-
2
-
-
9344250077
-
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
-
Kere, J., Srivastava, A.K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Ellson, Y.C., Ezer, S., Saarialho-Kere, U., de la Chapelle, A. and Schlessinger, D. (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet., 13, 409-416.
-
(1996)
Nature Genet.
, vol.13
, pp. 409-416
-
-
Kere, J.1
Srivastava, A.K.2
Montonen, O.3
Zonana, J.4
Thomas, N.5
Ferguson, B.6
Munoz, F.7
Morgan, D.8
Clarke, A.9
Baybayan, P.10
Ellson, Y.C.11
Ezer, S.12
Saarialho-Kere, U.13
De La Chapelle, A.14
Schlessinger, D.15
-
3
-
-
0030882307
-
Anhidrotic Ectodermal Dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding
-
Ezer, S., Schlessinger, D., Srivastava, A. and Kere, J. (1997) Anhidrotic Ectodermal Dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. Hum. Mol. Genet., 6, 1581-1587.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1581-1587
-
-
Ezer, S.1
Schlessinger, D.2
Srivastava, A.3
Kere, J.4
-
4
-
-
14444283147
-
The gene defective in anhidrotic ectodermal dysplasia (EDA) is expressed in the developing epithelium, neuroectoderm, thymus and bone
-
Montonen, O., Ezer, S., Saarialho-Kere, U., Herva, R., Karjalainen-Lindsberg, M.L., Kaitila, I., Schlessinger, D., Srivastava, A., Thesleff, I. and Kere, J. (1998) The gene defective in anhidrotic ectodermal dysplasia (EDA) is expressed in the developing epithelium, neuroectoderm, thymus and bone. J. Histochem. Cytochem., 46, 281-290.
-
(1998)
J. Histochem. Cytochem.
, vol.46
, pp. 281-290
-
-
Montonen, O.1
Ezer, S.2
Saarialho-Kere, U.3
Herva, R.4
Karjalainen-Lindsberg, M.L.5
Kaitila, I.6
Schlessinger, D.7
Srivastava, A.8
Thesleff, I.9
Kere, J.10
-
5
-
-
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. and Zonana, J. (1998) Scarcity of mutations detected in families with X-linked hypohidrotic ectodermal dysplasia: diagnostic implications. J. Med. Genet., 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
-
6
-
-
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., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M.L., Ko, M.S.H., Thesleff, I., Kere, J. and Schlessinger, D. (1997) 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. USA, 94, 13069-13074.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 13069-13074
-
-
Srivastava, A.K.1
Pispa, J.2
Hartung, A.J.3
Du, Y.4
Ezer, S.5
Jenks, T.6
Shimada, T.7
Pekkanen, M.8
Mikkola, M.L.9
Ko, M.S.H.10
Thesleff, I.11
Kere, J.12
Schlessinger, D.13
-
7
-
-
0030833393
-
Cloning of Tabby, the murine homolog of the human EDA gene, evidence for a membrane-associated protein with a short collagenous domain
-
Ferguson, B.M., Brockdorff, N., Formstone, E., Ngyuen, T., Kronmiller, J.E. and Zonana, J. (1997) 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., 6, 1589-1594.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1589-1594
-
-
Ferguson, B.M.1
Brockdorff, N.2
Formstone, E.3
Ngyuen, T.4
Kronmiller, J.E.5
Zonana, J.6
-
8
-
-
0028927709
-
Cloning of a novel bacteria-binding receptor structurally related to scavenger receptors and expressed in a subset of macrophages
-
Elomaa, O., Kangas, M., Sahlberg, C., Tuukkanen, J., Sormunen, R., Liakka, A., Thesleff, I., Kraal, G. and Tryggvason, K. (1995) Cloning of a novel bacteria-binding receptor structurally related to scavenger receptors and expressed in a subset of macrophages. Cell, 80, 603-609.
-
(1995)
Cell
, vol.80
, pp. 603-609
-
-
Elomaa, O.1
Kangas, M.2
Sahlberg, C.3
Tuukkanen, J.4
Sormunen, R.5
Liakka, A.6
Thesleff, I.7
Kraal, G.8
Tryggvason, K.9
-
9
-
-
0029158843
-
Two new collagen subgroups: Membrane-associated collagens and types XV and XVIII
-
Pihlajaniemi, T. and Rehn, M. (1995) Two new collagen subgroups: membrane-associated collagens and types XV and XVIII. Prog. Nucleic Acid Res. Mol. Biol, 50, 225-262.
-
(1995)
Prog. Nucleic Acid Res. Mol. Biol
, vol.50
, pp. 225-262
-
-
Pihlajaniemi, T.1
Rehn, M.2
-
10
-
-
0029655883
-
Fine mapping of the EDA gene: A translocation breakpoint is associated with a CpG island that is transcribed
-
Srivastava, A., Montonen, O., Saarialho-Kere, U., Chen, E., Baybayan, P., Pispa, J., Limon, J., Schlessinger, D. and Kere, J. (1996) Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. Am. J. Hum. Genet., 58, 126-132.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 126-132
-
-
Srivastava, A.1
Montonen, O.2
Saarialho-Kere, U.3
Chen, E.4
Baybayan, P.5
Pispa, J.6
Limon, J.7
Schlessinger, D.8
Kere, J.9
-
11
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
-
(1987)
Nucleic Acids Res.
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
12
-
-
0023824450
-
On/off regulation of gene expression at the level of splicing
-
Bingham, P.M., Chou, T.B., Mims, I. and Zachar, Z. (1988) On/off regulation of gene expression at the level of splicing. Trends Genet., 4, 134-138.
-
(1988)
Trends Genet.
, vol.4
, pp. 134-138
-
-
Bingham, P.M.1
Chou, T.B.2
Mims, I.3
Zachar, Z.4
-
13
-
-
0029890441
-
Biochemistry and regulation of pre-mRNA splicing
-
Adams, M.D., Rudner, D.Z and Rio, D.C. (1996) Biochemistry and regulation of pre-mRNA splicing. Curr. Opin. Cell Biol., 8, 331-339.
-
(1996)
Curr. Opin. Cell Biol.
, vol.8
, pp. 331-339
-
-
Adams, M.D.1
Rudner, D.Z.2
Rio, D.C.3
-
14
-
-
0027332279
-
Alternate exon usage is a commonly used mechanism for increasing coding diversity within genes coding for extracellular matrix proteins
-
Boyd, C.D., Pierce, R.A., Schwarzbauer, J.E., Doege, K. and Sandell, L.J. (1993) Alternate exon usage is a commonly used mechanism for increasing coding diversity within genes coding for extracellular matrix proteins. Matrix, 13, 457-469.
-
(1993)
Matrix
, vol.13
, pp. 457-469
-
-
Boyd, C.D.1
Pierce, R.A.2
Schwarzbauer, J.E.3
Doege, K.4
Sandell, L.J.5
-
15
-
-
0030955414
-
Mutations in fibrillar collagens (types I, II, III and XI), fibril-associated collagen (type IX) and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage and blood vessels
-
Kuivaniemi, H., Tromp, G. and Prockop, D.J. (1997) Mutations in fibrillar collagens (types I, II, III and XI), fibril-associated collagen (type IX) and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage and blood vessels. Hum. Mutat., 9, 300-315.
-
(1997)
Hum. Mutat.
, vol.9
, pp. 300-315
-
-
Kuivaniemi, H.1
Tromp, G.2
Prockop, D.J.3
-
16
-
-
0023944520
-
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta
-
Willing, M.C., Cohn, D.H., Starman, B., Holbrook, K.A., Greenberg, C.R. and Byers, PH. (1988) Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J. Biol. Chem., 263, 8398-8404.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 8398-8404
-
-
Willing, M.C.1
Cohn, D.H.2
Starman, B.3
Holbrook, K.A.4
Greenberg, C.R.5
Byers, P.H.6
-
17
-
-
7344250767
-
Expression of the anhidrotic ectodermal dysplasia gene in skin is diminished in cancer and correlates with E-cadherin production
-
in press
-
Montonen, O., Ezer, S., Laurikkala, J., Karjalainen-Lindsberg, M.L., Thesleff, I., Kere, J. and Saarialho-Kere, U. (1998) Expression of the anhidrotic ectodermal dysplasia gene in skin is diminished in cancer and correlates with E-cadherin production. Exp. Dermatol., in press.
-
(1998)
Exp. Dermatol.
-
-
Montonen, O.1
Ezer, S.2
Laurikkala, J.3
Karjalainen-Lindsberg, M.L.4
Thesleff, I.5
Kere, J.6
Saarialho-Kere, U.7
-
18
-
-
0021760092
-
A comprehensive set of sequence analysis programs for the VAX
-
Devereux, J., Haeberli, P. and Smithies, O. (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acid Res., 12, 387-395.
-
(1984)
Nucleic Acid Res.
, vol.12
, pp. 387-395
-
-
Devereux, J.1
Haeberli, P.2
Smithies, O.3
-
19
-
-
0026440240
-
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts
-
Kere, J., Nagaraja, R., Mumm, S., Ciccodicola, A., D'Urso, M. and Schlessinger, D. (1992) Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics, 14, 241-248.
-
(1992)
Genomics
, vol.14
, pp. 241-248
-
-
Kere, J.1
Nagaraja, R.2
Mumm, S.3
Ciccodicola, A.4
D'Urso, M.5
Schlessinger, D.6
|