proline has been researched along with Congenital Adrenal Hyperplasia in 10 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (50.00) | 18.2507 |
| 2000's | 5 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| 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, K | 1 |
| Azziz, R; Ballard, AL; Owerbach, D; Sherman, L | 1 |
| Harikrishna, JA; Jones, KL; Lin, D; Miller, WL; Moore, CC | 1 |
| Ahlgren, R; Simpson, ER; Waterman, MR; Winter, JS; Yanase, T | 1 |
| Killeen, AA; Orr, HT; Sane, KS | 1 |
| Dumic, M; New, MI; Speiser, PW; Tusie-Luna, MT; White, PC | 1 |
10 other study(ies) available for proline and Congenital Adrenal Hyperplasia
| Article | Year |
|---|---|
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 |
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.
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 |
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Base Sequence; DNA; Female; Humans; Molecular Sequence Data; Point Mutation; Proline; Serine | 1992 |
Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Alleles; Base Sequence; Blotting, Northern; Blotting, Southern; Chromatography, Thin Layer; DNA; Electrophoresis, Polyacrylamide Gel; Female; Homozygote; Humans; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Polymerase Chain Reaction; Pregnenolone; Progesterone; Proline; RNA; Serine; Steroid 17-alpha-Hydroxylase | 1991 |
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Alleles; Amino Acid Sequence; Animals; Arginine; Base Sequence; Blotting, Southern; Cell Line; Child; Cytochrome P-450 Enzyme System; Disorders of Sex Development; DNA; Heterozygote; Humans; Leukocytes; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Proline; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Threonine; Transfection | 1992 |
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 |