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- Folsom, Lisal J.; Hjaige, Mariam; Liu, Jiayan; Eugster, Erica A.; Auchus, Richard J.
- Molecular and cellular endocrinology 2019 v.489 pp. 3-8
- genetic analysis, etc ; biosynthesis; enzymes; female genitalia; females; genes; germ cells; gonadectomy; males; masculinization; mutation; neoplasms; patients; phenotype; puberty; risk; testes; testosterone; Show all 18 Subjects
- ... 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency is an autosomal recessive disorder of male sex development that results in defective testosterone biosynthesis. Although mutations in the cognate HSD17B3 gene cause a spectrum of phenotypic manifestations, the majority of affected patients are genetic males having female external genitalia. Many cases do not present until puberty, at whi ...
- Hayashi, Shohei; Ohtani, Shuji; Godo, Toshiyuki; Nojiri, Yukari; Saki, Yukiko; Esumi, Toshiaki; Kamiya, Hiroshi
- Harmful algae 2019 v.84 pp. 19-26
- genetic analysis, etc ; Fischerella; Phormidium; aquatic ecosystems; biosynthesis; brackish water; enzymes; fisheries; genes; geosmin; internal transcribed spacers; lakes; microorganisms; odors; poisonous algae; ribosomal DNA; ribosomal RNA; Japan; Show all 18 Subjects
- ... Geosmin is an earthy-muddy smelling compound produced in aquatic ecosystems by microorganisms including cyanobacteria. An increase in geosmin levels affecting the local fishery occurred in May 2007 in Lake Shinji, Japan, and geosmin-producing colonial cyanobacterium, Coelosphaerium sp. G2, was isolated from a water sample from the lake and identified. Cyanobacteria Coelosphaerium sp. is commonly f ...