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| http://dx.doi.org/10.4103/ijn.ijn_19_22 | DOI Listing |
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Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.
Sci Rep
December 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, 3012, Switzerland.
Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants.
View Article and Find Full Text PDFRegulatory T cell therapy is associated with distinct immune regulatory lymphocytic infiltrates in kidney transplants.
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Nuffield Department of Surgical Sciences, University of Oxford, Oxford OX3 9DU, UK. Electronic address:
Background: Adoptive transfer of autologous regulatory T cells (Tregs) is a promising therapeutic strategy aimed at enabling immunosuppression minimization following kidney transplantation. In our phase 1 clinical trial of Treg therapy in living donor renal transplantation, the ONE Study (ClinicalTrials.gov: NCT02129881), we observed focal lymphocytic infiltrates in protocol kidney transplant biopsies that are not regularly seen in biopsies of patients receiving standard immunosuppression.
View Article and Find Full Text PDFKnockdown of RASD1 improves MASLD progression by inhibiting the PI3K/AKT/mTOR pathway.
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Department of Hepatobiliary Surgery, The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, Guangdong, 519000, People's Republic of China.
Background: There is still no reliable therapeutic targets and effective pharmacotherapy for metabolic dysfunction-associated steatotic liver disease (MASLD). RASD1 is short for Ras-related dexamethasone-induced 1, a pivotal factor in various metabolism processes of Human. However, the role of RASD1 remains poorly illustrated in MASLD.
View Article and Find Full Text PDFTwo Different Pathogenic Variants in a Family With Neurofibromatosis Type 1.
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFExploring the Venom Gland Transcriptome of and : De Novo Assembly and Analysis of Novel Toxic Proteins.
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Facultad de Ciencias Exactas y Naturales, Pontificia Universidad Católica del Ecuador, Quito 170525, Ecuador.
Previous proteomic studies of viperid venom revealed that it is mainly composed of metalloproteinases (SVMPs), serine proteinases (SVSPs), phospholipase A2 (PLA2), and C-type lectins (CTLs). However, other proteins appear in minor amounts that affect prey and need to be identified. This study aimed to identify novel toxic proteins in the venom gland transcriptome of and , using data from NCBI.
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