-
1
-
-
0021807826
-
Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): Autosomal recessive inheritance
-
Ahonen, P. Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin. Genet. 27, 535-542 (1985).
-
(1985)
Clin. Genet.
, vol.27
, pp. 535-542
-
-
Ahonen, P.1
-
2
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen, P., Myllarniemi, S., Sipila, I. & Perheentupa, J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N. Engl. J. Med. 322, 1829-1836 (1990).
-
(1990)
N. Engl. J. Med.
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Myllarniemi, S.2
Sipila, I.3
Perheentupa, J.4
-
3
-
-
0028064998
-
An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
-
Aaltonen, J., Björses, P., Sandkuijl, L., Perheentupa, J. & Peltonen, L. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 8, 83-87 (1994).
-
(1994)
Nature Genet.
, vol.8
, pp. 83-87
-
-
Aaltonen, J.1
Björses, P.2
Sandkuijl, L.3
Perheentupa, J.4
Peltonen, L.5
-
4
-
-
0026481974
-
Polyglandular autoimmune syndrome type I among Iranian Jews
-
Zlotogora, J. & Shapiro, M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J. Med. Genet. 29, 824-826 (1992).
-
(1992)
J. Med. Genet.
, vol.29
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
-
5
-
-
84995870568
-
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17 and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease
-
Uibo, R. et al. Autoantibodies to cytochrome P450 enzymes P450scc, P450c17 and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J. Clin. Endocrinol. Metab. 78, 323-328 (1994).
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.78
, pp. 323-328
-
-
Uibo, R.1
-
6
-
-
0031033052
-
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
-
Husebye, E.S. et al. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J. Clin. Endocrinol. Metab. 82, 147-150 (1997).
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 147-150
-
-
Husebye, E.S.1
-
7
-
-
0030919380
-
Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1
-
Clemente, M.G. et al. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J. Clin. Endocrinol. Metab. 82, 1353-1361 (1997).
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 1353-1361
-
-
Clemente, M.G.1
-
8
-
-
0029836686
-
Genetic homogeneity of autoimmune polyglandular disease type I
-
Björses, P. et al. Genetic homogeneity of autoimmune polyglandular disease type I. Am. J. Hum. Genet. 59, 879-886 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 879-886
-
-
Björses, P.1
-
9
-
-
0031588567
-
Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3
-
Kudoh, J. et al. Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3. DNA Res. 4, 45-52 (1997).
-
(1997)
DNA Res.
, vol.4
, pp. 45-52
-
-
Kudoh, J.1
-
10
-
-
0030583302
-
Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3
-
Nagamine, K. et al. Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3. Biochem. Biophys. Res. Commun. 225, 608-616 (1996).
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.225
, pp. 608-616
-
-
Nagamine, K.1
-
11
-
-
0031570671
-
Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21
-
Nagamine, K. et al. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. Genomics 42, 528-531 (1997).
-
(1997)
Genomics
, vol.42
, pp. 528-531
-
-
Nagamine, K.1
-
12
-
-
0031560924
-
Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3
-
Nagamine, K. et al. Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. Biochem. Biophys. Res. Commun. 235, 185-190 (1997).
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.235
, pp. 185-190
-
-
Nagamine, K.1
-
13
-
-
0030586239
-
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3
-
Lalioti, M.D. et al. Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Genomics 35, 321-327 (1996).
-
(1996)
Genomics
, vol.35
, pp. 321-327
-
-
Lalioti, M.D.1
-
14
-
-
0030983731
-
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein which maps to chromsome 21q22.3
-
Scott, H.S., Chen, H., Rossier, C., Lalioti, M.D. & Antonarakis, S.E. Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein which maps to chromsome 21q22.3. Hum. Genet. 99, 616-623 (1997).
-
(1997)
Hum. Genet.
, vol.99
, pp. 616-623
-
-
Scott, H.S.1
Chen, H.2
Rossier, C.3
Lalioti, M.D.4
Antonarakis, S.E.5
-
15
-
-
0031915061
-
Characterization of a novel gene, C21orf2, in human chromosome 21 q22.3, and its exclusion as the APECED gene by mutation analysis
-
in the press
-
Scott, H.S. et al. Characterization of a novel gene, C21orf2, in human chromosome 21 q22.3, and its exclusion as the APECED gene by mutation analysis. Genomics (in the press).
-
Genomics
-
-
Scott, H.S.1
-
16
-
-
0028861418
-
The PHD finger: Implications for chromatin-mediated transcriptional regulation
-
Aasland, R., Gibson, T.J. & Stewart, A.F. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem. Sci. 20, 56-59 (1995).
-
(1995)
Trends Biochem. Sci.
, vol.20
, pp. 56-59
-
-
Aasland, R.1
Gibson, T.J.2
Stewart, A.F.3
-
17
-
-
0026351408
-
Locating protein-coding regions inhuman DNA sequences by a multiple sensor-neural network approach
-
Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions inhuman DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA 88, 11261-11265 (1991).
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
18
-
-
0031586003
-
Prediction of complete gene structures in human genomic DNA
-
Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
-
(1997)
J. Mol. Biol.
, vol.268
, pp. 78-94
-
-
Burge, C.1
Karlin, S.2
-
19
-
-
0029738953
-
Cloning of 559 potential exons of gene of human chromosome 21 by exon trapping
-
Chen, H. et al. Cloning of 559 potential exons of gene of human chromosome 21 by exon trapping. Genome Res. 6, 747-760 (1996).
-
(1996)
Genome Res.
, vol.6
, pp. 747-760
-
-
Chen, H.1
-
20
-
-
0021770224
-
Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs
-
Kozak, M. Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res. 12, 857-872 (1984).
-
(1984)
Nucleic Acids Res.
, vol.12
, pp. 857-872
-
-
Kozak, M.1
-
21
-
-
0030986236
-
A signature motif in transcriptional co-activators mediates binding to nuclear receptors
-
Heery, D.M., Kalkhoven, E., Hoare, S. & Parker N.G. A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 387, 733-736 (1997).
-
(1997)
Nature
, vol.387
, pp. 733-736
-
-
Heery, D.M.1
Kalkhoven, E.2
Hoare, S.3
Parker, N.G.4
-
22
-
-
0028788212
-
The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation
-
Seeig, H.P. et al. The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. Arthritis Rheum. 38, 1389-1399 (1995).
-
(1995)
Arthritis Rheum.
, vol.38
, pp. 1389-1399
-
-
Seeig, H.P.1
-
23
-
-
0028787425
-
Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen
-
Ge, Q., Nilasena, D.S., O'Brien, C.A., Frank, M.B. & Targoff, I.N. Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen. J. Clin. Invest. 96, 1730-1737 (1995).
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 1730-1737
-
-
Ge, Q.1
Nilasena, D.S.2
O'Brien, C.A.3
Frank, M.B.4
Targoff, I.N.5
-
24
-
-
0038853965
-
Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIFI
-
Thenot, S., Henriquet, C., Rochefort. H. and Cavailles, V. Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIFI. J. Biol. Chem. 272, 12062-12068 (1997).
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 12062-12068
-
-
Thenot, S.1
Henriquet, C.2
Rochefort, H.3
Cavailles, V.4
-
25
-
-
0029831827
-
Identification and characterization of a leukocyte-specific component of the nuclear body
-
Bloch, D.B., de la Monte, S.M.. Guigaouri, P., Filippov, A. & Bloch, K.D. Identification and characterization of a leukocyte-specific component of the nuclear body. J. Biol. Chem. 271, 29198-29204 (1996).
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 29198-29204
-
-
Bloch, D.B.1
De La Monte, S.M.2
Guigaouri, P.3
Filippov, A.4
Bloch, K.D.5
-
26
-
-
0029845262
-
LYSP100-associated nuclear domains (LANDs): Description of a new class of subnuclear structures and their relationship to PML nuclear bodies
-
Dent, A.L. et al. LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies. Blood 88, 1423-1426 (1996).
-
(1996)
Blood
, vol.88
, pp. 1423-1426
-
-
Dent, A.L.1
-
27
-
-
0029130257
-
The t(10;11) translocation in acute myeloid leukemia (M5) 'consistently fuses the leucine zipper motif of AF10 onto the HRX gene
-
Chaplin, T. et al. The t(10;11) translocation in acute myeloid leukemia (M5) 'consistently fuses the leucine zipper motif of AF10 onto the HRX gene. Blood 86, 2073-2076 (1995).
-
(1995)
Blood
, vol.86
, pp. 2073-2076
-
-
Chaplin, T.1
-
28
-
-
0028151819
-
Negative selection of lymphocytes
-
Nossal, G.J.V. Negative selection of lymphocytes. Cell 76, 229-239 (1994).
-
(1994)
Cell
, vol.76
, pp. 229-239
-
-
Nossal, G.J.V.1
-
29
-
-
0030903287
-
One-megabase sequence analysis of the human immunoglobultn X gene locus
-
Kawasaki, K. et al. One-megabase sequence analysis of the human immunoglobultn X gene locus. Genome Res. 7, 250-261 (1997).
-
(1997)
Genome Res.
, vol.7
, pp. 250-261
-
-
Kawasaki, K.1
|