Publications by authors named "Tatiana Buitrago"
Background: The MLPA (multiplex ligation dependent probe amplification) technique is currently the test most widely used to detect mutations in the Duchenne/Becker muscular dystrophy (DMD) gene in the initial assessment. However, several studies have suggested that MLPA results require implementing other detection methods due to false duplication. Our aim was to evaluate variables that could alter the peak ratio in MLPA in individuals with Duchenne/Becker muscular dystrophy (DMD/BMD) who present sequence variants at the probe hybridization site, such as the location of sequence variants (SVs), melting temperature of the probe, and the type of variant.
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- - The study investigates the relationship between GnRH neurons and olfactory structures by examining patients with congenital anosmia and arhinia, who lack the ability to smell and have missing olfactory structures.
- - Results showed that while male patients exhibited clear signs of GnRH deficiency, some female patients displayed normal reproductive functions, indicating that olfactory systems may not be essential for GnRH neuron migration and activity.
- - The findings suggest that GnRH neurons can migrate and function independently of olfactory feedback, shedding light on the complexities of human reproductive biology and development.
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.
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