The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It...
Int J Mol Sci - issue: 15 - volume: 23 - pages: 8506.

Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to...
Genes (Basel) - issue: 7 - volume: 13 - pages: 1277.

INTRODUCTION: Pancreatic neuroendocrine neoplasms (PNENs) present with a fibrotic stroma that constitutes the tumor microenvironment (TME). The role played by stromal fibroblasts in the growth of...
Cancers (Basel) - issue: 14 - volume: 14 - pages: .

CONTEXT: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to...
J Clin Endocrinol Metab - issue: 8 - volume: 107 - pages: e3313-e3320.

The mammalian heart arises from various populations of Mesp1-expressing cardiovascular progenitors (CPs) that are specified during the early stages of gastrulation. Mesp1 is a transcription factor...
Nat Cell Biol - issue: - volume: - pages: Epub ahead of print.

Histopathology - issue: 1 - volume: 81 - pages: 133-137.

Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to...
Mol Genet Genomic Med - issue: 7 - volume: 10 - pages: e1954.

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.