Publications by authors named "Johanna Alexandra Tejada Moreno"
C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a significant role during vertebrate neurodevelopment. This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development syndromes.We screened different databases (PubMed, Scopus, Google Scholar, LILACS) by systematically searching journals and checking reference lists and citations of background papers.
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- Alzheimer's disease (AD) is projected to increase from 50 million to 152 million cases by 2050, particularly in developing nations like Colombia.
- Researchers conducted whole-exome sequencing on a family with familial AD and identified two rare genetic variants in SORL1 and MTHFD1L, along with other potential risk genes like APOE and ABCA7, indicating a complex inheritance pattern.
- Structural modeling revealed that these variants lead to changes in protein interactions, which may disrupt normal function and contribute to the disease's progression within the family.