Publications by authors named "Maria Carmen Barboza-Cerda"
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
María Carmen Barboza-Cerda Oralia Barboza-Quintana Gerardo Martínez-Aldape Raquel Garza-Guajardo Miguel Angel Déctor
Mol Genet Genomic Med
September 2019
Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X-linked disease caused by hypomorphic mutations in the EBP (emopamil-binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation.
Methods: We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome.
Article Synopsis
- Pyogenic granuloma is a common non-cancerous growth found in the skin and mucous membranes, especially in children and pregnant women, and has overlapping infection sites with HPV-related warts.
- The study aimed to detect the presence of HPV DNA in 18 pyogenic granuloma samples using polymerase chain reaction (PCR) methods, ensuring samples were free from HPV-related clinical evidence.
- Results showed that 44.4% of samples contained HPV DNA, with HPV-2 identified as the sole type present, suggesting a link between HPV-2 and pyogenic granuloma, akin to its association with non-genital warts.