Publications by authors named "Clara Esteban-Perez"

Bacterial microbiota was determined in fruit, soil, and irrigation water from blueberry ( spp.) farms located in Cundinamarca, Colombia; Mississippi, United States; and Jalisco, Mexico. Bacterial communities were studied using 16S ribosomal ribonucleic acid (rRNA) gene amplification by targeting the V3-V4 hypervariable region.

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Polycystic ovary syndrome (PCOS) is a multifactorial and polygenic endocrine-metabolic disorder in women of reproductive age. SNPs in the gene have been identified as PCOS risk loci. In this study, we evaluated the frequency of five polymorphisms in a sample of Colombian women with PCOS, and their association with clinical and endocrine-metabolic parameters.

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Polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders in women of reproductive age. It is characterized by an increase in the biosynthesis of androgens, anovulation, and infertility. PCOS has been reported as a polygenic entity in which multiple single nucleotide polymorphisms (SNPs) are associated with the clinical features of the pathology.

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Article Synopsis
  • This study examined the chromosomal health of embryos from couples using assisted reproduction techniques (ART) and preimplantation genetic testing for aneuploidies (PGT-A), finding that a high percentage had chromosomal abnormalities.
  • Among embryos from couples using their own eggs and sperm, 67.1% were chromosomally abnormal, whereas 54.5% of embryos from couples using donated gametes were abnormal.
  • The research revealed no significant link between embryo quality, genetic status, or maternal age in relation to aneuploidy rates.
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The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD).

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  • Human reproductive disorders, particularly recurrent pregnancy loss (RPL), preeclampsia (PE), and intra-uterine growth restriction (IUGR), are linked to FOXD1 gene mutations, impacting fertility and women's health.
  • Research involved screening for FOXD1 mutations in 158 patients, identifying nine sequence variants that affect crucial gene regulation related to pregnancy.
  • Findings suggest that FOXD1 mutations play a significant role in the development of RPL, RIF, IUGR, and PE, highlighting its potential as a molecular biomarker for clinical use.
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Recurrent pregnancy loss (RPL) is a reproductive disorder defined as two or more successive and spontaneous pregnancy losses (before 20 weeks of gestation), which affects approximately 1-2% of couples. At present, the causes of RPL remain unknown in a considerable number of cases, leading to complications in treatment and high levels of stress in couples. Idiopathic recurrent pregnancy loss (iRPL) has become one of the more complicated reproductive problems worldwide due to the lack of information about its etiology, which limits the counseling and treatment of patients.

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Recurrent pregnancy loss (RPL) is a frequently occurring disease, which is classified as idiopathic in more than 50% of cases. THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene. In the present study, we have sequenced the complete coding region of THBD in 262 patients affected by RPL.

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BMP15 has drawn particular attention in the pathophysiology of reproduction, as its mutations in mammalian species have been related to different reproductive phenotypes. In humans, BMP15 coding regions have been sequenced in large panels of women with premature ovarian failure (POF), but only some mutations have been definitely validated as causing the phenotype. A functional association between the BMP15 c.

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The ability of embryonic germinal cells (EG) to differentiate into primordial germinal cells (PGCs) and later into gametes during early developmental stages is a perfect model to address our hypothesis about cancer and infertility. This protocol shows how to isolate primordial germinal cells from developing gonads in 10.5-11.

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