A5103014457- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sperm and Testicular Function
- Renal and related cancers
- CRISPR and Genetic Engineering
- Pluripotent Stem Cells Research
- Reproductive Biology and Fertility
- Hormonal and reproductive studies
- Sexual Differentiation and Disorders
- Immune Response and Inflammation
- Reproductive Health and Technologies
- RNA modifications and cancer
- Reproductive Physiology in Livestock
- Circular RNAs in diseases
- Endoplasmic Reticulum Stress and Disease
- Gender Studies in Language
- Organ Donation and Transplantation
- LGBTQ Health, Identity, and Policy
- Estrogen and related hormone effects
- Reproductive System and Pregnancy
- Sex and Gender in Healthcare
Universidade Federal de São Paulo
2016-2025
Murdoch Children's Research Institute
2023-2025
Hospital São Paulo
2025
Abstract Klinefelter syndrome (KS) is a common sex chromosome aneuploidy affecting one to two per 1000 live male births. Testosterone therapy and neuropsychological support can enhance the quality of life in affected individuals. While cognitive deficits have been documented syndrome, influence hormonal variability on profiles remains underexplored. This study aimed determine whether testosterone levels correlate with neurocognitive functions cross‐sectional involved heterogeneous clinical...
The absence of expression the Y-chromosome linked testis-determining gene SRY in early supporting gonadal cells (ESGC) leads bipotential gonads into ovarian development. However, genetic variants NR2F2, encoding three isoforms transcription factor COUP-TFII, represent a novel cause SRY-negative 46,XX testicular/ovotesticular differences sex development (T/OT-DSD). Thus, we hypothesized that COUP-TFII is part developmental network. known to be expressed interstitial/mesenchymal giving rise...
The NR2F2 gene encodes the transcription factor COUP-TFII, which is upregulated in embryonic mesoderm. Heterozygous variants cause a spectrum of congenital anomalies including cardiac and gonadal phenotypes. We generated heterozygous (MCRIi030-A-1) homozygous (MCRIi030-A-2) NR2F2-knockout induced pluripotent stem cell (iPSC) lines from human fibroblasts using one-step protocol for CRISPR/Cas9 gene-editing episomal-based reprogramming. Both iPSC exhibited normal karyotype, typical morphology,...
Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance X-chromosome gene expression. Thus, inactivation (XCI) pattern X-linked expression were tested correlated with intelligence quotient (IQ) scores. evaluated 11 patients by (a) IQ assessment, (b) analyzing XCI patterns using both HUMARA ZDHHC15 assays, (c) blood RT-qPCR to investigate...
The transcription factor SOX9 plays a critical role in several embryonic developmental processes such as gonadogenesis, chrondrogenesis, and cardiac development. We generated heterozygous (MCRIi031-A-1) homozygous (MCRIi031-A-2) knockout induced pluripotent stem cell (iPSC) lines from human fibroblasts using one-step protocol for CRISPR/Cas9 gene-editing episomal-based reprogramming. Both iPSC exhibit normal karyotype morphology, express pluripotency markers, have the capacity to...
The transcription factor WT1 plays a critical role in several embryonic developmental processes such as gonadogenesis, nephrogenesis, and cardiac development. We generated homozygous (MCRIi031-A-3) knockout induced pluripotent stem cell (iPSC) line from human fibroblasts using one-step protocol for CRISPR/Cas9 gene-editing episomal-based reprogramming. cells exhibit normal karyotype morphology, express pluripotency markers, have the capacity to differentiate into three germ layers. These...
Abstract Background The endoplasmic reticulum (ER) is the central hub for protein quality control, where disulfide isomerases (PDIs), encoded by at least 21 genes, play a pivotal role. These multifunctional proteins contribute to bond formation, proper folding, and modifications, may act as hormone‐binding (e.g., steroids), influencing hormone biology. interplay between ER proteostasis, PDIs, epididymis—a crucial site sperm maturation—remains largely understudied. Objectives This study...
The practice of hormone therapy is crucial in aligning secondary sex characteristics with the gender identity transgender adults. This study examines effects a commonly used injectable combination, specifically estradiol enanthate dihydroxyprogesterone acetophenide (EEn/DHPA), on serum hormonal levels and self-reported satisfaction breast development transwomen. Our research focused retrospective longitudinal involving large cohort transwomen evaluated between 2020 2022, comprising 101...
Abstract The absence of expression the Y-chromosome linked testis-determining gene SRY in early supporting gonadal cells (ESGC) bipotential gonads leads to ovarian development. However, genetic variants NR2F2 /COUP-TFII represent a novel cause -negative 46,XX testicular/ovotesticular differences sex development (T/OT-DSD). Thus, we hy-pothesized that COUP-TFII is part developmental network. We examined and network under its regulation human by analyzing single cell RNA-sequencing datasets...