| 1 | CYP21A2
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| Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
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| Neocleous V, Shammas C, Phedonos AA, Phylactou LA, Skordis N.
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| Indian J Endocrinol Metab 18(Suppl 1):S72-9. doi: 10.4103/2230-8210.145077.
2014
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| 2 | CYP21A2
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| Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.
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| Massimi A, Malaponti M, Federici L, Vinciguerra D, Manca Bitti ML, Vottero A, Ghizzoni L, Maccarrone M, Cappa M, Bernardini S, Porzio O.
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| Horm Metab Res 46(7):515-20. doi: 10.1055/s-0034-1371864. Epub 2014 May 5.
2014
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| 3 | CYP21A2
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| Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
|
| Haider S, Islam B, D'Atri V, Sgobba M, Poojari C, Sun L, Yuen T, Zaidi M, New MI.
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| Proc Natl Acad Sci U S A 110(7):2605-10. doi: 10.1073/pnas.1221133110. Epub 2013 Jan 28.
2013
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| 4 | CYP21A2
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| CYP21A2 genotypes do not predict the severity of hyperandrogenic manifestations in the nonclassical form of congenital adrenal hyperplasia.
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| Moura-Massari VO, Bugano DD, Marcondes JA, Gomes LG, Mendonca BB, Bachega TA.
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| Horm Metab Res 45(4):301-7. doi: 10.1055/s-0032-1330007. Epub 2013 Jan 15.
2013
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| 5 | CYP21A2
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| Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency.
|
| Nermoen I, Brønstad I, Fougner KJ, Svartberg J, Øksnes M, Husebye ES, Løvås K.
|
| Eur J Endocrinol 167(4):507-16. doi: 10.1530/EJE-12-0196. Epub 2012 Jul 16.
2012
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| 6 | CYP21A2
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| Vitamin D-mediated regulation of CYP21A2 transcription - a novel mechanism for vitamin D action.
|
| Lundqvist J, Wikvall K, Norlin M.
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| Biochim Biophys Acta 1820(10):1553-9. doi: 10.1016/j.bbagen.2012.04.017. Epub 2012 Apr 27.
2012
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| 7 | CYP17A1, CYP21A2
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| Synthesis of halogenated pregnanes, mechanistic probes of steroid hydroxylases CYP17A1 and CYP21A2.
|
| Yoshimoto FK, Desilets MC, Auchus RJ.
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| J Steroid Biochem Mol Biol 128(1-2):38-50. doi: 10.1016/j.jsbmb.2011.09.007. Epub 2011 Oct 5.
2012
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| 8 | CYP21A2
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| Why human cytochrome P450c21 is a progesterone 21-hydroxylase.
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| Mizrachi D, Wang Z, Sharma KK, Gupta MK, Xu K, Dwyer CR, Auchus RJ.
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| Biochemistry 50(19):3968-74. doi: 10.1021/bi102078e. Epub 2011 Apr 21.
2011
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| 9 | CYP21A2
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| Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
|
| Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel Y.
|
| J Clin Endocrinol Metab 95(3):1288-300. doi: 10.1210/jc.2009-1202. Epub 2010 Jan 15.
2010
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| 10 | CYP21A2
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| A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.
|
| Dubey S, Idicula-Thomas S, Anwaruddin M, Saravanan C, Varma RR, Maitra A.
|
| J Biomed Sci 16:3. doi: 10.1186/1423-0127-16-3.
2009
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| 11 | CYP21A2
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| p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
|
| Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y.
|
| J Clin Endocrinol Metab 93(5):1901-8. Epub 2008 Mar 4. 2008
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| 12 | CYP21A2
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| Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
|
| Robins T, Bellanne-Chantelot C, Barbaro M, Cabrol S, Wedell A, Lajic S.
|
| J Mol Med 85(3):247-55. Epub 2006 Nov 21.
2007
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| 13 | CYP21A2
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| Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
|
| Bojunga J, Welsch C, Antes I, Albrecht M, Lengauer T, Zeuzem S.
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| Hum Genet 117(6):558-64. Epub 2005 Jul 19. 2005
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| 14 | CYP21A2
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| 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 NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.
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| J Clin Endocrinol Metab 88(8):3852-9. 2003
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| 15 | CYP21A2
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| A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
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| Mornet E, Gibrat JF.
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| Hum Genet 106(3):330-9. 2000
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| 16 | CYP11A1, CYP11B1, CYP11B2, CYP21A2
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| Steroidogenic enzyme gene expression in the human heart.
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| Kayes-Wandover KM, White PC.
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| J Clin Endocrinol Metab 85(7):2519-25. 2000
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| 17 | CYP21A2, HSD11B2
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| Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
|
| New MI, Wilson RC.
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| Proc Natl Acad Sci U S A 96(22):12790-7 1999
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| 18 | C4A,C4B, CYP21A2, CYP21A1P
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| High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia.
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| Lobato MN, Aledo R, Meseguer A.
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| Hum Hered 48 : 216-225. 1998
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| 19 | CYP21A2, UPD6P
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| Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency : evidence of different genetic mechanisms involved in the production of the disease.
|
| Lopez-Gutierrez AU, Riba L, Ordonez-Sanchez ML, Ramirez-Jimenez S, Cerrillo-Hinojosa M, Tusie-Luna MT.
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| J Med Genet 35 : 1014-1019. 1998
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| 20 | CYP21A2
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| E380D : a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
| Kirby-Keyser L, Porter CC, Donohoue PA.
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| Hum Mutat 9 : 181-182. 1997
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| 21 | CYP21A2
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| Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.
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| Levo A, Partanen J.
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| Hum Mutat 9 : 363-365. 1997
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| 22 | CYP21A2
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| Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women.
|
| Blanche H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellanne-Chantelot C.
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| Hum Genet 101(1):56-60. 1997
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| 23 | CYP21A2, C4A, C4B
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| Visual demonstration of the organization of the human complement C4 and 21-hydroxylase genes by high-resolution fluorescence in situ hybridization.
|
| Suto Y, Tokunaga K, Watanabe Y, Hirai M.
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| Genomics 33 : 321-324. 1996
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| 24 | CYP21A2
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| Who is a carrier ? Detection of unsuspected mutations in 21-hydroxylase deficiency.
|
| Witchel SS, Lee PA, Trucco M.
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| Am J Med Genet 61 : 2-9. 1996
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| 25 | CYP21A2
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| An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
|
| Lajic S, Wedell A.
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| Hum Genet 98 : 182-184. 1996
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| 26 | CYP21A2
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| Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population.
|
| Tusie-Luna MT, Ramirez-Jimenez S, Ordonez-Sanchez ML, Cabello-Villegas J, Altamirano-Bustamante N, Calzada-Leon R, Robles-Valdes C, Mendoza-Morfin F, Mendez JP, Teran-Garcia M.
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| Hum Genet 98 : 376-379. 1996
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| 27 | CYP21A2
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| Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
|
| Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC.
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| Hum Mol Genet 5 : 2039-2048. 1996
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| 28 | CYP21A2
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| Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
| Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB.
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| J Clin Endocrinol Metab 81 : 4081-4088. 1996
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| 29 | CYP21A2
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| Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
|
| Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boue J, Simon-Bouy B, Serre JL, Mornet E.
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| Hum Mutat 5 : 126-130. 1995
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| 30 | CYP21A2
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| Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
|
| Evgrafov OV, Polyakov AV, Dzenis IG, Baharev VA.
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| Hum Mutat 5 : 131-136. 1995
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| 31 | CYP21A2, CYP21A1P
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| Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
|
| Day DJ, Speiser PW, White PC, Barany F.
|
| Genomics 29 : 152-162. 1995
|
| 32 | CYP21A2, CYP21A1P
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| Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
|
| Tusie-Luna MT, White PC.
|
| Proc Natl Acad Sci U S A 92 : 10796-10800. 1995
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| 33 | CYP21A2
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| Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.
|
| Kohn B, Day D, Alemzadeh R, Enerio D, Patel SV, Pelczar JV, Speiser PW.
|
| Am J Med Genet 57 : 450-454. 1995
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| 34 | CYP21A2
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| A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population.
|
| Wedell A, Chun X, Luthman H.
|
| Hum Genet 93 : 204-206. 1994
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| 35 | CYP21A2
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| Mutations in steroid 21-hydroxylase (CYP21).
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| White PC, Tusie-Luna MT, New MI, Speiser PW.
|
| Hum Mutat 3 : 373-378. 1994
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| 36 | C4B, CYP21A2
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| Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
|
| Wedell A, Stengler B, Luthman H.
|
| Hum Genet 94 : 50-54. 1994
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| 37 | CYP21A2
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| A De novo pathological point mutation at the 21-hydroxylase locus : implications for gene conversion in the human genome.
|
| Collier S, Tassabehji M, Sinnott P, Strachan T.
|
| Nat Genet 3 : 260-264. 1993
|
| 38 | CYP21A2
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| Steroid 21-hydroxylase deficiency : two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
|
| Wedell A, Luthman H.
|
| Hum Mol Genet 2 : 499-504. 1993
|
| 39 | CYP21A2
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| Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
|
| Speiser PW, New MI, Tannin GM, Pickering D, Yang SY, White PC.
|
| Hum Genet 88 : 647-648. 1992
|
| 40 | CYP21A2
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| Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes.
|
| Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, Albert E, Kofler R.
|
| DNA Cell Biol 11 : 359-368. 1992
|
| 41 | CYP21A2
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| Steroid 21-hydroxylase deficiency : three additional mutated alleles and establishement of phenotype-genotype relationships of common mutations.
|
| Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H.
|
| Proc Natl Acad Sci U S A 89 : 7232-7236. 1992
|
| 42 | C4A, C4B, CYP21A2
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| A rare TaqI polymorphism in a human complement C4 gene is caused by an additional restriction site in the first intron.
|
| Koppens PF, Hoogenboezem T, Degenhart HJ.
|
| Immunol Lett 34 : 93-97. 1992
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| 43 | CYP21A2
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| Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
|
| Owerbach D, Draznin MB, Carpenter RJ, Greenberg F.
|
| Hum Genet 89 : 109-110. 1992
|
| 44 | CYP21A1P, CYP21A2
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| R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
|
| Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC.
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| Mol Endocrinol 6(8):1318-22 1992
|
| 45 | CYP21A2
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| Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.
|
| Mornet E, Crete P, Kuttenn F, Raux-Demay MC, Boue J, White PC, Boue A.
|
| Am J Hum Genet 48 : 79-88. 1991
|
| 46 | CYP21A2
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| A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
|
| Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC.
|
| Mol Endocrinol 5 : 685-692. 1991
|
| 47 | CYP21A2
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| Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
|
| Wu DA, Chung BC.
|
| J Clin Invest 88 : 519-523. 1991
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| 48 | CYP21A2
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| Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.
|
| Partanen J, Campbell RD.
|
| Hum Genet 87 : 716-720. 1991
|
| 49 | CYP21A2
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| Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.
|
| Killeen AA, Sane KS, Orr HT.
|
| J Steroid Biochem Mol Biol 38 : 677-686. 1991
|
| 50 | CYP21A2
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| Late onset adrenal hyperplasia : mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous.
|
| Wells G, Azziz R.
|
| Fertil Steril 54 : 819-823. 1990
|
| 51 | CYP21A2
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| CYP21B gene conversion and complete CYP21A gene deletion in congenital adrenal hyperplasia.
|
| Lobaccaro JM, Ghanem N, Lefranc G, Sultan C.
|
| Ann Genet 33 : 70-75. 1990
|
| 52 | CYP21A2
|
| TaqI HLA-B and -DRB RFLP analysis can predict disease in siblings of affected children with 21-hydroxylase deficiency.
|
| Olerup O, Luthman H, Ritzen EM, Haglund-Stengler B.
|
| Hum Genet 85 : 467-472. 1990
|
| 53 | CYP21A2
|
| Exon 7 NcoI restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism.
|
| Donohoue PA, Sandrini Neto R, Collins MM, Migeon CJ.
|
| Mol Endocrinol 4 : 1354-1362. 1990
|
| 54 | CYP21A2
|
| Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B.
|
| Donohoue PA, Jospe N, Migeon CJ, Van Dop C.
|
| Genomics 5 : 397-406. 1989
|
| 55 | CYP21A2
|
| Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.
|
| Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T.
|
| EMBO J 8 : 1393-1402. 1989
|
| 56 | CYP21A2
|
| A segregation and linkage study of classical and non classical 21-hydroxylase deficiency.
|
| Sherman SL, Aston CE, Morton NE, Speiser PW, New MI.
|
| Am J Hum Genet 42 : 830-838. 1988
|
| 57 | CYP21A2
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| Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14, DR1.
|
| Speiser PW, New MI, White PC.
|
| N Engl J Med 319 : 19-23. 1988
|
| 58 | CYP21A2
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| Nonsense mutation causing steroid 21-hydroxylase deficiency.
|
| Globerman H, Amor M, Parker KL, New MI, White PC.
|
| J Clin Invest 82 : 139-144. 1988
|
| 59 | CYP21A2
|
| Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene : implications for steroid 21-hydroxylase deficiency.
|
| Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y.
|
| Am J Hum Genet 42 : 17-25. 1988
|
| 60 | CYP21A2
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| Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
|
| Amor M, Parker KL, Globerman H, New MI, White PC.
|
| Proc Natl Acad Sci U S A 85 : 1600-1604. 1988
|
| 61 | CYP21A2, CYP21A1P
|
| Genetic mapping of the 21-hydroxylase locus : estimatiom of small recombination frequencies.
|
| Aston CE, Sherman SL, Morton NE, Speiser PW, New MI.
|
| Am J Hum Genet 43 : 304-310. 1988
|
| 62 | CYP21A2
|
| Identification of a new HLA-B7-associated C21-hydroxylase deficiency gene by restriction enzyme length polymorphism.
|
| Keller E, Andreas-Zietz A, Knorr D, Scholz S, Albert ED.
|
| Immunogenetics 25 : 123-125. 1987
|
| 63 | CYP21A2
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| Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
|
| Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD.
|
| EMBO J 6 : 1653-1661. 1987
|
| 64 | CYP21A2
|
| P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.
|
| Matteson KJ, Phillips JA 3rd, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A, Burr IM.
|
| Proc Natl Acad Sci U S A 84(16):5858-62 1987
|
| 65 | CYP21A2
|
| Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
|
| Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y.
|
| Proc Natl Acad Sci U S A 83 : 2841-2845. 1986
|
| 66 | CYP21A2
|
| Structure of human steroid 21-hydroxylase genes.
|
| White PC, New MI, Dupont B.
|
| Proc Natl Acad Sci U S A 83 : 5111-5115. 1986
|
| 67 | CYP21A2
|
| Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes.
|
| Donohoue PA, Jospe N, Migeon CJ, McLean RH, Bias WB, White PC, Van Dop C.
|
| Biochem Biophys Res Commun 136 : 722-729. 1986
|
| 68 | CYP21A2
|
| Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes.
|
| Garlepp MJ, Wilton AN, Dawkins RL, White PC.
|
| Immunogenetics 23 : 100-105. 1986
|
| 69 | CYP21A2
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| Late-onset adrenal hyperplasia in hirsutism.
|
| Kuttenn F, Couillin P, Girard F, Billaud L, Vincens M, Boucekkine C, Thalabard JC, Maudelonde T, Spritzer P, Mowszowicz I, et al.
|
| N Engl J Med 313 : 224-231. 1985
|
| 70 | CYP21A2
|
| Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.
|
| White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL.
|
| Proc Natl Acad Sci U S A 82 : 1089-1093. 1985
|
| 71 | CYP21A2
|
| Mapping of steroid 21-hydroxylase genes adjacent to complementcomponent C4 genes in HLA, the major histocompatibility complex in man.
|
| Carroll MC, Campbell RD, Porter RR.
|
| Proc Natl Acad Sci U S A 82 : 521-525. 1985
|
| 72 | CYP21A2
|
| HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
|
| White PC, New MI, Dupont B.
|
| Proc Natl Acad Sci U S A 81 : 7505-7509. 1984
|
| 73 | CFB, C2, C4A, C4B, CYP21A2
|
| A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B.
|
| Carroll MC, Campbell RD, Bentley DR, Porter RR.
|
| Nature 307 : 237-241. 1984
|
| 74 | CYP21A2
|
| Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
|
| Levine LS, Zachmann M, New MI, Prader A, Pollack MS, O'Neill GJ, Yang SY, Oberfield SE, Dupont B.
|
| N Engl J Med 299 : 911-915. 1978
|
| 75 | CYP21A2
|
| Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
|
| Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS.
|
| Lancet II : 1309-1312. 1977
|