Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.

Schumacher, Valérie; Gueler, Banu; Looijenga, Leendert H J; Becker, Jan Ulrich; Amann, Kerstin; Engers, Rainer; Dotsch, Joerg; Stoop, Hans; Schulz, Wolfgang; Royer-Pokora, Brigitte

Schumacher, Valérie; Gueler, Banu; Looijenga, Leendert H J; Becker, Jan Ulrich; Amann, Kerstin; Engers, Rainer; Dotsch, Joerg; Stoop, Hans; Schulz, Wolfgang; Royer-Pokora, Brigitte.

Affiliation

Schumacher V; Institute of Human Genetics, Heinrich Heine-University, Duesseldorf, Germany. schumacv@uni-duesseldorf.de

Mol Reprod Dev ; 75(9): 1484-94, 2008 Sep.

Article in En | MEDLINE | ID: mdl-18271004

Subject(s)

Frasier Syndrome/genetics; Gonadal Dysgenesis/complications; High Mobility Group Proteins/genetics; Sex-Determining Region Y Protein/genetics; Testicular Diseases/complications; Transcription Factors/genetics; Adult; Cells, Cultured; Child; DNA Mutational Analysis; Down-Regulation; Frasier Syndrome/complications; Frasier Syndrome/metabolism; Frasier Syndrome/pathology; Genes, Wilms Tumor; Gonadal Dysgenesis/genetics; Gonadal Dysgenesis/metabolism; High Mobility Group Proteins/metabolism; Humans; Lysine/genetics; Male; Mutation; RNA, Messenger/metabolism; SOX9 Transcription Factor; Serine/genetics; Sex-Determining Region Y Protein/metabolism; Spermatogenesis/genetics; Testicular Diseases/genetics; Testicular Diseases/metabolism; Threonine/genetics; Transcription Factors/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Testicular Diseases / Transcription Factors / High Mobility Group Proteins / Frasier Syndrome / Sex-Determining Region Y Protein / Gonadal Dysgenesis Type of study: Prognostic_studies Limits: Adult / Child / Humans / Male Language: En Journal: Mol Reprod Dev Journal subject: BIOLOGIA MOLECULAR / MEDICINA REPRODUTIVA Year: 2008 Type: Article Affiliation country: Germany

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