Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
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Nils Krone | J. Grötzinger | W. Sippell | M. Peter | N. Krone | Joachim Grötzinger | Carl-Joachim Partsch | Felix G Riepe | Wolfgang G Sippell | C. Partsch | F. Riepe | Dorothea Götze | Eckhard Korsch | Manfred Rister | Jens Commentz | Michael Peter | M. Rister | J. Commentz | E. Korsch | Dorothea Götze
[1] R. Azziz,et al. 11β-Hydroxylase deficiency in hyperandrogenism * † , 1991 .
[2] H. Blanché,et al. Novel mutations in CYP21 detected in individuals with hyperandrogenism. , 2002, The Journal of clinical endocrinology and metabolism.
[3] Jose Cosme,et al. Crystal structure of human cytochrome P450 2C9 with bound warfarin , 2003, Nature.
[4] L. Pedersen,et al. Identification of Residues 99, 220, and 221 of Human Cytochrome P450 2C19 as Key Determinants of Omeprazole Hydroxylase Activity (*) , 1996, The Journal of Biological Chemistry.
[5] Mike Carson,et al. RIBBONS 2.0 , 1991 .
[6] O. Gotoh,et al. Substrate recognition sites in cytochrome P450 family 2 (CYP2) proteins inferred from comparative analyses of amino acid and coding nucleotide sequences. , 1992, The Journal of biological chemistry.
[7] C David Stout,et al. Structure of a substrate complex of mammalian cytochrome P450 2C5 at 2.3 A resolution: evidence for multiple substrate binding modes. , 2003, Biochemistry.
[8] P. White,et al. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2000, Endocrine reviews.
[9] M. Tusié-Luna,et al. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. , 1990, The Journal of biological chemistry.
[10] C David Stout,et al. Structure of Human Microsomal Cytochrome P450 2C8 , 2004, Journal of Biological Chemistry.
[11] P. Kraulis. A program to produce both detailed and schematic plots of protein structures , 1991 .
[12] M. Peter. Congenital Adrenal Hyperplasia: 11β-Hydroxylase Deficiency , 2002 .
[13] P. White,et al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[14] J. Gibrat,et al. A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations. , 2000 .
[15] R. Kofler,et al. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. , 1997, Human molecular genetics.
[16] M. New,et al. Prenatal Diagnosis and Treatment of 11β-Hydroxylase Deficiency Congenital Adrenal Hyperplasia Resulting in Normal Female Genitalia1 , 1999 .
[17] T. Kawamoto,et al. A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. , 1993, The Journal of clinical endocrinology and metabolism.
[18] H. Schrauber,et al. Engineering a Mineralocorticoid- to a Glucocorticoid-synthesizing Cytochrome P450 (*) , 1996, The Journal of Biological Chemistry.
[19] Disorders of steroid 11β-hydroxylase isozymes , 1994 .
[20] G Vriend,et al. WHAT IF: a molecular modeling and drug design program. , 1990, Journal of molecular graphics.
[21] P. White,et al. Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). , 1989, The Journal of biological chemistry.
[22] S. Antonarakis. Recommendations for a nomenclature system for human gene mutations , 1998 .
[23] S. Lajic,et al. CYP21 mutations in simple virilizing congenital adrenal hyperplasia , 2001, Journal of Molecular Medicine.
[24] D. Mansuy,et al. Substrate selectivity of human cytochrome P450 2C9: importance of residues 476, 365, and 114 in recognition of diclofenac and sulfaphenazole and in mechanism-based inactivation by tienilic acid. , 2003, Archives of biochemistry and biophysics.
[25] S. Antonarakis,et al. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .
[26] W. Miller,et al. Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. , 1999, Molecular endocrinology.
[27] G. Rumsby,et al. Steroid 11 beta-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene. , 1994, Human Molecular Genetics.
[28] R. Kofler,et al. Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. , 1992, The Journal of clinical endocrinology and metabolism.
[29] J. Baron,et al. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. , 1998, The Journal of clinical endocrinology and metabolism.
[30] Z. Hochberg,et al. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. , 1991, The Journal of clinical investigation.
[31] R. Bernhardt,et al. Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones. , 1998, European journal of biochemistry.
[32] M. Tusié-Luna,et al. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. , 1991, Molecular endocrinology.
[33] Perrin C White,et al. Congenital adrenal hyperplasia. , 2003, The New England journal of medicine.
[34] H. Dörr,et al. Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone. , 1978, Journal of steroid biochemistry.
[35] R. Kofler,et al. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. , 1996, The Journal of clinical endocrinology and metabolism.
[36] A. Rösler,et al. High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. , 1992, American journal of medical genetics.
[37] Stephanie Bechtel,et al. The effect of amino-acid substitutions I112P, D147E and K152N in CYP11B2 on the catalytic activities of the enzyme. , 2002, European journal of biochemistry.
[38] R. Bernhardt,et al. Modelling of three-dimensional structures of cytochromes P450 11B1 and 11B2. , 2001, Journal of inorganic biochemistry.
[39] J. Imperato-McGinley,et al. Mutations in CYP11B1 gene: Phenotype–genotype correlations , 2003, American journal of medical genetics. Part A.