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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 861 to 866 of 866

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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.
Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR
(1992) J Clin Endocrinol Metab 74: 667-72
MeSH Terms: Adrenal Hyperplasia, Congenital, Aldehyde-Lyases, Alleles, Amino Acid Sequence, Animals, Arginine, Base Sequence, Blotting, Southern, Cell Line, Child, Cytochrome P-450 Enzyme System, DNA, Disorders of Sex Development, Heterozygote, Humans, Leukocytes, Male, Molecular Sequence Data, Mutation, Oligodeoxyribonucleotides, Polymerase Chain Reaction, Proline, Restriction Mapping, Steroid 17-alpha-Hydroxylase, Threonine, Transfection
Added February 12, 2015
0 Communities
1 Members
0 Resources
26 MeSH Terms
Differential expression of genes encoding TGFs beta 1, beta 2, and beta 3 during murine palate formation.
Pelton RW, Hogan BL, Miller DA, Moses HL
(1990) Dev Biol 141: 456-60
MeSH Terms: Animals, Embryonic and Fetal Development, Female, Gene Expression Regulation, Male, Mice, Mice, Inbred ICR, Nucleic Acid Hybridization, Palate, Pregnancy, RNA, Transforming Growth Factor beta
Added February 17, 2014
0 Communities
1 Members
0 Resources
12 MeSH Terms
Immunohistochemical localization of phosphoenolpyruvate carboxykinase in adult and developing mouse tissues.
Zimmer DB, Magnuson MA
(1990) J Histochem Cytochem 38: 171-8
MeSH Terms: Aging, Animals, Animals, Newborn, Embryonic and Fetal Development, Epithelium, Female, Immunohistochemistry, Liver, Lung, Male, Mice, Microscopy, Neurons, Pancreas, Phosphoenolpyruvate Carboxykinase (GTP), Staining and Labeling, Stomach
Added May 27, 2010
0 Communities
1 Members
0 Resources
17 MeSH Terms
Developmental biology. Another hit for gene targeting.
Wright C, Hogan B
(1991) Nature 350: 458-9
MeSH Terms: Animals, Embryonic and Fetal Development, Genes, Homeobox, Mice, Mice, Mutant Strains
Added June 11, 2010
1 Communities
1 Members
0 Resources
5 MeSH Terms
Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M
(1992) Biochim Biophys Acta 1139: 275-9
MeSH Terms: Adolescent, Adrenal Hyperplasia, Congenital, Aldehyde-Lyases, Amino Acid Sequence, Base Sequence, Cell Line, Cytochrome P-450 Enzyme System, Disorders of Sex Development, Heterozygote, Humans, Male, Molecular Sequence Data, Mutation, Transfection
Added February 12, 2015
0 Communities
1 Members
0 Resources
14 MeSH Terms
Expression and modification of Hox 2.1 protein in mouse embryos.
Wall NA, Jones CM, Hogan BL, Wright CV
(1992) Mech Dev 37: 111-20
MeSH Terms: Animals, DNA-Binding Proteins, Drosophila melanogaster, Embryo, Mammalian, Embryo, Nonmammalian, Embryonic and Fetal Development, Gene Expression, Genes, Homeobox, Homeodomain Proteins, Mice, Mice, Inbred ICR, Mice, Transgenic, Neural Crest, Organ Specificity, Phosphorylation, Protein Processing, Post-Translational, Recombinant Fusion Proteins
Added June 11, 2010
1 Communities
1 Members
0 Resources
17 MeSH Terms