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| http://dx.doi.org/10.21037/tp-21-436 | DOI Listing |
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The effects of loss of Y chromosome on male health.
Nat Rev Genet
January 2025
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Loss of Y chromosome (LOY) is the most commonly occurring post-zygotic (somatic) mutation in male individuals. The past decade of research suggests that LOY has important effects in shaping the activity of the immune system, and multiple studies have shown the effects of LOY on a range of diseases, including cancer, neurodegeneration, cardiovascular disease and acute infection. Epidemiological findings have been corroborated by functional analyses providing insights into the mechanisms by which LOY modulates the immune system; in particular, a causal role for LOY in cardiac fibrosis, bladder cancer and Alzheimer disease has been indicated.
View Article and Find Full Text PDFPhenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatr Dermatol
December 2024
Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.
Orphanet J Rare Dis
November 2024
Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neuro-oncologie, Paris, France.
Article Synopsis
- The study aims to enhance understanding of tumor development in patients with Ollier disease (OD) and Maffucci syndrome (MS), focusing on IDH-mutated tumors and their origins.
- It proposes that a single IDH-mutant cell could lead to various tumors due to early embryonic mutations and that not all mutated cells will display the IDH mutant characteristics.
- Additionally, it suggests that specific genetic predispositions (SNPs) may increase the likelihood of developing particular tumors in these patients, linking developmental defects to tumor occurrence.
Segmental Darier's Disease Treated With Cryotherapy.
Cureus
October 2024
Dermatology, Lehigh Valley Health Network, Allentown, USA.
Darier's disease is characterized by pruritic keratotic papules resulting from dysfunctional keratinocyte adhesion. Segmental Darier's is a rare variant thought to be caused by a post-zygotic somatic mutation. The mainstay of treatment consists of oral and topical retinoids and corticosteroids.
View Article and Find Full Text PDFFrom Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.
Am J Med Genet A
November 2024
Pediatric Genetics, Ege University, Izmir, Turkey.
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) is a rare neuroectodermal syndrome caused by somatic mosaic mutations in the RHOA gene. It presents with linear skin hypopigmentation, facial and limb asymmetry, dental and acral anomalies, and leukoencephalopathy, generally preserving intellectual and neurological functions. We report two cases of EDFAOB.
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