Journal ArticleDOI
Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3
Wayne M. Geissler,Daphne L. Davis,Ling Wu,Karen D. Bradshaw,S. Patel,Berenice B. Mendonca,Keith O. Elliston,Jean D. Wilson,David W. Russell,Stefan Andersson +9 more
TLDR
Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites that severely compromised the activity of the 17 β–HSD type 3 isozyme.Abstract:
Defects in the conversion of androstenedione to testosterone in the fetal testes by the enzyme 17β–hydroxysteroid dehydrogenase (17β–HSD) give rise to genetic males with female external genitalia. We have used expression cloning to isolate cDNAs encoding a microsomal 17β–HSD type 3 isozyme that shares 23% sequence identity with other 1 7β–HSD enzymes, uses NADPH as a cofactor, and is expressed predominantly in the testes. The 17βHSD3 gene on chromosome 9q22 contains 11 exons. Four substitution and two splice junction mutations were identified in the 17βHSD3 genes of five unrelated male pseudohermaphrodites. The substitution mutations severely compromised the activity of the 17β–HSD type 3 isozyme.read more
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Dissertation
Modulación metabólica de la oleoil estrona en ratas con sobrepeso
Romero Romero,María del Mar +1 more
TL;DR: In this paper, a ratas Wistar macho with sobrepeso were used to investigate the effect of oleoil estrona on the perdida de grasa corporal.
Best Practice & Research Clinical Endocrinology & Metabolism
Nelson Wohllk,Heiko Schweizer,Zoran Erlic,Kurt Werner Schmid,Martin K. Walz,F. Raue,Hartmut P. H. Neumann +6 more
TL;DR: The status of genetic modelling for hereditary and sporadic endocrine tumourigenesis is discussed with a goal towards providing a view of how this technology will be of future benefit to clinicians developing specifically targeted therapies forendocrine tumours.
Dissertation
Mechanisms in disorders of sex development
TL;DR: The overall aim of this thesis was to identify mechanisms in DSD, in order to better understand normal and atypical sex development, and furthermore to offer better diagnostics and genetic counselling to patients with DSD and their families.
Journal ArticleDOI
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients
TL;DR: A child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic study by whole exome sequencing (WES) and to the identification of a compound heterozygous mutation of the HSD17B3 gene is described.
Journal ArticleDOI
A Liquid Chromatography-UV (LC-UV) Method was Developed for Quantification of Six Potential Impurities in Androstanolone Active Pharmaceutical Ingredient
TL;DR: In this article, a sensitive reverse phase method was developed for the quantitative determination of six potential impurities in Androstanolone active pharmaceutical ingredient, which was validated as per ICH guidelines with respect to specificity, precision, linearity, quantitation limit, detection limit and accuracy.
References
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Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal ArticleDOI
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes.
TL;DR: By analyzing the effects of single base substitutions around the ATG initiator codon in a cloned preproinsulin gene, ACCATGG is identified as the optimal sequence for initiation by eukaryotic ribosomes.
Journal ArticleDOI
Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme.
TL;DR: The structure of the sterol 26-hydroxylase cDNA reveals it to be a mitochondrial cytochrome P-450, and blotting experiments revealed that the mRNA for this enzyme is expressed in many tissues and that it is encoded by a low copy number gene in the rabbit genome.
Journal ArticleDOI
PROSITE : a dictionary of sites and patterns in proteins
TL;DR: A dictionary of sites and patterns found in protein sequences, developed, in the last two years, by the author, which is called PROSITE.
Cloning, structure and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase
TL;DR: In this article, the authors used protein sequencing and molecular cloning techniques to isolate and characterize a cDNA encoding the rabbit mitochondrial sterol 26-hydroxylase, which catalyzes the first step in the oxidation of the side chain of sterol intermediates in the biosynthesis of bile acids.