Human male sex determination and sexual differentiation: pathways, molecular interactions and genetic disorders.
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Summary
The mechanisms, which lead to differentiation of male sex and ways by which the determination and differentiation may be interrupted by naturally occurring mutations, causing different syndromes and diseases are described.
- Type
- article
- Published
- 2005-01-01
- Cited by
- 25
- References
- 31
- OpenAlex
- https://openalex.org/W205873156
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:21445894
Keywords
Sexual differentiation, Biology, Hormone, Disorders of sex development, Gene
References
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- Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.
- Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3
- The roles of steroidogenic factor 1 in endocrine development and function.
Cited by
- THE GENETICS OF MALE INFERTILITY: A FIELD OF STUDY WHOSE TIME IS NOW
- Androgen receptor gene trinucleotide repeats as a marker for tracing disease in a family with intersex patients
- Prenatal Exposures of Male Rats to the Environmental Chemicals Bisphenol A and Di(2-Ethylhexyl) Phthalate Impact the Sexual Differentiation Process.
- Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys–Drash syndrome
- Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report.
- A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis
- X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions
- Differentiated evolutionary conservatism and lack of polymorphism of crucial sex determination genes (SRY and SOX9) in four species of the family Canidae.
- Differential Diagnosis of Disorders of Sex Development (DSD) by Molecular Genetic Analyses
- Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome
- Fetal testosterone and empathy: Evidence from the Empathy Quotient (EQ) and the “Reading the Mind in the Eyes” Test
- Intersexo. I - Genes envolvidos na determinação do sexo masculino
- IMAGING OF A CHILD WITH AMBIGUOUS GENITALIA
- Short communication Androgen receptor gene trinucleotide repeats as amarker for tracing disease in a family with intersex patients
- Expression of steroidogenic enzymes and steroid receptors in foetal gonads of domestic cat-Sex similarities and differences.
- Sex discordance identification following non‐invasive prenatal testing
- The Diagnostic Value of Combined Conventional MRI and Diffusion Weighted MRI in Diagnosis of Non-Palpable Undescended Testes
- The evolution and possible role of two Sox8 genes during sex differentiation in Japanese flounder (Paralichthys olivaceus)
- Prenatal exposures to bisphenol A and di (2-ethylhexyl) phthalate disrupted seminiferous tubular development in growing male rats.
- The Risk of Malignant Degeneration of Müllerian Derivatives in PMDS: A Review of the Literature
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