Aims: Mammalian models have been instrumental in investigating adult heart function and human disease. However, electrophysiological differences with human hearts and high costs motivate the need for...
Cardiovasc Res - issue: - volume: - pages: Online ahead of print..

PURPOSE: To report our experience of endoscopic endonasal obliteration of symptomatic sellar arachnoid cyst (SAC). METHODS: From 2002 to 2019, we retrospectively reported the data of 17 cases of SAC...
Pituitary - issue: - volume: - pages: .

Persistent and ubiquitous organic pollutants, such as the polycyclic aromatic hydrocarbon benzo[⍺]pyrene (BaP), represent a major threat to aquatic organisms and human health. Beside some...
Ecotoxicol Environ Saf - issue: - volume: 226 - pages: 112838..

BACKGROUND: Elevated plasma concentrations of hepatic- and intestinally-derived triglyceride-rich lipoproteins (TRL) are implicated in the pathogenesis of atherosclerotic cardiovascular disease and...
J Clin Lipidol - issue: 5 - volume: 15 - pages: 712-723.

Am J Dermatopathol - issue: 10 - volume: 43 - pages: 759-761.

Ischemic vascular diseases are associated with elevated tissue expression of angiomotin (AMOT), a promising molecular target for PET imaging. On that basis, we developed an AMOT-targeting radiotracer,...
Cells - issue: 9 - volume: 10 - pages: 2305.

The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families...
Eur J Hum Genet - issue: 9 - volume: 29 - pages: 1405-1417.

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

YAP1-NUTM1 fusion transcripts have been recently reported in poroma and porocarcinoma. NUTM1 translocation can be screened by nuclear protein in testis (NUT) immunohistochemistry in various...
Am J Surg Pathol - issue: 9 - volume: 45 - pages: 1221-1227.

The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human Cell Atlas, aims to create a comprehensive reference map of cells during development. This will be critical to...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

The identification of subnetworks of interest—or active modules—by integrating biological networks with molecular profiles is a key resource to inform on the processes perturbed in different cellular...
PLoS Comput Biol - issue: 8 - volume: 17 - pages: e1009263.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: - volume: - pages: .

OBJECTIVE: To report the final long-term safety and efficacy analyses of patients with acromegaly treated with pegvisomant from the ACROSTUDY. DESIGN: Global (15 countries), multicentre,...
Eur J Endocrinol - issue: 4 - volume: 185 - pages: 525-538.

CONTEXT: The behavior of locally advanced pheochromocytoma (LAP) remains unknown. OBJECTIVE: We characterized the population with LAP and recurrence-free survival (RFS). METHODS: This retrospective...
J Clin Endocrinol Metab - issue: 9 - volume: 106 - pages: 2726-2737.

Gene therapy represents a powerful therapeutic tool to treat diseased tissues and provide a durable and effective correction. The central nervous system (CNS) is the target of many gene therapy...
Pharmaceutics - issue: 8 - volume: 13 - pages: .

Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are still limited. We evaluated clinical characteristics and...
Int J Cardiovasc Imaging - issue: - volume: - pages: .

Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator....
Am J Hum Genet - issue: 8 - volume: 108 - pages: 1526-1539.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology - issue: 8 - volume: 3 - pages: 301-314.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.

Surgery of small bowel melanoma metastases has to be reconsidered in the era of targeted treatments and immunotherapy. To retrospectively assess context and outcomes of small bowel melanoma...
Melanoma Res - issue: 4 - volume: 31 - pages: 358-365.