Publications by authors named "Sandra Rojo"
Human sex-determination is a poorly understood genetic process, where gonad development depends on a cell fate decision that occurs in a somatic cell to commit to Sertoli (male) or granulosa (female) cells. A lack of testis-determination in the human results in 46,XY gonadal dysgenesis. A minority of these cases is explained by mutations in genes known to be involved in sex-determination.
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- SOX8 is a transcription factor involved in sex determination, and while its role in humans isn't fully understood, it is expressed in early gonadal development.
- Research identified SOX8 mutations and chromosomal rearrangements in individuals with 46, XY disorders of sex development (DSD) and male infertility, suggesting a link to reproductive issues.
- SOX8 mutations were found more frequently in infertile men and women with primary ovarian insufficiency, indicating that alterations in SOX8's function could contribute to various reproductive conditions.
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex development; TDSD/OTDSD), due to the presence of the testis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutations in pro-ovarian genes that repress testis development (e.g.
View Article and Find Full Text PDFDMRT transcription factors are deeply conserved regulators of metazoan sexual development. They share the DM DNA-binding domain, a unique intertwined double zinc-binding module followed by a C-terminal recognition helix, which binds a pseudopalindromic target DNA. Here we show that DMRT proteins use a unique binding interaction, inserting two adjacent antiparallel recognition helices into a widened DNA major groove to make base-specific contacts.
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- Recent findings have led to a focus on a specific 78 kb region near the SOX9 gene, which is critical for testis development, revealing duplications related to 46,XX and 46,XY DSD cases.
- In a study of three patients with 46,XX testicular DSD and azoospermia, two brothers were found to have a duplication of about 83.8 kb upstream of SOX9, refining the potential genetic links to 46,XX-SRY negative DSD and suggesting key
Introduction: Imatinib is the standard first-line therapy for advanced gastrointestinal stromal tumor. (18)F-fluorodeoxyglucose PET computed tomography (FDG PET/CT) shows a faster response than computed tomography in nonpretreated patients.
Patients & Methods: After disease progression on imatinib 400 mg, 16 patients were exposed to 800 mg.