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A non-conditioned bone marrow transplantation mouse model to study clonal hematopoiesis and myeloid malignancies.
Exp Hematol Oncol
January 2025
Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Clonal hematopoiesis of indeterminate potential (CHIP) is a condition where blood or bone marrow cells carry mutations associated with hematological malignancies. Individuals with CHIP have an increased risk of developing hematological malignancies, atherosclerotic cardiovascular disease, and all-cause mortality. Bone marrow transplantation (BMT) of cells carrying CHIP mutations into irradiated mice are useful procedures to investigate the dynamics of clonal expansion and potential therapeutic strategies, but myeloablative conditioning can induce confounding effects.
View Article and Find Full Text PDFGene expression of psychiatric disorder-related kinesin superfamily proteins (Kifs) is potentiated in alternatively activated primary cultured microglia.
BMC Res Notes
January 2025
Department of Anatomy and Neuroscience, Institute of Medicine, University of Tsukuba, 1-1- 1, Tennodai, Tsukuba, Ibaraki, 305-8577, Japan.
Objective: Reactivity of microglia, the resident cells of the brain, underlies innate immune mechanisms (e.g., injury repair), and disruption of microglial reactivity has been shown to facilitate psychiatric disorder dysfunctions.
View Article and Find Full Text PDFIdentifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation.
Stem Cell Res
January 2025
The University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India; Eyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, India. Electronic address:
Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors.
View Article and Find Full Text PDFGeneration of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1.
Stem Cell Res
January 2025
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers.
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