The Eker rat is a promising animal model of cancer predisposition syndromes. In this study, using 129 backcross animals, we have established a new conserved linkage group on rat 10q and human 16p13.3 whereby the Eker mutation was found to be tightly linked to the tuberous sclerosis (TSC2) gene. This will be the first step toward the positional cloning and identification of the predisposing Eker mutation.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1006/bbrc.1994.2324 | DOI Listing |
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFMol Syndromol
August 2024
Genetic Diseases Evaluation Center, Konya City Hospital, Konya, Turkey.
Introduction: Prolidase deficiency is a rare multisystemic disease associated with collagen metabolism. Clinical manifestations and age of onset are highly variable. Prolidase deficiency is caused by homozygous variants in the gene.
View Article and Find Full Text PDFHum Pathol
October 2024
Department of Pathology, Institut de Pathologie Multisite, Hospices Civils de Lyon, Hôpital Lyon Sud, Pierre-Bénite, France; University of Lyon, Université Lyon 1, Lyon, France; EMR3738, CICLY, Pierre-Bénite, France. Electronic address:
Aims: Most salivary gland neoplasms are distinguished by specific recurrent gene fusions. Recently, a subset of pleomorphic adenomas (PAs) originated from the parotid gland harboring the HMGA2:WIF1 fusion was described with a canalicular adenoma-like morphology and a greater propensity for recurrence and carcinomatous transformation.
Methods And Results: This study delineates the clinicopathological attributes of 54 cases of PAs exhibiting HMGA2 alterations, predominantly characterized by the HMGA2:WIF1 fusion, alongside a comparative analysis of their morphological and immunohistochemical profiles.
Turk J Haematol
August 2024
İstanbul University, Institute of Graduate Studies in Science, Department of Molecular Biology and Genetics, İstanbul, Türkiye
Objective: It has been shown that clonal mutations occur in hematopoietic stem cells with advancing age and increase the risk of death due to atherosclerotic vascular diseases, similarly to myeloproliferative neoplasms. Endothelial cells (ECs) and hematopoietic stem cells develop from common stem cells called hemangioblasts in the early embryonic period. However, the presence of hemangioblasts in the postnatal period is controversial.
View Article and Find Full Text PDFGenet Test Mol Biomarkers
May 2024
Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the gene. This syndrome is characterized by a wide range of physical and neurological symptoms including dysmorphic features, developmental delay, intellectual disability, and behavioral abnormalities. DESSH was described by DeSanto in 2015, and since then, only a few dozen cases have been reported worldwide.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!