OBJECTIVE: A relative can be an asset in dealing with chronic illnesses, such as acromegaly, where quality of life (QoL) is altered even after remission. However, it has been shown that quality of...
Eur J Endocrinol - issue: 6 - volume: 185 - pages: K21-K25.

Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial...
BMC Dev Biol - issue: 21 - volume: 14 - pages: .

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.