The amount and variety of data have been increasing drastically for several years. These data are often represented as networks and explored with approaches arising from network theory. Recent years...
Communications Physics - issue: 1 - volume: 5 - pages: 170.

PURPOSE OF REVIEW: CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of...
Curr Opin Oncol - issue: 4 - volume: 34 - pages: 342-347.

BACKGROUND: Myostatin and activin A induce muscle wasting by activating the ubiquitin proteasome system and inhibiting the Akt/mammalian target of rapamycin pathway. In chronic kidney disease (CKD),...
Nephrol Dial Transplant - issue: 7 - volume: 37 - pages: 1249-1260.

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We...
Genes (Basel) - issue: 6 - volume: 13 - pages: 1076.

Cushing's syndrome is defined by an endogenous or exogenous hypercortisolism. Increased cortisol, as well as increased androgens will have a negative impact on the pulsatile secretion of GnRH, thus...
Ann Endocrinol (Paris) - issue: 3 - volume: 83 - pages: 188-190.

Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal neoplasms are particularly challenging due to the...
Genes Chromosomes Cancer - issue: 6 - volume: 61 - pages: 382-393.

PURPOSE: To report the effects of pegvisomant (PEGV) treatment on patient-reported outcomes in acromegaly patients. METHODS: We conducted an extension study of an open-label, multinational,...
Pituitary - issue: 3 - volume: 25 - pages: 420-432.

Lancet Diabetes Endocrinol - issue: 6 - volume: 10 - pages: 385-387.

MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of...
Eur J Endocrinol - issue: 1 - volume: 187 - pages: K1-K6.

J Clin Endocrinol Metab - issue: 6 - volume: 107 - pages: e2642-e2643.

PURPOSE: We aimed to identify genomic drivers of glioblastoma inevitable recurrence. METHODS: Ten pairs of initial and recurrent frozen IDHwt glioblastoma samples were screened by CGH Array. Next...
J Neurol Sci - issue: - volume: 436 - pages: 120207.

Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report...
J Hum Genet - issue: 67 - volume: 9 - pages: 515-518.

Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is...
Int J Mol Sci - issue: 9 - volume: 23 - pages: 5205.

De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical...
J Med Genet - issue: 5 - volume: 59 - pages: 505-510.

De novo missense variants in the KCNQ2 gene encoding the Kv7.2 subunit of voltage-gated potassium Kv7/M channels are the main cause of developmental and epileptic encephalopathy with neonatal onset....
J Physiol - issue: 10 - volume: 600 - pages: 2429-2460.

CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to...
J Clin Endocrinol Metab - issue: 5 - volume: 107 - pages: e2056-e2064.

Microvesicles (MVs) have previously been shown to exert profibrinolytic capacity, which is increased in patients with septic shock (SS) with a favorable outcome. We, therefore, hypothesized that the...
Blood - issue: 15 - volume: 139 - pages: 2377-2391.

Purpose of review: Cardiac progenitors are the building blocks of the heart. Our knowledge, on how these progenitors build the heart, has considerably increased over the last two decades with the...
Curr Cardiol Rep - issue: - volume: - pages: .

Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the...
Ann Endocrinol (Paris) - issue: 2 - volume: 83 - pages: 119-141.

Translocations involving FN1 gene have been described in several tumours, which share the presence of a cartilaginous matrix with or without calcifications and a good prognosis. They encompass: soft...
Ann Pathol - issue: 3 - volume: 42 - pages: 242-248.