Lotte Slenders,Marian Wesseling,Siting Wei et al. Lotte Slenders et al.

Background: Endothelial cells within atherosclerotic plaques can differentiate into a mesenchymal-like phenotype through endothelial-to-mesenchymal transition (EndoMT). Our understanding of the molecular mechanisms underl...

Tiago Oliveira,Ricardo Ferraz,Luísa Azevedo et al. Tiago Oliveira et al.

PMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum....

Mathilde Glénisson,Mathilde Grapin,Thomas Blanc et al. Mathilde Glénisson et al.

Introduction: Denys-Drash syndrome (DDS) is a rare disease typically associated with a triad of early onset nephrotic syndromes (NS), susceptibility to Wilms tumor (WT), and genitourinary structural defects. DDS is caused...

N S Mohd Rizam,M Mustangin,F A Pauzi et al. N S Mohd Rizam et al.

Primary aldosteronism (PA) is a common cause of secondary hypertension characterised by autonomous aldosterone hypersecretion independent of the renin-angiotensin-aldosterone system. Somatic mutations in KCNJ5, CACNA1D, ATP1A1, ATP2B3, and ...

Eloísa Sánchez-Cazorla,Borja Temes-Álvarez,Pilar Oliveros-Martínez et al. Eloísa Sánchez-Cazorla et al.

Background: The UMOD gene encodes the uromodulin protein, which plays a crucial role in renal function. Genetic alterations affecting its correct function are mainly related to Autosomal Dominant Tubulointerstitial Kidney...

Anima Sharma,Ketki Ambulkar,Manjiri Karlekar et al. Anima Sharma et al.

Purpose: Data on pediatric/adolescent von Hippel-Lindau (VHL) disease is sparse, and surveillance/management recommendations rely on expert opinions/extrapolations from adults. We aimed to characterize the childhood/adole...

Galateia Stathori,Eleni Koniari,Dimitrios Vlachakis et al. Galateia Stathori et al.

Background: Pathogenic variants within the gene encoding transforming growth factor β (TGF-β) are responsible for Loeys-Dietz syndrome (LDS), a heritable thoracic aortic disease sharing clinical features with Marfan syn...

Bingyan Shen,Xi Chen,Xiuying Zhu et al. Bingyan Shen et al.

Background: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder caused by genetic mutations. However, the genotype-phenotype correlation remains unclear. This study aime...

Maria C Bolling,Mathilde C S C Vermeer Maria C Bolling

Rei Yasuda,Hirokazu Hashimoto,Mikiko Oka et al. Rei Yasuda et al.

Laminin B1 (LAMB1) is one of the extracellular matrix (ECM) proteins that make up the basement membrane. Early frameshift, late frameshift, and missense variants in LAMB1 have been reported to cause rare monogenic neurological disorders tha...