-
1
-
-
0028246851
-
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composition retroposon, and breakpoint of gene duplication
-
Shen L., Wu L.C., Sanlioglu S., Chen R., Mendoza A.R., Dangel A.W., Carroll M.C., Zipf W.B., and Yu C.Y. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composition retroposon, and breakpoint of gene duplication. J. Biol. Chem. 269 (1994) 8466-8476
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 8466-8476
-
-
Shen, L.1
Wu, L.C.2
Sanlioglu, S.3
Chen, R.4
Mendoza, A.R.5
Dangel, A.W.6
Carroll, M.C.7
Zipf, W.B.8
Yu, C.Y.9
-
2
-
-
0026638378
-
Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus
-
Gitelman S.E., Bristow J., and Miller W.L. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol. Cell Biol. 12 (1992) 2124-2134
-
(1992)
Mol. Cell Biol.
, vol.12
, pp. 2124-2134
-
-
Gitelman, S.E.1
Bristow, J.2
Miller, W.L.3
-
3
-
-
0027231385
-
Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
-
Bristow J., Tee M.K., Gitelman S.E., Mellon S.H., and Miller W.L. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J. Cell Biol. 122 (1993) 265-278
-
(1993)
J. Cell Biol.
, vol.122
, pp. 265-278
-
-
Bristow, J.1
Tee, M.K.2
Gitelman, S.E.3
Mellon, S.H.4
Miller, W.L.5
-
4
-
-
0034686608
-
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on major histocompatibility complex-associated disease
-
Blanchong C.A., Zhou B., Rupert K.L., Chung E.K., Jones K.N., Sotos J.F., Zipf W.B., Rennebohm R.M., and Yu C.Y. Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on major histocompatibility complex-associated disease. J. Exp. Med. 191 (2000) 2183-2196
-
(2000)
J. Exp. Med.
, vol.191
, pp. 2183-2196
-
-
Blanchong, C.A.1
Zhou, B.2
Rupert, K.L.3
Chung, E.K.4
Jones, K.N.5
Sotos, J.F.6
Zipf, W.B.7
Rennebohm, R.M.8
Yu, C.Y.9
-
5
-
-
0026021215
-
The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism, and linkage to the 21-hydroxylase genes
-
Yu C.Y. The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism, and linkage to the 21-hydroxylase genes. J. Immunol. 146 (1991) 1057-1066
-
(1991)
J. Immunol.
, vol.146
, pp. 1057-1066
-
-
Yu, C.Y.1
-
6
-
-
0036799145
-
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB-TNXA hybrids in apparent large-scale gene conversions
-
Koppens P.F.J., Hoogenboezem T., and Degenhart H.J. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB-TNXA hybrids in apparent large-scale gene conversions. Hum. Mol. Genet. 11 (2002) 2581-2590
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2581-2590
-
-
Koppens, P.F.J.1
Hoogenboezem, T.2
Degenhart, H.J.3
-
7
-
-
33748443231
-
Identification of the size and antigenic determinants of the C4 gene by a PCR-based amplification method
-
Lee H.H., Chang S.F., Tseng Y.T., and Lee Y.J. Identification of the size and antigenic determinants of the C4 gene by a PCR-based amplification method. Anal. Biochem. 357 (2006) 122-127
-
(2006)
Anal. Biochem.
, vol.357
, pp. 122-127
-
-
Lee, H.H.1
Chang, S.F.2
Tseng, Y.T.3
Lee, Y.J.4
-
8
-
-
11444269014
-
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module
-
Lee H.H. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module. Mol. Genet. Metab. 84 (2005) 4-8
-
(2005)
Mol. Genet. Metab.
, vol.84
, pp. 4-8
-
-
Lee, H.H.1
-
9
-
-
0035022439
-
CYP21 mutations and congenital adrenal hyperplasia
-
Lee H.H. CYP21 mutations and congenital adrenal hyperplasia. Clin. Genet. 59 (2001) 293-301
-
(2001)
Clin. Genet.
, vol.59
, pp. 293-301
-
-
Lee, H.H.1
-
10
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White P.C., and Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21 (2000) 245-291
-
(2000)
Endocr. Rev.
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
11
-
-
0030843025
-
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
-
Burch G.H., Gong Y., Liu W., Dettman R.W., Curry C.J., Smith L., Miller W.L., and Bristow J. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat. Genet. 17 (1997) 104-108
-
(1997)
Nat. Genet.
, vol.17
, pp. 104-108
-
-
Burch, G.H.1
Gong, Y.2
Liu, W.3
Dettman, R.W.4
Curry, C.J.5
Smith, L.6
Miller, W.L.7
Bristow, J.8
-
12
-
-
0035909658
-
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency
-
Schalkwijk J., Zweers M.C., Steijlen P.M., Dean W.B., Taylor G., van Vlijmen I.M., Van Haren B., Miller W.L., and Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. Med. 345 (2001) 1167-1175
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 1167-1175
-
-
Schalkwijk, J.1
Zweers, M.C.2
Steijlen, P.M.3
Dean, W.B.4
Taylor, G.5
van Vlijmen, I.M.6
Van Haren, B.7
Miller, W.L.8
Bristow, J.9
-
13
-
-
68349098926
-
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
-
Concolino P., Mello E., Minucci A., Giardina E., Zuppi C., Toscano V., and Capoluongo E. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form. BMC Med. Genet. 10 (2009) 72
-
(2009)
BMC Med. Genet.
, vol.10
, pp. 72
-
-
Concolino, P.1
Mello, E.2
Minucci, A.3
Giardina, E.4
Zuppi, C.5
Toscano, V.6
Capoluongo, E.7
-
14
-
-
40749108502
-
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
-
Lee H.H., Lee Y.J., Wang Y.M., Chao H.T., Niu D.M., Chao M.C., Tsai F.J., Lo F.S., and Lin S.J. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. Mol. Genet. Metab. 93 (2008) 450-457
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 450-457
-
-
Lee, H.H.1
Lee, Y.J.2
Wang, Y.M.3
Chao, H.T.4
Niu, D.M.5
Chao, M.C.6
Tsai, F.J.7
Lo, F.S.8
Lin, S.J.9
-
15
-
-
0038579167
-
Mutation of IVS2-12 A/C->G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency
-
Lee H.H., Chang S.F., Tsai F.J., Tsai L.P., and Lin C.Y. Mutation of IVS2-12 A/C->G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 88 (2003) 2726-2729
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 2726-2729
-
-
Lee, H.H.1
Chang, S.F.2
Tsai, F.J.3
Tsai, L.P.4
Lin, C.Y.5
-
16
-
-
2642535143
-
Use of PCR-based amplification analysis as a substitute for the Southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia
-
Lee H.H., Lee Y.J., Chan P., and Lin C.Y. Use of PCR-based amplification analysis as a substitute for the Southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia. Clin. Chem. 50 (2004) 1074-1076
-
(2004)
Clin. Chem.
, vol.50
, pp. 1074-1076
-
-
Lee, H.H.1
Lee, Y.J.2
Chan, P.3
Lin, C.Y.4
-
17
-
-
11844263256
-
Diversity of the CYP21P-like gene in CYP21 deficiency
-
Lee H.H. Diversity of the CYP21P-like gene in CYP21 deficiency. DNA Cell Biol. 24 (2005) 1-9
-
(2005)
DNA Cell Biol.
, vol.24
, pp. 1-9
-
-
Lee, H.H.1
-
18
-
-
33746295401
-
Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P
-
Lee H.H., Tsai F.J., Lee Y.J., and Yang Y.C. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P. Mol. Genet. Metab. 88 (2006) 372-377
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 372-377
-
-
Lee, H.H.1
Tsai, F.J.2
Lee, Y.J.3
Yang, Y.C.4
-
19
-
-
0023749845
-
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
-
White P.C., Vitek A., Dupont B., and New M.I. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc. Natl. Acad. Sci. USA 85 (1988) 4436-4440
-
(1988)
Proc. Natl. Acad. Sci. USA
, vol.85
, pp. 4436-4440
-
-
White, P.C.1
Vitek, A.2
Dupont, B.3
New, M.I.4
-
20
-
-
0024580639
-
Rearrangements and point mutations of P450c21 gene are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia
-
Morel Y., Andre J., Uring-Lambert B., Hauptmann G., Betuel H., Tossi M., Forest M.G., David M., Bertrand J., and Miller W.L. Rearrangements and point mutations of P450c21 gene are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J. Clin. Invest. 83 (1989) 527-536
-
(1989)
J. Clin. Invest.
, vol.83
, pp. 527-536
-
-
Morel, Y.1
Andre, J.2
Uring-Lambert, B.3
Hauptmann, G.4
Betuel, H.5
Tossi, M.6
Forest, M.G.7
David, M.8
Bertrand, J.9
Miller, W.L.10
-
21
-
-
0025935967
-
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Harris H., and Hirschhorn K. (Eds), Plenum, New York
-
Morel Y., and Miller W.L. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Harris H., and Hirschhorn K. (Eds). Advances in Human Genetics vol. 20 (1991), Plenum, New York 1-68
-
(1991)
Advances in Human Genetics
, vol.20
, pp. 1-68
-
-
Morel, Y.1
Miller, W.L.2
-
22
-
-
0034486847
-
How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency
-
L'Allemand D., Tardy V., Gruters A., Schnabel D., Krude H., and Morel Y. How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 85 (2000) 4562-4567
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 4562-4567
-
-
L'Allemand, D.1
Tardy, V.2
Gruters, A.3
Schnabel, D.4
Krude, H.5
Morel, Y.6
-
23
-
-
1842665123
-
PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module
-
Lee H.H., Lee Y.J., and Lin C.Y. PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module. Genomics 83 (2004) 944-950
-
(2004)
Genomics
, vol.83
, pp. 944-950
-
-
Lee, H.H.1
Lee, Y.J.2
Lin, C.Y.3
-
24
-
-
0029979629
-
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia
-
Lee H.H., Chao H.T., Ng H.T., and Choo K.B. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia. J. Med. Genet. 33 (1996) 371-375
-
(1996)
J. Med. Genet.
, vol.33
, pp. 371-375
-
-
Lee, H.H.1
Chao, H.T.2
Ng, H.T.3
Choo, K.B.4
-
25
-
-
0024742542
-
Two distinct areas of unequal crossing over within the steroid 21-hydroxylase genes produce absence of CYP21B
-
Donohoue P.A., Jospe N., Migeon C.J., and Van Dop C. Two distinct areas of unequal crossing over within the steroid 21-hydroxylase genes produce absence of CYP21B. Genomics 5 (1989) 397-406
-
(1989)
Genomics
, vol.5
, pp. 397-406
-
-
Donohoue, P.A.1
Jospe, N.2
Migeon, C.J.3
Van Dop, C.4
-
26
-
-
0042884459
-
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations
-
Stikkelbroeck N.M.M.L., Hoefsloot L.H., de Wijs I.J., Otten B.J., Hermus A.R.M.M., and Sistermans E.A. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. J. Clin. Endocrinol. Metab. 88 (2003) 3852-3859
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 3852-3859
-
-
Stikkelbroeck, N.M.M.L.1
Hoefsloot, L.H.2
de Wijs, I.J.3
Otten, B.J.4
Hermus, A.R.M.M.5
Sistermans, E.A.6
-
27
-
-
0036126404
-
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients
-
Dain L.B., Buzzalino N.D., Oneto A., Belli S., Stivel M., Pasqualini T., Minutolo C., Charreau E.H., and Alba L.G. Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients. Clin. Endocrinol. 56 (2002) 239-245
-
(2002)
Clin. Endocrinol.
, vol.56
, pp. 239-245
-
-
Dain, L.B.1
Buzzalino, N.D.2
Oneto, A.3
Belli, S.4
Stivel, M.5
Pasqualini, T.6
Minutolo, C.7
Charreau, E.H.8
Alba, L.G.9
-
28
-
-
0036075210
-
Genetic analysis of Japanese patients with steroid 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21
-
Koyama S., Toyoura T., Saisho S., Shmozawa K., and Yata J. Genetic analysis of Japanese patients with steroid 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21. J. Clin. Endocrinol. Metab. 87 (2002) 2668-2673
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 2668-2673
-
-
Koyama, S.1
Toyoura, T.2
Saisho, S.3
Shmozawa, K.4
Yata, J.5
-
29
-
-
0842269752
-
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation
-
Kharrat M., Tardy V., M'rad R., Maazoul F., Jemaa L.B., Refaï M., Morel Y., and Chaabouni H. Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. J. Clin. Endocrinol. Metab. 89 (2004) 368-374
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 368-374
-
-
Kharrat, M.1
Tardy, V.2
M'rad, R.3
Maazoul, F.4
Jemaa, L.B.5
Refaï, M.6
Morel, Y.7
Chaabouni, H.8
-
30
-
-
18744390309
-
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency)
-
Keen-Kim D., Redman J.B., Alanes R.U., Eachus M.M., Wilson R.C., New M.I., Nakamoto J.M., and Fenwick R.G. Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J. Mol. Diagn. 7 (2005) 236-246
-
(2005)
J. Mol. Diagn.
, vol.7
, pp. 236-246
-
-
Keen-Kim, D.1
Redman, J.B.2
Alanes, R.U.3
Eachus, M.M.4
Wilson, R.C.5
New, M.I.6
Nakamoto, J.M.7
Fenwick, R.G.8
-
31
-
-
33644952070
-
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations, and a founder effect
-
Loidi L., Quinteiro C., Parajes S., Barreirot J., Leston D.G., Cabezas-Agricola J.M., Sueiro A.M., Araujo-Vilar D., Catro-Feijoo L., Costas J., Pombo M., and Dominguez F. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations, and a founder effect. Clin. Endocrinol. 64 (2006) 330-336
-
(2006)
Clin. Endocrinol.
, vol.64
, pp. 330-336
-
-
Loidi, L.1
Quinteiro, C.2
Parajes, S.3
Barreirot, J.4
Leston, D.G.5
Cabezas-Agricola, J.M.6
Sueiro, A.M.7
Araujo-Vilar, D.8
Catro-Feijoo, L.9
Costas, J.10
Pombo, M.11
Dominguez, F.12
-
32
-
-
0026615212
-
Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B27, DR7 haplotype
-
Chu X., Braun-Heimer L., Rittner C., and Schneider P.M. Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B27, DR7 haplotype. Exp. Clin. Immunogenet. 9 (1992) 80-85
-
(1992)
Exp. Clin. Immunogenet.
, vol.9
, pp. 80-85
-
-
Chu, X.1
Braun-Heimer, L.2
Rittner, C.3
Schneider, P.M.4
-
33
-
-
33646473251
-
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions
-
Friaes A., Rego A.T., Aragues J.M., Moura L.F., Mirante A., Mascarenhas M.R., Kay T.T., Lopes L.A., Rodrigues J.C., Guerra S., Dias T., Teles A.G., and Goncalves J. CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. Mol. Genet. Metab. 88 (2006) 58-65
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 58-65
-
-
Friaes, A.1
Rego, A.T.2
Aragues, J.M.3
Moura, L.F.4
Mirante, A.5
Mascarenhas, M.R.6
Kay, T.T.7
Lopes, L.A.8
Rodrigues, J.C.9
Guerra, S.10
Dias, T.11
Teles, A.G.12
Goncalves, J.13
-
34
-
-
0033597231
-
Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module): a mechanism for gene deletions and disease associations
-
Yang Z., Mendoza A.R., Welch T.R., Zipf W.B., and Yu C.Y. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module): a mechanism for gene deletions and disease associations. J. Biol. Chem. 274 (1999) 12147-12156
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 12147-12156
-
-
Yang, Z.1
Mendoza, A.R.2
Welch, T.R.3
Zipf, W.B.4
Yu, C.Y.5
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