Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene : Report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor

Leydig cells and Sertoli cells of the testes produce hormones that cause male differentiation, if receptors are present. The Y chromosomal SRY gene (sex determining Region Y gene) acts as TDF and is required for regular male sex determination. SRY represents a transcription factor belonging to the s...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2000-06, Vol.85 (6), p.2287-2292
Hauptverfasser:	SCHAFFLER, A, BARTH, N, WINKLER, K, ZIETZ, B, RUMMELE, P, KNUCHEL, R, SCHÖLMERICH, J, PALITZSCH, K.-D
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Biological and medical sciences Codon Conserved Sequence DNA-Binding Proteins - chemistry DNA-Binding Proteins - genetics Endodermal Sinus Tumor - genetics Endodermal Sinus Tumor - pathology Female Glutamic Acid Glycine Gonadal Dysgenesis - genetics Gonadal Dysgenesis - pathology Gynecology. Andrology. Obstetrics Humans Karyotyping Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Molecular Sequence Data Mutation, Missense Nuclear Proteins Phenotype Protein Structure, Secondary Sequence Alignment Sequence Homology, Amino Acid Sex Determination Processes Sex-Determining Region Y Protein Transcription Factors X Chromosome Y Chromosome
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