Publications by authors named "M T Magana-Torres"
Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with accounting for about 50% of cases. This study aimed to identify pathogenic variants in Mexican patients with NS to enhance our understanding of the disease in this population.
View Article and Find Full Text PDFThis study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 () gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. The genotype and a recessive pattern of these variants were risk factors for BC ( < 0.
View Article and Find Full Text PDFArticle Synopsis
- A de novo variant c.423+4916 T>C in the ZRS has been identified in a patient with tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS), marking its association with this severe condition.
- The patient, a two-month-old male with distinct physical abnormalities such as preaxial polydactyly and tibial agenesis, was found to be heterozygous for this variant, which neither parent possessed.
- The variant was reclassified from "uncertain significance" to "likely pathogenic" based on genetic criteria, indicating a strong link between the gene variant and the clinical symptoms observed in this case.
Gastric cancer (GC) is the fourth most deadly cancer globally. The adducin 1 (ADD1) protein is involved in oncogenic signal transduction pathways in several types of cancer, and the rs4961 variant (c.1378 G>T, p.
View Article and Find Full Text PDFHigh Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Arch Med Res
April 2024
Introduction: In Mexico, familial hypercholesterolemia (FH) is underdiagnosed, but population screening in small communities where at least one homozygous patient has already been detected results in a useful and inexpensive approach to reduce this problem. Considering that we previously reported nine homozygous cases from the state of Oaxaca, we decided to perform a population screening to identify patients with FH and to describe both their biochemical and genetic characteristics.
Methods: LDL cholesterol (LDLc) was quantified in 2,093 individuals from 11 communities in Oaxaca; either adults with LDLc levels ≥170 mg/dL or children with LDLc ≥130 mg/dL were classified as suggestive of FH and therefore included in the genetic study.