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| http://dx.doi.org/10.1002/mdc3.13450 | DOI Listing |
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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFNovel insights into the interaction between IGF2BPs and ncRNAs in cancers.
Cancer Cell Int
December 2024
Department of General Surgery, Affiliated Zhongda Hospital of Southeast University, Nanjing, 210009, China.
Insulin-like growth factor II mRNA-binding proteins (IGF2BPs), a family of RNA-binding proteins, are pivotal in regulating RNA dynamics, encompassing processes such as localization, metabolism, stability, and translation through the formation of ribonucleoprotein complexes. First identified in 1999 for their affinity to insulin-like growth factor II mRNA, IGF2BPs have been implicated in promoting tumor malignancy behaviors, including proliferation, metastasis, and the maintenance of stemness, which are associated with unfavorable outcomes in various cancers. Additionally, non-coding RNAs (ncRNAs), particularly long non-coding RNAs, circular RNAs, and microRNAs, play critical roles in cancer progression through intricate protein-RNA interactions.
View Article and Find Full Text PDFTranscriptomic analysis of pancreatic tissue from humans and mice identifies potential gene signatures and unexplored pathways during progression from acute to chronic pancreatitis.
Gene
December 2024
Translational Research Centre, Asian Healthcare Foundation, AIG Hospitals, Hyderabad, India. Electronic address:
Background: A comprehensive understanding of the molecular pathogenesis of chronic pancreatitis (CP), a fibroinflammatory disorder of the pancreas, is warranted for the development of targeted therapies. The current study focused on comparing the transcriptomes of pancreatic tissues obtained from patients with CP with those of two rodent models of chemically induced CP to identify dysregulated genes/signaling pathways.
Methods: Pancreatitis was induced in mice using cerulein and L-arginine.
U.parvum serovar 6 may be a novel element in the progression of HPV infection to CIN: A cross-sectional study of 7,058 women.
J Infect
December 2024
Microbiome Medicine Centre, Department of Laboratory Medicine, ZhuJiang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Background: Ureaplasma parvum (U. parvum) is generally regarded as innocuous, and studies focusing on variations in pathogenicity among U. parvum serovars are inadequate.
View Article and Find Full Text PDFProgress on HIV and other sexually transmitted infections elimination among youth and adults across BRICS-plus countries: Results from the Global Burden of Disease Study 2021.
J Infect Public Health
December 2024
Department of Global Health, School of Public Health, Peking University, Beijing 100191, China; Institute for Global Health and Development, Peking University, Beijing 100191, China. Electronic address:
Background: Global strategies aim to eradicate HIV and other sexually transmitted infections (STIs) by 2030. We aim to assess HIV and other STIs morbidity trends from 1992 to 2021 across BRICS-plus (Brazil, Russia, India, China, South Africa, Egypt, Ethiopia, Iran, Saudi Arabia, and the United Arab Emirates), which accounts for nearly half of the world population.
Methods: HIV and other STIs morbidity estimates were derived from the Global Burden of Disease Study 2021.
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