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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 PDFHistory of the Organisation for Economic Co-operation and Development (OECD) test guidelines for non-animal test methods in Japan.
Genes Environ
January 2025
Department of Pharmaceutical Engineering, Faculty of Engineering, Sanyo-Onoda City University, 1-1-1, Daigaku-dori, Sanyo-Onoda City, 756-0884, Yamaguchi, Japan.
The number of alternatives to animal tests (non-animal test methods) for human health developed globally account for more than 40% of the test methods in the Organisation for Economic Co-operation and Development (OECD) Guidelines for the Testing of Chemicals (TGs). Within the TGs, the National Institute of Health Sciences (NIHS) has standardized 16 OECD TGs for human health, implemented four major revisions, and developed one test method for the International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) S10 guidelines on photosafety. This review describes trends in the OECD and Japan that mainly focus on international standardizations of non-animal test methods for human health.
View Article and Find Full Text PDFAssociation of systemic immune-inflammation index (SII) with risk of psoriasis: a cross-sectional analysis of National Health and Nutrition Examination Survey 2011-2014.
Eur J Med Res
January 2025
The Department of Pediatrics, The Third Xiangya Hospital of Central South University, Changsha, 410013, Hunan, China.
Background: The systemic immune-inflammation index (SII) is an emerging marker of inflammation, and the onset of psoriasis is associated with inflammation. The aim of our study was to investigate the potential impact of SII on the incidence rate of adult psoriasis.
Methods: We conducted a cross-sectional study based on the National Health and Nutrition Examination Survey (NHANES) 2011-2014 data sets.
Periprosthetic femoral fractures in minimally-invasive anterolateral short stem versus transgluteal straight stem cementless total hip arthroplasty: What are the differences in the femoral and pelvic morphology?
J Orthop Surg Res
January 2025
Department for Orthopedics and Traumatology, Kepler University Hospital GmbH, Krankenhausstrasse 9, 4020, Linz, Austria.
Background: The occurrence of periprosthetic femoral fractures (PFFs) in cementless total hip arthroplasty (THA) might be associated with the proximal femoral morphology and the pelvis. PFFs in short stem THA are associated with an increased Canal Flare Index. PFFs in straight stem THA show a decreased Canal Flare Index.
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.
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