User profiles for Maria T Tusie-Luna
Ma. Teresa Tusie LunaInvestigador, 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 …
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 …
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 …
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 …
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. …
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 …
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.
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 …
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
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…
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 …
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
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 …
several families affected with AD have identified three genes associated with highly penetrant …