Compounds > histidine
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histidine and Congenital Adrenal Hyperplasia

histidine has been researched along with Congenital Adrenal Hyperplasia in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (28.57)18.2507
2000's2 (28.57)29.6817
2010's2 (28.57)24.3611
2020's1 (14.29)2.80

Authors

AuthorsStudies
Baj, F; DiNardo, G; Gilardi, G; Pandey, AV; Parween, S; Zhang, C1
Choi, JH; Kang, M; Kim, GH; Kim, SY; Kim, YM; Lee, BH; Ohn, JH; Park, MS; Yoo, HW1
Bosch, MZ; Ibáñez, L; Oriola, J; Valls, C1
Badarneh, K; Gershoni-Baruch, R; Hochberg, Z; Kasinetz, L; Paperna, T1
Bertherat, J; Boikos, S; Giatzakis, C; Greene, E; Horvath, A; Libè, R; Nesterova, M; Osorio, P; Patronas, Y; Remmers, E; Robinson-White, A; Stratakis, CA; Tsang, K1
Fardella, CE; Homoki, J; Hum, DW; Miller, WL1
Date, T; Fujioka, M; Kobayashi, M; Miller, WL; Monno, S; Ogawa, H1

Reviews

1 review(s) available for histidine and Congenital Adrenal Hyperplasia

ArticleYear
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
    Metabolism: clinical and experimental, 2014, Volume: 63, Issue:1

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Asian People; DNA Mutational Analysis; Founder Effect; Gene Frequency; Glucocorticoids; Heterozygote; Histidine; Humans; Hypertension; Leucine; Models, Chemical; Mutation; Polymerase Chain Reaction; Prednisolone; Republic of Korea; Steroid 17-alpha-Hydroxylase; Tryptophan

2014

Other Studies

6 other study(ies) available for histidine and Congenital Adrenal Hyperplasia

ArticleYear
Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H.
    The Journal of steroid biochemistry and molecular biology, 2020, Volume: 196

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Substitution; Androstenedione; Arginine; Aromatase; Cysteine; Cytochrome P-450 CYP1A1; Cytochrome P-450 Enzyme System; Enzyme Activation; Histidine; Humans; Models, Molecular; Mutation, Missense; Polymorphism, Single Nucleotide; Protein Conformation; Structure-Activity Relationship

2020
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
    Hormone research in paediatrics, 2011, Volume: 76, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Base Sequence; Child; Female; Genetic Association Studies; Histidine; Humans; Leucine; Male; Mutation Rate; Mutation, Missense; Pedigree; Phenotype; Steroid 21-Hydroxylase; Virilism

2011
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
    The Journal of clinical endocrinology and metabolism, 2005, Volume: 90, Issue:9

    Topics: Adrenal Hyperplasia, Congenital; Adult; Arginine; Base Sequence; Codon; Female; Gene Frequency; Genetic Testing; Heterozygote; Histidine; Humans; Infant, Newborn; Jews; Morocco; Mutation; Pedigree; Steroid 11-beta-Hydroxylase

2005
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
    European journal of human genetics : EJHG, 2008, Volume: 16, Issue:10

    Topics: 3',5'-Cyclic-AMP Phosphodiesterases; Adolescent; Adrenal Cortex; Adrenal Cortex Diseases; Adrenal Cortex Neoplasms; Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Animals; Base Sequence; Child; Child, Preschool; Conserved Sequence; Cushing Syndrome; Female; Histidine; Humans; Infant; Isoenzymes; Male; Mice; Molecular Sequence Data; Mutation; Pedigree; Proline

2008
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
    The Journal of clinical endocrinology and metabolism, 1994, Volume: 79, Issue:1

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Arginine; Base Sequence; Cell Line; Female; Germany; Histidine; Humans; Hypertension; Hypokalemia; Molecular Sequence Data; Mutagenesis, Site-Directed; Point Mutation; Polymerase Chain Reaction; Steroid 17-alpha-Hydroxylase; Transfection

1994
Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency.
    The Journal of biological chemistry, 1993, Dec-05, Volume: 268, Issue:34

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Alleles; Amino Acid Sequence; Animals; Base Sequence; Blotting, Southern; Cell Line; Codon; DNA; DNA Primers; Exons; Female; Histidine; Humans; Leucine; Leukocytes; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Point Mutation; Polymerase Chain Reaction; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Transfection

1993