Structure of human steroid 21-hydroxylase genes.

Cited by (568)

Items 101–200 of 568

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3. Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
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4. Comprehensive analysis of congenital adrenal hyperplasia using long-read sequencing
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5. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women
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6. Identification and location of .alpha.-helices in mammalian cytochromes P450
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7. Rainbow trout cytochrome P‐450c17 (17α‐hydroxylase/17,20‐lyase) cDNA cloning, enzymatic properties and temporal pattern of ovarian P‐450c17 mRNA expression during oogenesis
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8. Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
   Wedell, Anna, Luthman, Holger · 1993 · Human Genetics
9. Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
   Wu, D A, Chung, B C · 1991 · Journal of Clinical Investigation
10. Monogenic disorders of adrenal steroidogenesis
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11. Biochemical and genetic diagnosis of 21-hydroxylase deficiency
    Falhammar, Henrik, Wedell, Anna, Nordenström, Anna · 2015 · Endocrine
12. Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants
    Bin Zhao, Lei Li, Norio Kagawa, Munirathinam Sundaramoorthy, Surajit Banerjee, Leslie D. Nagy, Frederick Peter Guengerich, Michael R. Waterman · 2012 · Journal of Biological Chemistry
13. 11 Structure, regulation and role of 3β-hydroxysteroid dehydrogenase, 17β-hydroxysteroid dehydrogenase and aromatase enzymes in the formation of sex steroids in classical and peripheral intracrine tissues
    Labrie, Fernand, Simard, Jacques, Van Luu-The, Pelletier, Georges, Belghmi, Khalid, Bélanger, Alain · 1994 · Baillière s Clinical Endocrinology and Metabolism
14. Extensive deletions and insertions in different MHC supratypes detected by pusled field gel electrophoresis.
    Katsushi Tokunaga, G Saueracker, Peter H. Kay, Frank Christiansen, Rakesh Anand, Roger L. Dawkins · 1988 · The Journal of Experimental Medicine
15. Genetic organization of the human MHC class III region
    Caroline M. Milner · 2001 · Frontiers in bioscience
16. Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation
    Baumgartner-Parzer, S. M., Schulze, E., Waldhäusl, W., Pauschenwein, S., Rondot, S., Nowotny, P., Meyer, K., Frisch, H., Waldhauser, F., Vierhapper, H. · 2001 · The Journal of Clinical Endocrinology & Metabolism
17. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment
    Wedell, A · 1998 · Acta Paediatrica
18. Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis.
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19. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
    Barbat, Benoit, Bogyo, Any, Raux-Demay, Marie-Charles, Kuttenn, Frédéarique, Boué, Joelle, Simon-Bouy, Brigitte, Serre, Jean-Louis, Boué, André, Mornet, Etienne · 1995 · Human Mutation
20. The next 150 years of congenital adrenal hyperplasia
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21. cAMP-dependent transcription of the human CYP21B (P-450C21) gene requires a cis-regulatory element distinct from the consensus cAMP-regulatory element.
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22. Prenatal treatment of congenital adrenal hyperplasia
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23. A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
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24. Molecular Genetics of the Human MHC Complement Gene Cluster
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25. Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations
    María Luisa Ordóñez-Sánchez, Salvador Ramı́rez-Jiménez, Antonio Ulises López-Gutierrez, Laura Riba, Salvador Gamboa-Cardiel, Mabel Cerrillo-Hinojosa, Nelly F. Altamirano-Bustamante, Raúl Calzada‐León, Carlos Robles-Valdés, Fernando Mendoza-Morfín et al. · 1998 · Human Genetics
26. Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect
    Billerbeck, Ana Elisa C., Mendonca, Berenice B., Pinto, Emilia M., Madureira, Guiomar, Arnhold, Ivo J. P., Bachega, Tânia A. S. S. · 2002 · The Journal of Clinical Endocrinology & Metabolism
27. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region
    Antonio Balsamo, EMANUELE CACCIARI, Lilia Baldazzi, Lucia Tartaglia, Alessandra Cassio, Vilma Mantovani, Sandro Piazzi, Alessandro Cicognani, Piero Pirazzoli, Benedetta Mainetti et al. · 2000 · Clinical Endocrinology
28. Molecular Genetics of 21- Hydroxylase Deficiency
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29. Multiplex Minisequencing of the 21-Hydroxylase Gene as a Rapid Strategy to Confirm Congenital Adrenal Hyperplasia
    Nils Peter Krone, Andreas Dominik Braun, Stefanie Weinert, Michael Peter, Adelbert Anton Roscher, Carl‐Joachim Partsch, Wolfgang G. Sippell · 2002 · Clinical Chemistry
30. An operon containing the genes for cholesterol oxidase and a cytochrome P-450-like protein from a Streptomyces sp
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31. Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
    Charmandari, Evangelia, Eisenhofer, Graeme, Mehlinger, Sarah L., Carlson, Ann, Wesley, Robert, Keil, Margaret F., Chrousos, George P., New, Maria I., Merke, Deborah P. · 2002 · The Journal of Clinical Endocrinology & Metabolism
32. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
    Paola Concolino, Enrica Mello, Vincenzo Toscano, Franco Ameglio, Cecilia Zuppi, Ettore Capoluongo · 2009 · Clinica Chimica Acta
33. Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia
    Saroj Nimkarn, Karen Lin‐Su, Maria I. New · 2011 · Pediatric Clinics of North America
34. CYP21 mutations and congenital adrenal hyperplasia
    HH Lee · 2001 · Clinical Genetics
35. Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome
    Miller, Walter L., Merke, Deborah P. · 2018 · Hormone Research in Paediatrics
36. Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Saroj Nimkarn, Maria I. New · 2008 · Molecular and Cellular Endocrinology
37. The Spectrum of Molecular Defects of the CYP21 Gene in the Hellenic Population: Variable Concordance between Genotype and Phenotype in the Different Forms of Congenital Adrenal Hyperplasia
    Maria Dracopoulou, Maria Maniati-Christidi, Catherine Dacou‐Voutetakis · 2001 · The Journal of Clinical Endocrinology & Metabolism
38. 17-Hydroxyprogesterone in children, adolescents and adults
    John William Honour · 2014 · Annals of Clinical Biochemistry International Journal of Laboratory Medicine
39. Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
    Saroj Nimkarn, Maria I. New · 2006 · Hormone Research in Paediatrics
40. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
    Maria I. New · 1995 · The American Journal of Medicine
41. COMPLEXITY IN THE MAJOR HISTOCOMPATIBILITY COMPLEX
    John Trowsdale, R. Duncan Campbell · 1992 · International Journal of Immunogenetics
42. Conservation of the central MHC genome: PFGE mapping and RFLP analysis of complement, HSP70, and TNF genes in the goat
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43. Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene
    Wijesuriya, Sujeewa D., Zhang, Guangren, Dardis, Andrea, Miller, Walter L. · 1999 · Journal of Biological Chemistry
44. Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis
    Eliete Rabbi‐Bortolini, Andr�a L.F. Bernardino, Adoris L. Lopes, A Ferri, Maria Rita Passos‐Bueno, Mayana Zatz · 1998 · American Journal of Medical Genetics
45. Comprehensive Mutation Analysis of the CYP21A2 Gene
    Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B. · 2013 · The Journal of Molecular Diagnostics
46. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia
    Nimkarn, Saroj, Lin-Su, Karen, New, Maria I. · 2009 · Endocrinology and Metabolism Clinics of North America
47. The Rise, Fall, and Resurrection of 11-Oxygenated Androgens in Human Physiology and Disease
    Adina F. Turcu, Aya T Nanba, Richard Joseph Auchus · 2018 · Hormone Research in Paediatrics
48. Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)
    Dianne Keen‐Kim, Joy B. Redman, Reno U. Alanes, Michele M. Eachus, Robert C. Wilson, Maria I. New, Jon M. Nakamoto, Raymond G. Fenwick · 2005 · Journal of Molecular Diagnostics
49. Autoantibody epitope mapping of the 21-hydroxylase antigen in autoimmune Addison's disease
    Yiting Song, Ellen Lancon Connor, ANDREW B. MUIR, Jin‐Xiong She, Barbara Zorovich, D Derovanesian, Noel Keith Maclaren · 1994 · The Journal of Clinical Endocrinology & Metabolism
50. Mutations of the Steroid 21-Hydroxylase Gene in an Argentinian Population of 36 Patients with Classical Congenital Adrenal Hyperplasia
    Andrea Dardis, Ignacio Bergadá, César Bergadá, M. Rivarola, Alicia Belgorosky · 1997 · Journal of Pediatric Endocrinology and Metabolism
51. Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity
    Hoepffner, Wolfgang, Schulze, Egbert, Bennek, Joachim, Keller, Eberhard, Willgerodt, Helmut · 2004 · Fertility and Sterility
52. Functional Analysis of Two Recurrent Amino Acid Substitutions in theCYP21Gene from Italian Patients with Congenital Adrenal Hyperplasia
    Michela Barbaro, Svetlana Lajić, Lilia Baldazzi, Antonio Balsamo, Piero Pirazzoli, Alessandro Cicognani, Anna Wedell, EMANUELE CACCIARI · 2004 · The Journal of Clinical Endocrinology & Metabolism
53. Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism
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54. The Adrenal Cortex and its Disorders
    Walter L. Miller · 2009 · Wiley eBooks
55. Molecular heterogeneity of complement component c4‐null and 21‐hydroxylase genes in systemic lupus erythematosus
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56. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency
    Luciana Campos Paulino, M. Araujo, Gil Guerra‐Júnior, SHVL Marini, Maricilda Palandi de Mello · 1999 · Acta Paediatrica
57. Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B
    Patricia A. Donohoue, Nicholas Jospe, Claude J. Migeon, Cornelis Van Dop · 1989 · Genomics
58. Steroid 21-Hydroxylase Mutations and 21-Hydroxylase Messenger Ribonucleic Acid Expression in Human Adrenocortical Tumors
    Felix Beuschlein, Egbert Schulze, Patricia Mora, Hans-Peter Gensheimer, Christiane Maser‐Gluth, Bruno Allolio, Martín Reincke · 1998 · The Journal of Clinical Endocrinology & Metabolism
59. Evidence that an adrenal-specific nuclear protein regulates the cAMP responsiveness of the human CYP21B (P450C21) gene
    Norio Kagawa, Michael R. Waterman · 1991 · Journal of Biological Chemistry
60. Major histocompatibility complex class II and III in Addison's disease MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility
    Jukka Partanen, Pärt Peterson, Pia Westman, S. Aranko, Kai J. E. Krohn · 1994 · Human Immunology
61. Protein Kinase A, Protein Kinase C, and Ca2+-Regulated Expression of 21-Hydroxylase Cytochrome P450 in H295R Human Adrenocortical Cells
    Ian M. Bird, J. Ian Mason, William E. Rainey · 1998 · The Journal of Clinical Endocrinology & Metabolism
62. Nonclassic Congenital Adrenal Hyperplasia
    Smita Jha, Adina F. Turcu · 2021 · Endocrinology and Metabolism Clinics of North America
63. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
    Paola Concolino, Enrica Mello, Cecilia Zuppi, Ettore Capoluongo · 2010 · Clinical Chemistry and Laboratory Medicine (CCLM)
64. Characterization and expression of a P-450-like mycinamicin biosynthesis gene using a novel Micromonospora-Escherichia coli shuttle cosmid vector
    Masaharu Inouye, Yoshio Takada, Naoki Muto, Teruhiko Beppu, Sueharu Horinouchi · 1994 · Molecular and General Genetics MGG
65. A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
    Concolino, Paola, Mello, Enrica, Minucci, Angelo, Giardina, Emiliano, Zuppi, Cecilia, Toscano, Vincenzo, Capoluongo, Ettore · 2009 · BMC Medical Genetics
66. CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
    Firdevs Baş, Hülya Kayserili, Feyza Darendelıler, Zehra Oya Uyguner, Hülya Günöz, Memnune Yüksel Apak, Fatmahan Atalar, Rüveyde Bundak, Robert C. Wilson, Maria I. New et al. · 2009 · Journal of Clinical Research in Pediatric Endocrinology
67. Peripheral precocious puberty including congenital adrenal hyperplasia: causes, consequences, management and outcomes
    Nadine G. Haddad, Erica A. Eugster · 2019 · Best Practice & Research Clinical Endocrinology & Metabolism
68. Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    Saroj Nimkarn, Maria I. New · 2007 · Nature Clinical Practice Endocrinology & Metabolism
69. PRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA
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70. Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency
    Nils Peter Krone, Adelbert Anton Roscher, Hans Peter Schwarz, Andreas Dominik Braun · 1998 · Clinical Chemistry
71. Naturally Occurring Mutants of Human Steroid 21-Hydroxylase (P450c21) Pinpoint Residues Important for Enzyme Activity and Stability
    Andrej Nikoshkov, Svetlana Lajić, Alexios Vlamis‐Gardikas, Lisbeth Tranebjærg, Mikael Holst, Anna Wedell, Holger Luthman · 1998 · Journal of Biological Chemistry
72. Synthesis and regulation of the two human complement C4 genes in stable transfected mouse fibroblasts.
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73. A brief history of adrenal research
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74. The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency
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75. Expression of Human 21-Hydroxylase (P450c21) in Bacterial and Mammalian Cells: A System to Characterize Normal and Mutant Enzymes
    Hu, Meng-Chun, Chung, Bon-chu · 1990 · Molecular Endocrinology
76. The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
    Rocha, Rosana O., Billerbeck, Ana Elisa C., Pinto, Emília M., Melo, Karla F. S., Lin, Chin J., Longui, Carlos A., Mendonca, Berenice B., Bachega, Tânia A. S. S. · 2008 · Clinical Endocrinology
77. Functional Characterization of Two Novel Point Mutations in theCYP21Gene Causing Simple Virilizing Forms of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
    Nils Peter Krone, Felix G. Riepe, Joachim Grötzinger, Carl‐Joachim Partsch, Wolfgang G. Sippell · 2005 · The Journal of Clinical Endocrinology & Metabolism
78. A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency
    Turgut Tükel, Zehra Oya Uyguner, Ji‐Qing Wei, Memnune Yüksel‐Apak, Nurçin Saka, De-Xiu Song, Hülya Kayserili, Firdevs Baş, Hülya Günöz, Robert C. Wilson et al. · 2003 · The Journal of Clinical Endocrinology & Metabolism
79. Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation
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80. Genetic Diseases of Steroid Metabolism
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81. Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche
    Ghizzoni, Lucia, Cappa, Marco, Vottero, Alessandra, Ubertini, Graziamaria, Carta, Daniela, Di Iorgi, Natascia, Gasco, Valentina, Marchesi, Maddalena, Raggi, Vera, Ibba, Anastasia et al. · 2011 · European Journal of Endocrinology
82. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
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83. Genetic Analysis of Japanese Patients with 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
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84. The Common I172N Mutation Causes Conformational Change of Cytochrome P450c21 Revealed by Systematic Mutation, Kinetic, and Structural Studies
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85. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
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86. Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia
    Anna Ferenczi, Miklós Garami, Eszter Kiss, Mónika Pék, Mária Sasvári‐Székely, Csaba Barta, Mária Staub, J. Sólyom, György Fekete · 1999 · The Journal of Clinical Endocrinology & Metabolism
87. A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency
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88. P450 Enzymes in Steroid Processing
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89. An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects
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90. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease
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91. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
    Majlinda Lako, Simon Ramsden, R. Duncan Campbell, Tom Strachan · 1999 · Journal of Medical Genetics
92. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia
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93. Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency
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94. The swine steroid 21‐hydroxylase gene (CYP21): cloning and mapping within the swine leucocyte antigen complex
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95. Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
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97. Congenital Adrenal Hyperplasias
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98. The Genetics of Rheumatic Disease in Man
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99. 21-hydroxylase deficiency congenital adrenal hyperplasia
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100. Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population1
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