E Mendoza-Caamal

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Nonimmunological connective tissue phenotypes in humans are common among some congenital and acquired allergic diseases. Several of these congenital disorders have been associated with either increased TGF-β activity or impaired STAT3 activation, suggesting that these pathways might intersect and that their disruption may contribute to atopy. In this study,(More)
IMPORTANCE Latino populations have one of the highest prevalences of type 2 diabetes worldwide. OBJECTIVES To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships. DESIGN,(More)
BACKGROUND Nuchal translucency is widely used to screen for trisomy 21 in the first trimester of pregnancy. It has also been associated with other chromosomal abnormalities, genetic syndromes and congenital defects. OBJECTIVE To evaluate the perinatal outcome of patients who showed nuchal translucency greater or equal to 95th percentile during the first(More)
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in(More)
Correction: ERBIN deficiency links STAT3 and TGF- pathway defects with atopy in humans J.J. Lyons, Y. Liu, C.A. Ma, X. Yu, M.P. O’Connell, M.G. Lawrence, Y. Zhang, K. Karpe, M. Zhao, A.M. Siegel, K.D. Stone, C. Nelson, N. Jones, T. DiMaggio, D.N. Darnell, E. Mendoza-Caamal, L. Orozco, J.D. Hughes, J. McElwee, R.J. Hohman, P.A. Frischmeyer-Guerrerio, M.E.(More)
Myotonic dystrophy type 1 is caused by expansion of a CTG trinucleotide repeat situated in the DMPK gene. Worldwide genetic studies suggest a single or limited number of mutational events cause the disease. However, distribution of CTG alleles and disease incidence varies among ethnicities. Due to the great ethnic diversity of the Mexican population, the(More)
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated genome-wide protein coding variation in a total of 8,227 individuals with T2D and 12,966 individuals without(More)
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