Publications by authors named "A Beckers"
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFPituitary acrogigantism is a very rare disease that is caused by chronic growth hormone (GH) axis excess that begins during childhood and adolescence. As such, it represents one of the most severe manifestations of acromegaly. In most cases, acrogigantism is caused by a pituitary adenoma, but hyperplasia can also accompany the adenoma or rarely occur alone.
View Article and Find Full Text PDFLateral root (LR) formation is a postembryonic organogenesis process that is crucial for plant root system development and adaptation to heterogenous soil environments. Since the early 1990s, a wealth of experimental data on arabidopsis (Arabidopsis thaliana) has helped reveal the LR formation regulatory network, in which dynamic auxin distribution and transcriptional cascades direct root cells through their organogenesis pathway. Some parts of this network appear conserved across diverse plant species or distinct developmental contexts.
View Article and Find Full Text PDFArticle Synopsis
- - X-linked acrogigantism (X-LAG) is a serious genetic condition caused by duplications on chromosome X that affect the GPR101 gene, leading to excessive growth due to misexpression of this gene in the pituitary gland.
- - The researchers used advanced genomic techniques, specifically 4C/HiC-seq, to examine the impact of GPR101 duplications on the functional structure of the genome in families with these duplications, finding that some did not create harmful changes.
- - The study emphasizes the significance of chromatin interactions and boundaries in understanding genetic disorders and demonstrates the utility of 4C/HiC-seq in genetic counseling and clinical decision-making for suspected TADopathies.
Article Synopsis
- * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
- * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.