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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 PDFLong non-coding RNA Malat1 modulates CXCR4 expression to regulate the interaction between induced neural stem cells and microglia following closed head injury.
Stem Cell Res Ther
January 2025
Department of Neurosurgery, The First Medical Centre, Chinese PLA General Hospital, Beijing, 100853, China.
Background: Closed head injury (CHI) provokes a prominent neuroinflammation that may lead to long-term health consequences. Microglia plays pivotal and complex roles in neuroinflammation-mediated neuronal insult and repair following CHI. We previously reported that induced neural stem cells (iNSCs) can block the effects of CXCL12/CXCR4 signaling on NF-κB activation in activated microglia by CXCR4 overexpression.
View Article and Find Full Text PDFSub-micrometer scale synchrotron x-ray fluorescence measurements of trace elements in teeth compared with laser ablation inductively coupled plasma mass spectrometry.
J Expo Sci Environ Epidemiol
January 2025
Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Background: Elemental analysis of teeth allows for exposure assessment during critical windows of development and is increasingly used to link early life exposures and health. The measurement of inorganic elements in teeth is challenging; laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) is the most widely used technique.
Objective: Both synchrotron x-ray fluorescence (SXRF) and LA-ICP-MS have the capability to measure elemental distributions in teeth with each having distinct advantages and disadvantages.
Intradermal Advanced Glycation End-products Relate to Reduced Sciatic Nerve Structural Integrity in Type 2 Diabetes.
Clin Neuroradiol
January 2025
Department of Endocrinology, Diabetology, Metabolic Diseases and Clinical Chemistry (Internal Medicine 1), Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany.
Background: Cardiovascular risk management is beneficial, but stringent glycemic control does not prevent the progression of distal sensorimotor polyneuropathy (DSPN). Persistent hyperglycemia-induced alterations and cardiovascular factors may contribute to diabetes-associated nerve damage. This study aimed to evaluate the correlation between skin auto-fluorescence (sAF), an indicator of dermal advanced glycation end-product (AGE) accumulations, cardiovascular risk, and changes in peripheral nerve integrity.
View Article and Find Full Text PDFTissue microenvironments are extremely complex and heterogeneous. It is challenging to study metabolic interaction between the different cell types in a tissue with the techniques that are currently available. Here we describe a multimodal imaging pipeline that allows cell type identification and nanoscale tracing of stable isotope-labeled compounds.
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