W, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 1998: 63: 380-389 [published erratum appears in Am J Hum Genet 1998: 63: 1253-1255].
-
(1998)
Am J Hum Genet
, vol.63
, pp. 380-389
-
-
Monreal, A.W.1
Zonana, J.2
Ferguson, B.3
-
13
-
-
0031980020
-
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications
-
Ferguson B M, Thomas N S T, Munoz F, Morgan D, Clarke A, Zonana J. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: Diagnostic implications. J Med Genet 1998: 35: 112-115.
-
(1998)
J Med Genet
, vol.35
, pp. 112-115
-
-
Ferguson, B.M.1
Thomas, N.S.T.2
Munoz, F.3
Morgan, D.4
Clarke, A.5
Zonana, J.6
-
14
-
-
0035320883
-
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia
-
Paakkonen K, Cambiaghi S, Novelli G, et al. The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 2001: 17: 349-353.
-
(2001)
Hum Mutat
, vol.17
, pp. 349-353
-
-
Paakkonen, K.1
Cambiaghi, S.2
Novelli, G.3
-
15
-
-
0031892339
-
A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia
-
Hertz J M, Hansen K N, Juncker I, Kjeldsen M, Gregersen N. A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. Clin Genet 1998: 53: 205-209.
-
(1998)
Clin Genet
, vol.53
, pp. 205-209
-
-
Hertz, J.M.1
Hansen, K.N.2
Juncker, I.3
Kjeldsen, M.4
Gregersen, N.5
-
16
-
-
0031605074
-
Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia
-
Kobielak K, Kobielak A, Limon J, Trzeciak Wh. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia. Acta Biochim Pol 1998: 45: 245-250.
-
(1998)
Acta Biochim Pol
, vol.45
, pp. 245-250
-
-
Kobielak, K.1
Kobielak, A.2
Limon, J.3
Trzeciak, Wh.4
-
17
-
-
0035341488
-
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia
-
Kobielak K, Kobielak A, Roszkiewicz J, Wierzba J, Limon J, Trzeciak Wh. Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. Am J Med Genet 2001: 100: 191-197.
-
(2001)
Am J Med Genet
, vol.100
, pp. 191-197
-
-
Kobielak, K.1
Kobielak, A.2
Roszkiewicz, J.3
Wierzba, J.4
Limon, J.5
Trzeciak, Wh.6
-
18
-
-
0033506530
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg)
-
Martinez F, Millan J M, Orellana C, Prieto F. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T>G (Leu55Arg). J Invest Dermatol 1999: 113: 285-286.
-
(1999)
J Invest Dermatol
, vol.113
, pp. 285-286
-
-
Martinez, F.1
Millan, J.M.2
Orellana, C.3
Prieto, F.4
-
19
-
-
0034981134
-
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
-
Vincent MC, Biancalana V, Ginisty D, Mandel J L, Calvas P. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001: 9: 355-363.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 355-363
-
-
Vincent, M.C.1
Biancalana, V.2
Ginisty, D.3
Mandel, J.L.4
Calvas, P.5
-
20
-
-
0035379554
-
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
-
Schneider P, Street S L, Gaide O, et al. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J Biol Chem 2001: 276: 18819-18827.
-
(2001)
J Biol Chem
, vol.276
, pp. 18819-18827
-
-
Schneider, P.1
Street, S.L.2
Gaide, O.3
-
21
-
-
0032457229
-
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
-
Yotsumoto S, Fukumaru S, Matsushita S, et al. A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. J Invest Dermatol 1998: 111: 1246-1247.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 1246-1247
-
-
Yotsumoto, S.1
Fukumaru, S.2
Matsushita, S.3
-
22
-
-
0033624559
-
A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia
-
Aoki N, Ito K, Tachibana T, Ito M. A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. J Invest Dermatol 2000: 115: 329-330.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 329-330
-
-
Aoki, N.1
Ito, K.2
Tachibana, T.3
Ito, M.4
-
23
-
-
0028127041
-
Ectodermal dysplasias: A clinical classification and a causal review
-
Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 1994: 53: 153-162.
-
(1994)
Am J Med Genet
, vol.53
, pp. 153-162
-
-
Pinheiro, M.1
Freire-Maia, N.2
-
24
-
-
0035912849
-
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
-
Chen Y, Molloy S S, Thomas L, et al. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. Proc Natl Acad Sci USA 2001: 98: 7218-7223.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7218-7223
-
-
Chen, Y.1
Molloy, S.S.2
Thomas, L.3
-
25
-
-
0030725756
-
Furin: A mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins
-
Nakayama K. Furin: A mammalian subtilisin/Kex2p-like endoprotease involved in processing of a wide variety of precursor proteins. Biochem J 1997: 327: 625-635.
-
(1997)
Biochem J
, vol.327
, pp. 625-635
-
-
Nakayama, K.1
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