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ift140-Deficient Zebrafish as a Model for Kidney Cystogenesis and an F0-Based Screen for Genetic Modifiers of Kidney Cysts.
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Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Background: Genetic modifiers are believed to play an important role in the onset and severity of polycystic kidney disease (PKD), but identifying these modifiers has been challenging due to the lack of effective methodologies.
Methods: We generated zebrafish mutants of IFT140, a skeletal ciliopathy gene and newly identified autosomal dominant PKD (ADPKD) gene, to examine skeletal development and kidney cyst formation in larval and juvenile mutants. Additionally, we utilized ift140 crispants, generated through efficient microhomology-mediated end joining (MMEJ)-based genome editing, to compare phenotypes with mutants and conduct a pilot genetic modifier screen.
Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome.
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Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, United Kingdom.
Understanding the genetic causes of diseases affecting pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy and diabetes syndrome (MEDS) is a congenital disorder with two known aetiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking.
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Proc Natl Acad Sci U S A
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Centre for Experimental Medicine & Rheumatology, William Harvey Research Institute and Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
MS4A4A belongs to the MS4A tetraspan protein superfamily and is selectively expressed by the monocyte-macrophage lineage. In this study, we aimed to evaluate the role of MS4A4A+ macrophages in rheumatoid arthritis (RA) pathogenesis and response to treatment. RNA sequencing and immunohistochemistry of synovial samples from either early treatment-naïve or active chronic RA patients showed that MS4A4A expression positively correlated with synovial inflammation.
View Article and Find Full Text PDFClinical-pathological patterns and prognosis of young women with breast cancer brain metastases: a single-center retrospective study.
J Neurooncol
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Sunnybrook Research Institute, University of Toronto, Toronto, ON, Canada.
Purpose: Breast cancer (BC) is the most frequent cancer among women and the second leading cause of central nervous system (CNS) metastases. While the epidemiology of CNS metastases from BC has been well described, little is known about the treatment patterns and outcomes of young women < 40 years of age with BC that is metastatic to the CNS.
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MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.
Metabolomics
September 2025
Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, Angers, France.
Introduction: The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery.
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