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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 PDFDetection of early relapse in multiple myeloma patients.
Cell Div
January 2025
Babak Myeloma Group, Department of Pathophysiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Background: Multiple myeloma (MM) represents the second most common hematological malignancy characterized by the infiltration of the bone marrow by plasma cells that produce monoclonal immunoglobulin. While the quality and length of life of MM patients have significantly increased, MM remains a hard-to-treat disease; almost all patients relapse. As MM is highly heterogenous, patients relapse at different times.
View Article and Find Full Text PDFEvaluation of the role of circular RNA (circ-FAF1) as a diagnostic biomarker for breast cancer in a cohort of Egyptian breast cancer patients.
Mol Biol Rep
January 2025
Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Background: The identification of circulating potential biomarkers may help earlier diagnosis of breast cancer, which is critical for effective treatment and better disease outcomes. We aimed to study the role of circ-FAF1 as a diagnostic biomarker in female breast cancer using peripheral blood samples of these patients, and to investigate the relation between circ-FAF1 and different clinicopathological features of the included patients.
Methods And Results: This case-control study enrolled 60 female breast cancer patients and 60 age-matched healthy control subjects.
Ex vivo electrophysiological evaluation of peripheral nerve functioning following exposition of adult mice to the organophosphorus pesticide chlormephos.
Environ Toxicol Pharmacol
January 2025
Université Paris-Saclay, CEA, Institut des sciences du vivant Frédéric Joliot, Département Médicaments et Technologies pour la Santé (DMTS), Service d'Ingénierie Moléculaire pour la Santé (SIMoS), EMR CNRS/CEA 9004, 91191 Gif-sur-Yvette, France. Electronic address:
The organophosphorus pesticide chlormephos was tested for its potential peripheral neurotoxicity by analyzing the diphasic compound action potential (CAP) of sciatic nerves isolated from adult mice chronically exposed to a sub-lethal dose of this pesticide, compared with control age-matched animals being only exposed to the vehicle. No significant modification was detected between chlormephos-exposed and control groups in their nerve responsiveness to stimulus. Furthermore, similar values of CAP kinetic variables were obtained from the two mouse groups.
View Article and Find Full Text PDFDevelopmental endothelial locus-1 as a potential biomarker for the formation and progression of intracranial aneurysm.
Gene
January 2025
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510000, China; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510000, China; Department of Neurosurgery, Southwest Hospital, Army Medical University, Chongqing 400038, China; Neuroscience and Behavioral Disorders Program, Duke-NUS Medical School, National University of Singapore, Singapore 169857, Singapore. Electronic address:
Background: Intracranial aneurysms (IAs) are pathological dilations occurring at major branch points of cerebral arteries, which can lead to aneurysmal subarachnoid hemorrhage (aSAH) upon rupture. Recent studies have identified developmental endothelial locus-1 (DEL1) as closely associated with IA, though its role remains not fully understood. This study aimed to investigate serum DEL1 level differences in IA patients and explore its function in vascular endothelial cells.
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