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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFBiodegradation study in FBS media of polycaprolactone patch as a potential prenatal treatment for myelomeningocele.
J Biomater Appl
January 2025
BEST/CB3S, UMR CNRS 7244, Institut Galilée, Université Sorbonne Paris Nord, Villetaneuse, France.
Myelomeningocele (MMC) is a congenital defect of the spine characterized by meningeal and spinal cord protrusion through open vertebral archs, and its exposure to the amniotic fluid. Given that the progression of neuronal loss begins early in fetal life, an early coverage of the defect is required to improve the neurological outcomes. Several studies have proposed patches as an alternative to full surgical repair, to achieve an early protection of the spine and possibly reduce the rate of complications of current prenatal surgical procedures.
View Article and Find Full Text PDFIntergenerational transfer of micro(nano)plastics in different organisms.
J Hazard Mater
January 2025
Stockbridge School of Agriculture, University of Massachusetts, Amherst, MA 01003, USA.
Micro(nano)plastics (MNPs), widely distributed in the environment, can be ingested and accumulated by various organisms. Recently, the transgenerational transport of MNPs from parental organisms to their offspring has attracted increasing attention. In this review, we summarize the patterns, specific pathways, and related mechanisms of intergenerational transfer of MNPs in plants, non-mammals (zooplankton and fish) and mammals.
View Article and Find Full Text PDFHistological differences among thrombi in thrombotic diseases.
Curr Opin Hematol
January 2025
Department of Pathology, Section of Oncopathology and Morphological Pathology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Purpose Of Review: This review aims to summarize the histological differences among thrombi in acute myocardial infarction, ischemic stroke, venous thromboembolism, and amniotic fluid embolism, a newly identified thrombosis.
Recent Findings: Acute coronary thrombi have a small size, are enriched in platelets and fibrin, and show the presence of fibrin and von Willebrand factor, but not collagen, at plaque rupture sites. Symptomatic deep vein thrombi are large and exhibit various phases of time-dependent histological changes.
Maternal sucrose consumption alters steroid levels in the mother, placenta, and fetus.
J Endocrinol
January 2025
K Soma, Psychology, The University of British Columbia, Vancouver, V6T 1Z4, Canada.
Maternal diet has long-term effects on offspring brain development and behavior. Sucrose (table sugar) intakes are high in modern diets, but it is not clear how a maternal high-sucrose diet (HSD) affects the offspring. In rats, a maternal HSD (26% of calories from sucrose, which is human-relevant) alters maternal metabolism and brain and also alters adult offspring endocrinology and behavior in a sex-specific manner.
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