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Results: 1 to 10 of 18

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Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
Wang C, Pallan PS, Zhang W, Lei L, Yoshimoto FK, Waterman MR, Egli M, Guengerich FP
(2017) J Biol Chem 292: 10767-10778
MeSH Terms: Adrenal Hyperplasia, Congenital, Circular Dichroism, Cytochromes b5, Deuterium Exchange Measurement, Enzyme Stability, Hot Temperature, Humans, Mutation, Protein Domains, Spectrophotometry, Ultraviolet, Steroid 21-Hydroxylase
Added March 14, 2018
0 Communities
1 Members
0 Resources
11 MeSH Terms
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Pallan PS, Lei L, Wang C, Waterman MR, Guengerich FP, Egli M
(2015) Mol Endocrinol 29: 1375-84
MeSH Terms: Adrenal Hyperplasia, Congenital, Crystallography, X-Ray, Humans, Mutation, Progesterone, Protein Folding, Steroid 21-Hydroxylase, Structure-Activity Relationship
Added March 14, 2018
0 Communities
1 Members
0 Resources
8 MeSH Terms
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.
Zhao B, Lei L, Kagawa N, Sundaramoorthy M, Banerjee S, Nagy LD, Guengerich FP, Waterman MR
(2012) J Biol Chem 287: 10613-10622
MeSH Terms: 17-alpha-Hydroxyprogesterone, Adrenal Hyperplasia, Congenital, Animals, Binding Sites, Cattle, Crystallography, X-Ray, Humans, Mutation, Steroid 21-Hydroxylase, Structure-Activity Relationship
Added March 7, 2014
0 Communities
2 Members
0 Resources
10 MeSH Terms
Molecular basis of 17α-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR
(1992) J Steroid Biochem Mol Biol 43: 973-9
MeSH Terms: Adrenal Hyperplasia, Congenital, Animals, COS Cells, Chlorocebus aethiops, Exons, Female, Humans, Male, Mutant Proteins, Recombinant Proteins, Steroid 17-alpha-Hydroxylase
Added February 12, 2015
0 Communities
1 Members
0 Resources
11 MeSH Terms
Sonographic findings in infants with congenital adrenal hyperplasia.
Hernanz-Schulman M, Brock JW, Russell W
(2002) Pediatr Radiol 32: 130-7
MeSH Terms: Adrenal Glands, Adrenal Hyperplasia, Congenital, Diagnosis, Differential, Female, Humans, Infant, Infant, Newborn, Male, Sensitivity and Specificity, Sex Determination Analysis, Steroid 11-beta-Hydroxylase, Steroid 21-Hydroxylase, Ultrasonography
Added March 24, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
Cytochromes P450 in synthesis of steroid hormones, bile acids, vitamin D3 and cholesterol.
Pikuleva I, Waterman M
(1999) Mol Aspects Med 20: 33-42, 43-37
MeSH Terms: Adrenal Cortex, Adrenal Hyperplasia, Congenital, Animals, Bile Acids and Salts, Cholecalciferol, Cholesterol, Cytochrome P-450 Enzyme System, Female, Humans, Male, Ovary, Steroids, Testis
Added February 12, 2015
0 Communities
1 Members
0 Resources
13 MeSH Terms
No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia.
Sakai Y, Yanase T, Okabe Y, Hara T, Waterman MR, Takayanagi R, Haji M, Nawata H
(1994) J Clin Endocrinol Metab 79: 1198-201
MeSH Terms: Adolescent, Adrenal Hyperplasia, Congenital, Adrenodoxin, Base Sequence, Cholesterol Side-Chain Cleavage Enzyme, Disorders of Sex Development, Female, Ferredoxin-NADP Reductase, Hormones, Humans, Male, Middle Aged, Mitochondria, Molecular Probes, Molecular Sequence Data, Mutation, Testis
Added February 12, 2015
0 Communities
1 Members
0 Resources
17 MeSH Terms
Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency.
Bradshaw KD, Waterman MR, Couch RT, Simpson ER, Zuber MX
(1987) Mol Endocrinol 1: 348-54
MeSH Terms: Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Animals, Base Sequence, Cell Line, Cloning, Molecular, DNA, Humans, Molecular Sequence Data, RNA, Messenger, Restriction Mapping, Sequence Homology, Nucleic Acid, Skin, Steroid 17-alpha-Hydroxylase, Steroid Hydroxylases, Transfection
Added February 12, 2015
0 Communities
1 Members
0 Resources
16 MeSH Terms
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.
Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR
(1988) Mol Cell Endocrinol 59: 249-53
MeSH Terms: Adrenal Cortex, Adrenal Hyperplasia, Congenital, Adult, Aldehyde-Lyases, Amenorrhea, Amino Acid Sequence, Base Sequence, Blotting, Southern, Codon, Cytochrome P-450 Enzyme System, Exons, Female, Humans, Hypertension, Molecular Sequence Data, Mutation, Osteoporosis, Ovary, RNA, Messenger, Steroid Hydroxylases
Added February 12, 2015
0 Communities
1 Members
0 Resources
20 MeSH Terms
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency.
Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR
(1988) Mol Endocrinol 2: 564-70
MeSH Terms: Adrenal Hyperplasia, Congenital, Aldehyde-Lyases, Amino Acid Sequence, Base Sequence, Cytochrome P-450 Enzyme System, DNA, DNA Restriction Enzymes, DNA, Recombinant, Exons, Humans, Introns, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Steroid 17-alpha-Hydroxylase, Steroid Hydroxylases, Structure-Activity Relationship
Added February 12, 2015
0 Communities
1 Members
0 Resources
17 MeSH Terms