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Human Oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.
J Clin Invest
January 2025
Laboratory of Genome Dynamics in the Immune, INSERM UMR 116, Équipe Labellisée LIGUE 2023, Paris, France.
Oncostatin M (OSM) is a cytokine with the unique ability to interact with both the OSM receptor (OSMR) and the leukemia inhibitory factor receptor (LIFR). On the other hand, OSMR interacts with IL31RA to form the interleukin-31 receptor. This intricate network of cytokines and receptors makes it difficult to understand the specific function of OSM.
View Article and Find Full Text PDFAnalysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.
Genes Cancer
January 2025
Laboratorio de Interacciones Biomoleculares y Cáncer, Instituto de Física Universidad Autónoma de San Luis Potosí, San Luis Potosí 78210, México.
is a gene that codes for a tumour suppressor protein involved in various types of cancer. It was first described in retinoblastoma and is segregated as an autosomal dominant trait with high penetrance. In 1971, Knudson proposed his hypothesis of the two hits, where two mutational events are required to initiate tumour progression.
View Article and Find Full Text PDFAPOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology.
Mol Neurodegener
January 2025
Department of Neurobiology and Behavior, Charlie Dunlop School of Biological Sciences, University of California, Irvine, CA, 92697-4545, USA.
Background: Apolipoprotein E ε4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD). A recent case report identified a rare variant in APOE, APOE3-R136S (Christchurch), proposed to confer resistance to autosomal dominant Alzheimer's Disease (AD). However, it remains unclear whether and how this variant exerts its protective effects.
View Article and Find Full Text PDFFamilial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.
BMJ Case Rep
January 2025
Department of Respiratory and Critical Care Medicine, The Eighth Affiliated Hospital of Sun Yat-Sen University, Shenzhen, China
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genetic disorder. This case report aims to increase awareness of pulmonary cystic lesions and BHDS in China by providing insights into the clinical features of this syndrome. We present two cases of BHDS from the same family.
View Article and Find Full Text PDF'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
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