Carolina Carlosama

ORCID: 0000-0002-8556-1231
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About
Contact & Profiles
Research Areas
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Infant Nutrition and Health
  • Reproductive Biology and Fertility
  • Genetic factors in colorectal cancer
  • Ovarian function and disorders
  • SARS-CoV-2 and COVID-19 Research
  • DNA Repair Mechanisms
  • RNA modifications and cancer
  • Cancer-related molecular mechanisms research
  • Plant Virus Research Studies
  • Molecular Biology Techniques and Applications
  • Transgenic Plants and Applications
  • Neonatal Respiratory Health Research
  • Genetic Syndromes and Imprinting
  • RNA regulation and disease
  • Breastfeeding Practices and Influences
  • Colorectal Cancer Treatments and Studies
  • Cancer, Lipids, and Metabolism
  • Diabetes and associated disorders
  • Gut microbiota and health

IRCCS Humanitas Research Hospital
2024-2025

Pontificia Universidad Javeriana
2023-2024

Universidad del Rosario
2017-2020

Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? WES is an efficient tool study genetic causes of POI as we have identified mutations, some which lead protein destablization contributing the disease etiology. a frequently occurring complex pathology leading infertility. Mutations in only few candidate genes, mainly by Sanger sequencing, been definitively related pathogenesis disease. This...

10.1093/humrep/dex089 article EN Human Reproduction 2017-04-13

Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology POI remains idiopathic most cases. Whole-exome sequencing members Colombian family affected allowed us to identify novel homozygous donor splice-site mutation meiotic gene MSH4 (MutS Homolog 4). The variant followed strict mendelian segregation within was absent...

10.1093/hmg/ddx199 article EN Human Molecular Genetics 2017-05-22

Tumor metabolism is a crucial aspect of cancer development, and mitochondria plays significant role in the aggressiveness metastasis tumors. As result, have become promising therapeutic target treatment, leading to development compounds known as mitocans. In our group, we consolidated search anticancer therapies based on natural products derived from plants, obtaining extracts such P2Et Caesalpinia spinosa Anamu-SC Petiveria alliacea, which been shown antitumor activities different models....

10.1038/s41598-024-70550-z article EN cc-by-nc-nd Scientific Reports 2024-08-31

The Covid-19 infection outbreak led to a global epidemic, and although several vaccines have been developed, the appearance of mutations has allowed virus evade immune response. Added this is existing risk new emerging viruses. Therefore, it necessary explore novel antiviral therapies. Here, we investigate potential

10.1016/j.heliyon.2023.e23403 article EN cc-by-nc-nd Heliyon 2023-12-08
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