Antônio Marcondes Lerário

Non-canonical Wnt signaling triggered by WNT2B drives adrenal aldosterone production

This study identifies WNT2B as a key regulator of adrenal aldosterone production, showing its role in zG function and linking its variants to primary aldosteronism and a new form of familial hypoaldosteronism.

PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder

The paper identifies a second PCNA mutation, C148S, causing PARD, showing both variants have thermo-stability defects leading to reduced chromatin-bound PCNA and temperature-dependent phenotypes.

Zinc transporter somatic gene mutations cause primary aldosteronism

The paper identifies recurrent SLC30A1 mutations in aldosterone-producing adenomas and shows they cause abnormal ion transport leading to aldosterone excess in primary aldosteronism.

Epigenetic regulation of innate immune memory in microglia

The paper investigates how epigenetic changes in microglia influence their response to inflammatory and genotoxic stress, identifying distinct gene networks and functional phenotypes.

Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias

The paper investigates genetic variants in DSD-related genes in SGA children with hypospadias and finds no pathogenic variants in non-syndromic cases.

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

This study identifies DHX37 variants as a novel molecular cause of 46,XY gonadal dysgenesis, particularly in embryonic testicular regression syndrome.