Compounds > heme
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heme and Congenital Adrenal Hyperplasia

heme has been researched along with Congenital Adrenal Hyperplasia in 9 studies

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (11.11)18.2507
2000's2 (22.22)29.6817
2010's5 (55.56)24.3611
2020's1 (11.11)2.80

Authors

AuthorsStudies
Lin, B; Zhang, H; Zheng, Q1
Gu, C; Lu, Y; Ma, Y; Tan, H; Yang, J1
Fujimoto, M; Hanaki, K; Kanzaki, S; Kawashima, Y; Miyahara, N; Nishimura, R; Usui, T1
Dedov, I; Kalinchenko, N; Nizhnik, A; Orekhova, A; Petrov, V; Prassolov, V; Rubtsov, P; Spirin, P; Tiulpakov, A1
Flück, CE; Mullis, PE; Pandey, AV1
D'Atri, V; Haider, S; Islam, B; New, MI; Poojari, C; Sgobba, M; Sun, L; Yuen, T; Zaidi, M1
Bertalan, R; Boros, A; Futo, L; Gergics, P; Glaz, E; Horanyi, J; Kun, I; Liko, I; Patocs, A; Pazmany, T; Racz, K; Szücs, N; Toth, M; Toth, S; Varga, I1
Carlsson, J; Persson, B; Robins, T; Sunnerhagen, M; Wedell, A1
Chung, BC; Wu, DA1

Other Studies

9 other study(ies) available for heme and Congenital Adrenal Hyperplasia

ArticleYear
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations.
    Physical chemistry chemical physics : PCCP, 2020, Apr-29, Volume: 22, Issue:16

    Topics: Adrenal Hyperplasia, Congenital; Heme; Humans; Molecular Dynamics Simulation; Mutation; Protein Binding; Protein Structure, Tertiary; Steroid 21-Hydroxylase

2020
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gene, 2017, Aug-30, Volume: 626

    Topics: Adrenal Hyperplasia, Congenital; Adult; Binding Sites; Cortodoxone; Female; HEK293 Cells; Heme; Heterozygote; Humans; Male; Mutation, Missense; Pedigree; Protein Binding; Steroid 11-beta-Hydroxylase

2017
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
    Endocrine journal, 2015, Volume: 62, Issue:1

    Topics: 17-alpha-Hydroxyprogesterone; Adrenal Hyperplasia, Congenital; Amino Acid Substitution; Anti-Inflammatory Agents; Binding, Competitive; Family Health; Fludrocortisone; Heme; Heterozygote; Humans; Hydrocortisone; Infant; Male; Parents; Point Mutation; Progesterone; Steroid 21-Hydroxylase; Substrate Specificity; Treatment Outcome; Up-Regulation

2015
Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
    European journal of endocrinology, 2015, Volume: 172, Issue:5

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Cytochromes; DNA; Heme; Humans; Infant; Male; Models, Molecular; Mutation, Missense; Plasmids; Steroid 17-alpha-Hydroxylase; Tandem Mass Spectrometry; Testis

2015
Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.
    Biochemical and biophysical research communications, 2010, Sep-24, Volume: 400, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Alleles; Flavin Mononucleotide; Heme; Heme Oxygenase-1; Humans; Mutation; NADPH-Ferrihemoprotein Reductase; Polymorphism, Genetic; Protein Structure, Tertiary

2010
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
    Proceedings of the National Academy of Sciences of the United States of America, 2013, Feb-12, Volume: 110, Issue:7

    Topics: Adrenal Hyperplasia, Congenital; Animals; Cattle; Cell Membrane; Computational Biology; Heme; Humans; Hydrogen Bonding; Models, Molecular; Molecular Dynamics Simulation; Mutation, Missense; Phenotype; Protein Binding; Protein Conformation; Steroid 21-Hydroxylase

2013
Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
    The Journal of steroid biochemistry and molecular biology, 2005, Volume: 97, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Adult; Amino Acid Substitution; Animals; Base Sequence; Binding Sites; Chlorocebus aethiops; COS Cells; Female; Heme; Hormones; Humans; Models, Molecular; Molecular Sequence Data; Mutation; Protein Structure, Secondary; Steroid 17-alpha-Hydroxylase

2005
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
    Molecular endocrinology (Baltimore, Md.), 2006, Volume: 20, Issue:11

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Animals; Binding Sites; Cytochrome P-450 Enzyme System; Cytochrome P450 Family 2; Enzyme Stability; Genetic Variation; Heme; Humans; Hydrophobic and Hydrophilic Interactions; Models, Molecular; Molecular Sequence Data; Mutant Proteins; Mutation; Oxidation-Reduction; Protein Binding; Protein Interaction Mapping; Protein Structure, Secondary; Rabbits; Severity of Illness Index; Species Specificity; Steroid 21-Hydroxylase; Steroids; Structure-Activity Relationship

2006
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.
    The Journal of clinical investigation, 1991, Volume: 88, Issue:2

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Animals; Base Sequence; Cell Line; Heme; Humans; Kinetics; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Oligonucleotides; Sequence Alignment; Steroid 21-Hydroxylase; Structure-Activity Relationship; Transfection

1991