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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 ...
Fatty Acid Profile of Mature Red Blood Cell Membranes and Dietary Intake as a New Approach to Characterize Children with Overweight and Obesity
(MDPI, 2020-11-10)
Obesity is a chronic metabolic disease of high complexity and of multifactorial origin. Understanding the effects of nutrition on childhood obesity metabolism remains a challenge. The aim of this study was to determine the ...
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 ...
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
(Frontiers Media, 2020)
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role ...
Liver osteopontin is required to prevent the progression of age-related nonalcoholic fatty liver disease
(Wiley, 2020-07-07)
[EN] Osteopontin (OPN), a senescence-associated secretory phenotype factor, is increased
in patients with nonalcoholic fatty liver disease (NAFLD). Cellular senescence
has been associated with age-dependent hepatosteatosis. ...