leucine has been researched along with Congenital Adrenal Hyperplasia in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (10.00) | 18.7374 |
| 1990's | 3 (30.00) | 18.2507 |
| 2000's | 4 (40.00) | 29.6817 |
| 2010's | 2 (20.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Choi, JH; Kang, M; Kim, GH; Kim, SY; Kim, YM; Lee, BH; Ohn, JH; Park, MS; Yoo, HW | 1 |
| Bosch, MZ; Ibáñez, L; Oriola, J; Valls, C | 1 |
| Baldazzi, L; Balsamo, A; Barbaro, M; Cacciari, E; Cicognani, A; Lajic, S; Pirazzoli, P; Wedell, A | 1 |
| Ducharme, L; Khoury, K; LeHoux, JG | 1 |
| Homoki, J; Moisan, AM; Peter, M; Schwab, KO; Simard, J | 1 |
| Achermann, JC; Flück, CE; Leheup, B; Mallet, D; Maret, A; Morel, Y; Mullis, PE; Portrat-Doyen, S; Theintz, GE | 1 |
| Date, T; Fujioka, M; Kobayashi, M; Miller, WL; Monno, S; Ogawa, H | 1 |
| Killeen, AA; Orr, HT; Sane, KS | 1 |
| Dumic, M; New, MI; Speiser, PW; Tusie-Luna, MT; White, PC | 1 |
| Bransome, ED; Castells, S | 1 |
1 review(s) available for leucine and Congenital Adrenal Hyperplasia
| Article | Year |
|---|---|
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.
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 |
9 other study(ies) available for leucine and Congenital Adrenal Hyperplasia
| Article | Year |
|---|---|
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.
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.
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.
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.
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.
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.
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.
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.
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.
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 |