leucine and Congenital Adrenal Hyperplasia

leucine has been researched along with Congenital Adrenal Hyperplasia in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19901 (10.00)18.7374
1990's3 (30.00)18.2507
2000's4 (40.00)29.6817
2010's2 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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
Baldazzi, L; Balsamo, A; Barbaro, M; Cacciari, E; Cicognani, A; Lajic, S; Pirazzoli, P; Wedell, A1
Ducharme, L; Khoury, K; LeHoux, JG1
Homoki, J; Moisan, AM; Peter, M; Schwab, KO; Simard, J1
Achermann, JC; Flück, CE; Leheup, B; Mallet, D; Maret, A; Morel, Y; Mullis, PE; Portrat-Doyen, S; Theintz, GE1
Date, T; Fujioka, M; Kobayashi, M; Miller, WL; Monno, S; Ogawa, H1
Killeen, AA; Orr, HT; Sane, KS1
Dumic, M; New, MI; Speiser, PW; Tusie-Luna, MT; White, PC1
Bransome, ED; Castells, S1

Reviews

1 review(s) available for leucine 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

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

ArticleYear
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
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism, 2004, Volume: 89, Issue:5

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Amino Acid Substitution; Animals; Child; Child, Preschool; Chlorocebus aethiops; COS Cells; Female; Humans; Infant; Infant, Newborn; Italy; Leucine; Male; Proline; Serine; Steroid 21-Hydroxylase

2004
Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation.
    Endocrine research, 2004, Volume: 30, Issue:4

    Topics: Adrenal Hyperplasia, Congenital; Animals; Chlorocebus aethiops; COS Cells; Female; Humans; Infant; Leucine; Mutation; Phosphoproteins; Proline; Transfection

2004
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.
    Journal of pediatric endocrinology & metabolism : JPEM, 2005, Volume: 18, Issue:4

    Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Arginine; Body Height; Codon, Nonsense; Disorders of Sex Development; Estrogens; Estrogens, Conjugated (USP); Female; Growth Disorders; Heterozygote; Humans; Leucine; Mutation; Mutation, Missense; Orchiectomy; Proline; Puberty; Steroid 17-alpha-Hydroxylase

2005
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
    The Journal of clinical endocrinology and metabolism, 2005, Volume: 90, Issue:9

    Topics: Adrenal Hyperplasia, Congenital; DNA Mutational Analysis; Female; Humans; Infant; Leucine; Microsatellite Repeats; Mutation, Missense; Pedigree; Phosphoproteins; Pregnenolone; Proline; Switzerland

2005
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
Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.
    The Journal of steroid biochemistry and molecular biology, 1991, Volume: 38, Issue:6

    Topics: Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Base Sequence; DNA; Female; Genes, MHC Class II; HLA-B Antigens; HLA-B44 Antigen; Humans; Leucine; Male; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Polymerase Chain Reaction; Proline; Pseudogenes; Recombination, Genetic; Steroid 21-Hydroxylase

1991
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
    Molecular endocrinology (Baltimore, Md.), 1991, Volume: 5, Issue:5

    Topics: Adrenal Hyperplasia, Congenital; Alleles; Animals; Base Sequence; Female; Humans; Leucine; Male; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Pedigree; Proline; Rabbits; Recombinant Proteins; Steroid 21-Hydroxylase; Vaccinia virus

1991
Comparison of the effect of ACTH and an inhibitor of 3-beta-hydroxysteroid dehydrogenase on the synthesis of adrenal microsomal proteins.
    The Journal of clinical endocrinology and metabolism, 1969, Volume: 29, Issue:4

    Topics: Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Androstanes; Animals; Electrophoresis; Guinea Pigs; Hydroxysteroid Dehydrogenases; Leucine; Male; Microsomes; Protein Biosynthesis; Proteins; RNA; Sterols; Stimulation, Chemical; Tritium

1969