User profiles for Maria T Tusie-Luna

Ma. Teresa Tusie Luna

Investigador, Instituto de Investigaciones Biomédicas, UNAM. Jefe de Unidad Biología …
Verified email at incmnsz.mx
Cited by 15712

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, C Stevens, BP Thomas, G Tiao, MT Tusie-Luna… - Nature, 2016 - nature.com
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

SCN4B-Encoded Sodium Channel β4 Subunit in Congenital Long-QT Syndrome

…, K Ueda, S Canizales-Quinteros, MT Tusié-Luna… - Circulation, 2007 - Am Heart Assoc
Background— Congenital long-QT syndrome (LQTS) is potentially lethal secondary to malignant
ventricular arrhythmias and is caused predominantly by mutations in genes that encode …

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

…, M Buegeleisen, MT Tusie-Luna… - The Journal of …, 1992 - Am Soc Clin Investig
Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital
adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis was used to …

The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex

KM Curnow, MT Tusie-Luna, L Pascoe… - Molecular …, 1991 - academic.oup.com
The steroid 11β-hydroxylase (P450c11) enzyme is responsible for the conversion of 11-deoxycortisol
to cortisol in the zona fasciculata of the adrenal cortex. Animal studies have …

Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population

…, CA Aguilar-Salinas, MT Tusié-Luna - Diabetes, 2012 - Am Diabetes Assoc
Several studies have identified nearly 40 different type 2 diabetes susceptibility loci, mainly
in European populations, but few of them have been evaluated in the Mexican population. …

[HTML][HTML] Mexican Biobank advances population and medical genomics of diverse ancestries

…, SL Fernández-Valverde, AVS Hill, MT Tusié-Luna… - Nature, 2023 - nature.com
Latin America continues to be severely underrepresented in genomics research, and fine-scale
genetic histories and complex trait architectures remain hidden owing to insufficient data …

[HTML][HTML] Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.

MT Tusie-Luna, P Traktman, PC White - Journal of Biological Chemistry, 1990 - Elsevier
Steroid 21-hydroxylase (P450c21) is absent or defective in more than 90% of patients with
congenital adrenal hyperplasia. This disorder of cortisol biosynthesis occurs in a wide …

A Mutation (Pro-30 to Leu) in CYP21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele

MT Tusie-Luna, PW Speiser, M Dumic… - Molecular …, 1991 - academic.oup.com
The mild nonclassic form of steroid 21-hydroxylase deficiency is one of the most common
autosomal recessive disorders in humans, occurring in almost 1% of Caucasians and about 3…

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.

MT Tusie-Luna, PC White - Proceedings of the National …, 1995 - National Acad Sciences
Most cases of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol,
are caused by mutations in the steroid 21-hydroxylase gene (CYP21). Steroid 21-hydroxylase …

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families

…, MT Villarreal-Molina, A Rasmussen, MT Tusié-Luna… - Neurogenetics, 2006 - Springer
The etiology of Alzheimer’s disease (AD) is complex. To date, molecular genetic studies in
several families affected with AD have identified three genes associated with highly penetrant …