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CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.
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Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Li
Primary microcephaly, a rare congenital condition characterized by reduced brain size, occurs due to impaired neurogenesis during brain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly. As CETN3 has not been previously linked to microcephaly, we investigated its potential function in neurodevelopment in human pluripotent stem cell-derived cerebral organoids.
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Shanghai Yao Yuan Biotechnology Ltd (Drug Farm), Shanghai, China.
ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome is a rare genetic disease caused by variants in alpha-kinase 1 (ALPK1) resulting in downstream pro-inflammatory signaling mediated by the TIFA/TRAF6/NF-κB pathway. Here, we report the design of an ALPK1 inhibitor, DF-003, with pharmacokinetic properties suitable for daily oral dosing. In biochemical assays, DF-003 potently inhibits human ALPK1 (IC = 1.
View Article and Find Full Text PDFGeneration of the human iPSC line (AHJNMUi001-A) from a patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) carrying the LMNA c.821C>T pathogenic variant.
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Department of Cardiology, Affiliated Hospital of Jining Medical University, Shandong, China; Shandong Provincial Key Medical and Health Discipline of Cardiology Affiliated Hospital of Jining Medical University, Shandong, China; Key Laboratory of Cell and Biomedical Technology of Shandong Province, C
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary infiltrative cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium, which may extend to the left ventricle in the advanced stages. Clinically, the condition is commonly associated with right ventricular dilation, malignant arrhythmias, and an increased risk of sudden cardiac death. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of ARVC patients carrying a heterozygous LMNA gene mutation (c.
View Article and Find Full Text PDFAn enigmatic tale of macrophages in bone marrow causing inflammation of the brain: A case report on CNS HLH.
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Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Verspeeten Family Cancer Centre, London Health Sciences Centre, London, ON, Canada; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Th
Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune disorder characterized by excessive inflammation and multiorgan involvement. Rarely, HLH can manifest with signs and symptoms isolated to the central nervous system (CNS). This case report highlights the unique clinical course of CNS-isolated HLH in a 19-year-old female who, despite a nine-year delay in diagnosis, achieved disease remission following a hematopoietic stem cell transplant (HSCT).
View Article and Find Full Text PDFMevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
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Division of Pediatric Rheumatology, Department of Pediatrics, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, İstanbul, Türkiye.
Background: We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF).
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Results: Of 33 patients, 51.