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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 PDFAssociation of serum and local GRP78 and CHOP expressions with disease progression in patients with non-traumatic osteonecrosis of femoral head.
J Orthop Surg Res
January 2025
Linyi People's Hospital postgraduate training base of Guangzhou University of Traditional Chinese Medicine, Linyi, Shandong, 276000, China.
Background: The endoplasmic reticulum stress (ER stress) has been involved in various musculoskeletal disorders including non-traumatic osteonecrosis of femoral head (NT-ONFH).
Objective: The current study aimed to investigate the association of glucose-regulated protein 78 (GRP78) as well as CCAAT/enhancer-binding protein homologous protein (CHOP) expressions in serum and femoral head (FH) tissues with NT-ONFH's severity.
Methods: We enrolled NT-ONFH patients (n = 150) alongside healthy controls (HCs, n = 150).
Dual-OR Logic-Gated Lateral Flow Strip Assay Based on Colorimetric-Fluorescence Dual Indication for Screening of HPV16/18 in Multiple Scenarios.
Anal Chem
January 2025
Center of Clinical Laboratory Medicine, Zhongda Hospital, Medical School of Southeast University, Nanjing 210009, Jiangsu, China.
The incidence of cervical cancer continues to rise in underdeveloped regions due to low human papillomavirus (HPV) vaccination rates and inadequate screening systems. To achieve convenient, rapid, and accurate detection of HPV, we developed a three-wire lateral flow strip assay system based on dual-OR logic gates for rapid and simultaneous detection of HPV subtypes 16 and 18 in a single test. The system combines three-branch-catalytic hairpin assembly (TCHA)-mediated signal amplification with simple OR logic gate-based signal output to improve detection rates while enabling HPV 16/18 subtype identification.
View Article and Find Full Text PDFFacile preparation of iridium-based AIE polymer dots for sensitive electrochemiluminescence immunoassay of CD44 protein.
Anal Chim Acta
March 2025
Key Laboratory of Interfacial Reaction & Sensing Analysis in Universities of Shandong, School of Chemistry and Chemical Engineering, University of Jinan, Jinan, 250022, PR China; Department of Chemistry, Sungkyunkwan University, Suwon, 16419, Republic of Korea. Electronic address:
The development of aggregation-induced emission (AIE) luminophores is a fascinating and promising topic in electrochemiluminescence (ECL) bioanalysis. Herein, the AIE-active but water-insoluble [Ir(bt)₂(acac)] (bt = 2-phenylbenzothiazole, acac = acetylacetonate) was encapsulated within poly(styrene-maleic anhydride) (PSMA) using a simple nanoprecipitation method. This encapsulation strategy could effectively limit the free motion of Ir(bt)₂(acac) and trigger the aggregation-induced electrochemiluminescence (AIECL) effect.
View Article and Find Full Text PDFSensitive fluorescent detection of SARS-CoV-2 RNA using an enzymatic-based method.
Spectrochim Acta A Mol Biomol Spectrosc
January 2025
CICS-UBI - Health Sciences Research Centre University of Beira Interior Covilhã Portugal; RISE-Health, Departamento de Química, Faculdade de Ciências, Universidade da Beira Interior, Rua Marquês d'Ávila e Bolama 6201-001 Covilhã, Portugal; Departamento de Química, Universidade da Beira Interior, Rua Marquês de Ávila e Bolama 6201-001 Covilhã, Portugal. Electronic address:
Rapid, quantitative, and sensitive detection of viral oligonucleotides can help to diagnose the infection before symptoms occur, monitor disease progression, and identify viral subtypes. A one-pot, simple, rapid hairpin-mediated nicking enzymatic signal amplification (HNESA) method was previously developed for nucleic acids detection. In the present work, this method was applied for the detection of SARS-CoV-2 RNA by designing an assistant probe (AP) that contains the complementary sequence for the target, the sequence of hybridization with the loop region of the molecular beacon (MB), and the recognition site of the nicking endonuclease Nt.
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