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Iodine Deficiency and Mortality in Spanish Adults: Di@bet.es Study
(Mary Ann Liebert, 2021-01-01)
Background:Longitudinal data assessing the impact of iodine deficiency (ID) on mortality are scarce. We aimed to study the association between the state of iodine nutrition and the risk of total and cause-specific mortality ...
Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
(Public Library Science, 2020-09-30)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ...
Five Patients with Disorders of Calcium Metabolism Presented with GCM2 Gene Variants
(Nature, 2021-02-03)
The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients ...
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1
(MDPI, 2020-11-13)
Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic ...
Incidence of Diabetes Mellitus and Associated Risk Factors in the Adult Population of the Basque Country, Spain
(Nature, 2021-02-04)
The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous ...
Transcription Factor Binding Site Enrichment Analysis In Co-Expression Modules In Celiac Disease
(MDPI, 2018-05-10)
The aim of this study was to construct celiac co-expression patterns at a whole genome level and to identify transcription factors (TFs) that could drive the gliadin-related changes in coordination of gene expression ...
Erythrocyte Membrane Nanomechanical Rigidity Is Decreased in Obese Patients
(MDPI, 2022-02-08)
This work intends to describe the physical properties of red blood cell (RBC) membranes in obese adults. The hypothesis driving this research is that obesity, in addition to increasing the amount of body fat, will also ...