Publications by authors named "M Teresa Villarreal-Molina"
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (/Arg690Cys).
Int J Mol Sci
November 2022
Article Synopsis
- The study investigates the variability in clinical symptoms of dilated cardiomyopathy (DCM) among individuals with the same genetic mutation affecting lamin AC and LAP2α proteins.
- *Researchers identified a DCM patient with both a lamin AC mutation and a common LAP2α polymorphism, highlighting their potential combined effects on the disease.
- *Advanced modeling and microscopy revealed that the LAP2α polymorphism alters nuclear shapes, indicating it might influence disease severity and symptom expression in dilated cardiomyopathy.
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in , , and account for most cases (~90%). This study evaluated the chromosomal, molecular, and physical phenotypic findings of a novel founder PV, identified in three patients with FA from the community of Oaxaca, Mexico.
View Article and Find Full Text PDFInteraction of HLA Class II rs9272219 and rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population.
Front Genet
July 2021
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin () has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity.
View Article and Find Full Text PDFArticle Synopsis
- Dilated cardiomyopathy (DCM) is a leading cause of heart failure in young adults, and next generation sequencing (NGS) has been used to diagnose idiopathic and familial DCM, although challenges remain in underrepresented populations.
- A study involving 55 Mexican DCM patients found an overall diagnostic yield of 47.3%, higher for familial cases (63.6%) compared to idiopathic cases (36.4%), with many identified variants being novel.
- This study is significant as it's the first of its kind in Mexico, enhancing the understanding of the genetic variations associated with DCM in this population and paving the way for better diagnosis and treatment strategies.
Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included.
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