219,459 results match your criteria: "Division of Human Genetics; and VA CT Healthcare Center[Affiliation]"
Sci Rep
December 2024
Division of Research, Innovation, and Economic Development (RIED), Tarleton State University, Stephenville, TX, 76402, USA.
Polycyclic aromatic compounds and petroleum hydrocarbons (PHs) are hazardous pollutants and seriously threaten the environment and human health. However, native microbial communities can adapt to these toxic pollutants, utilize these compounds as a carbon source, and eventually evolve to degrade these toxic contaminants. With this in mind, we isolated 26 bacterial strains from various environmental soil samples.
View Article and Find Full Text PDFCell Death Dis
December 2024
Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, China.
Radiotherapy resistance is one of the main reasons for the dismal clinical outcome of patients with esophageal squamous cell carcinoma (ESCC). Therefore, clarifying the targets and molecular mechanisms of radiotherapy resistance in ESCC is of great theoretical and clinical significance to enhance the efficacy of radiotherapy. In this study, GPR37 was identified as a key factor facilitating ESCC radiosensitization.
View Article and Find Full Text PDFJ Cell Mol Med
December 2024
Department of Orthopedics, Shenshan Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Shanwei, Guangdong, P. R. China.
Mitochondrial programmed cell death (PCD) plays a critical role in the pathogenesis of diabetic foot ulcers (DFU). In this study, we performed a comprehensive transcriptome analysis to identify potential hub genes and key cell types associated with PCD and mitochondria in DFU. Using intersection analysis of PCD- and mitochondria-related genes, we identified candidate hub genes through protein-protein interaction and random forest analysis.
View Article and Find Full Text PDFCancer Genomics Proteomics
December 2024
Department of Cell Pathology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan;
Background/aim: α1-Acid glycoprotein (AGP), also known as orosomucoid, is an acute-phase protein that has been found increased in plasma of cancer patients. This study investigates the role of AGP expression in clear cell renal cell carcinoma (ccRCC) and its association with clinical outcomes.
Materials And Methods: We investigated the correlation between AGP levels and the prognosis of ccRCC through an analysis of The Cancer Genome Atlas (TCGA) database.
Cancer Genomics Proteomics
December 2024
Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, R.O.C.;
Background/aim: The disruption of cell-cycle control can lead to an imbalance in cell proliferation, often accompanied by genomic instability, which in turn can facilitate carcinogenesis. This study aimed to examine the impact of CDKN1A rs1801270 and rs1059234 polymorphisms on the risk of childhood acute lymphocytic leukemia (ALL) in Taiwan.
Materials And Methods: The genotypes of CDKN1A rs1801270 and rs1059234 in 266 childhood ALL cases and 266 controls were determined using PCR-RFLP techniques.
Stem Cells Transl Med
December 2024
Department of Orthodontics, Division of Craniofacial and Molecular Genetics, Tufts University School of Dental Medicine, Boston, MA 02111, United States.
The use of dental implants to replace lost or damaged teeth has become increasingly widespread due to their reported high survival and success rates. In reality, the long-term survival of dental implants remains a health concern, based on their short-term predicted survival of ~15 years, significant potential for jawbone resorption, and risk of peri-implantitis. The ability to create functional bioengineered teeth, composed of living tissues with properties similar to those of natural teeth, would be a significant improvement over currently used synthetic titanium implants.
View Article and Find Full Text PDFClin Transl Gastroenterol
December 2024
Department of Pharmacology, Penn State College of Medicine, Hershey, Pennsylvania, USA.
Introduction: Hypoalgesic inflammatory bowel disease (IBD) may provide critical insights into human abdominal pain. This condition was previously associated with homozygosity for a polymorphism (rs6795970, A1073V; 1073 val/val ) related to Na v 1.8, a voltage-gated sodium channel preferentially expressed on nociceptors.
View Article and Find Full Text PDFJAMA Netw Open
December 2024
Department of Cell Biology, The Province and Ministry Cosponsored Collaborative Innovation Center for Medical Epigenetics, Key Laboratory of Immune Microenvironment and Disease (Ministry of Education), Tianjin Key Laboratory of Medical Epigenetics, Tianjin Institute of Immunology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin, China.
Importance: Patients with juvenile idiopathic arthritis (JIA) may develop adult rheumatic diseases later in life, and prolonged or recurrent disease activity is often associated with substantial disability; therefore, it is important to identify patients with JIA at high risk of developing adult rheumatic diseases and provide specialized attention and preventive care to them.
Objective: To elucidate the full extent of the genetic association of JIA with adult rheumatic diseases, to improve treatment strategies and patient outcomes for patients at high risk of developing long-term rheumatic diseases.
Design, Setting, And Participants: In this genetic association study of 4 disease genome-wide association study (GWAS) cohorts from 2013 to 2024 (JIA, rheumatoid arthritis [RA], systemic lupus erythematosus [SLE], and systemic sclerosis [SSc]), patients in the JIA cohort were recruited from the US, Australia, and Norway (with a UK cohort included in the meta-analyzed cohort), while patients in the other 3 cohorts were recruited from US and Western European countries.
J Mol Neurosci
December 2024
Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.
Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, with or without balloon cells. Here, we systematically explored the pathophysiological role of the GATOR1 subunit NPRL3 variants including a novel mutation from iPSCs derived from one FCD II patient. Three FCD II children aged 0.
View Article and Find Full Text PDFToxins (Basel)
December 2024
Immunopathology Laboratory, Butantan Institute, São Paulo 05585-090, Brazil.
Jararhagin-C (JarC) is a protein from the venom of consisting of disintegrin-like and cysteine-rich domains. JarC shows a modulating effect on angiogenesis and remodeling of extracellular matrix constituents, improving wound healing in a mouse experimental model. JarC is purified from crude venom, and the yield is less than 1%.
View Article and Find Full Text PDFJ Dev Biol
December 2024
Department of Pathology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
(1) Background: The exact etiology for gastroschisis, the most common abdominal defect, is yet to be known, despite the rising prevalence of this condition. The leading theory suggests an increased familial risk, indicating a possible genetic component possibly in the context of environmental risk factors. This systematic review aims to summarize the studies focused on the identification of a potential genetic etiology for gastroschisis to elucidate the status of the field.
View Article and Find Full Text PDFCurr Issues Mol Biol
December 2024
Department of Urology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8556, Japan.
-rearranged Renal Cell Carcinoma (TFE3-RCC) is an aggressive subtype of RCC characterized by Xp11.2 rearrangement, leading to TFE3 fusion proteins with oncogenic potential. Despite advances in understanding its molecular biology, effective therapies for advanced cases remain elusive.
View Article and Find Full Text PDFCurr Oncol
December 2024
Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
STIL is a regulatory protein essential for centriole biogenesis, and its dysregulation has been implicated in various diseases, including malignancies. However, its role in non-small-cell lung carcinoma (NSCLC) remains unclear. In this study, we examined STIL expression and its potential association with chromosomal numerical abnormalities (CNAs) in NSCLC using The Cancer Genome Atlas (TCGA) dataset, immunohistochemical analysis, and in vitro experiments with NSCLC cell lines designed to overexpress STIL.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center+, Maastricht, The Netherlands.
Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.
View Article and Find Full Text PDFCirc Res
December 2024
Cardiovascular Research Center, Massachusetts General Hospital, Boston. (C.C., P.X., Z.Y., Y.S., E.S.L., J.D.R., M.C.H.).
Background: Preeclampsia is a hypertensive disorder of pregnancy characterized by systemic endothelial dysfunction. The pathophysiology of preeclampsia remains incompletely understood. This study used human venous endothelial cell (EC) transcriptional profiling to investigate potential novel mechanisms underlying EC dysfunction in preeclampsia.
View Article and Find Full Text PDFCongenit Anom (Kyoto)
December 2024
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case-control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009-2023 at the Hospital Civil de Guadalajara "Dr. Juan I.
View Article and Find Full Text PDFMedeni Med J
December 2024
Akdeniz University School of Medicine, Departmant of Medical Biology and Genetics, Antalya, Turkey.
Objective: Chronic kidney disease (CKD) is a prominent public health concern, is defined as functional and structural damage to the kidneys. This study aims to investigate the association between human leukocyte antigen (HLA) alleles individuals with CKD and the different etiological subgroups of diesease.
Methods: Genomic DNA was obtained from peripheral blood samples of 1,079 patients with retrospective CKD and 1,111 healthy control individuals.
Discov Med
December 2024
Department of Cardiology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, 330006 Nanchang, Jiangxi, China.
Background: Atherosclerosis, a chronic inflammatory condition characterized by the accumulation of lipid and fibrous elements in the arterial wall, is a major contributor to cardiovascular disease. This study aimed to investigate the regulation of apoptosis and cellular aging in human umbilical vein endothelial cells by Thousand and One Amino Acid Kinase 1 (TAOK1) via Cell division cycle 20 () in the context of atherosclerosis.
Methods: The study evaluated the impact of TAOK1 on Oxidized low-density lipoprotein (ox-LDL)-induced changes in cell viability, angiogenesis, cell senescence, apoptosis, cell cycle arrest, and related signaling pathways in human umbilical vein endothelial cells (HUVECs) using Cell Counting Kit-8, β-galactosidase staining, flow cytometry, and western blot.
Genes Cells
January 2025
Department of Experimental Animal Model for Human Disease, Institute of Science Tokyo, Tokyo, Japan.
Sox17 is a key transcriptional regulator of endoderm formation and function in the gallbladder, blood vessels and reproductive organs. Although multiple transcript variants of Sox17 have been suggested, the precise mechanisms underlying their time- and tissue-specific expression remain unclear. In this study, we discovered two putative regulatory sequences (R1 and R2) adjacent to different transcription start sites of mouse Sox17 exon 1 and generated deletion mice for these regions (Sox17).
View Article and Find Full Text PDFCell Mol Life Sci
December 2024
Department of Internal Medicine and Gastroenterology, Internistisches Klinikum München Süd, Am Isarkanal 36, Munich, Germany.
J Thorac Oncol
December 2024
Moores Cancer Center, University of California San Diego, La Jolla, CA 92037, USA; Department of Medicine, University of California San Diego, La Jolla, CA 92037, USA; Department of Thoracic/Head and Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Introduction: Copy-number (CN) loss of chromosome 9p, or parts thereof, impair immune response and confer ICT resistance by direct elimination of immune-regulatory genes on this arm, notably IFNγ genes at 9p24.1, and type-I interferon (IFN-I) genes at 9p21.3.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFProbl Radiac Med Radiobiol
December 2024
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 9609 Medical Center Drive, Bethesda, MD 20892, USA.
Objective: Scientific justification of the methodology for calculating radiation internal doses from 137Cs and 134Cs intake for residents of Ukrainian settlements radioactively contaminated as a result of the Chornobyl (Chernobyl) accident in which measurements of incorporated radiocesium isotopes in humans using whole-body counters (WBC) were not carried out.
Materials And Methods: The paper presents a new methodology for reconstructing doses due to internal irradiation from Chornobyl fallout for both surface (in 1986) and root (in 1987-2023) contamination of vegetation with 137Cs and 134Cs and their transfer into the human body. The methodology for calculating the dose due to surface contamination of vegetation was based on the theoretical model of the transfer of radiocesium isotopes through the food chain with further adjustment of this model to the results of WBC measurements carried out between 15 July and 31 December 1986.
Neurology
January 2025
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA.
Tremor is defined as an oscillatory and rhythmical movement. By contrast, dystonia is defined by sustained or intermittent abnormal postures, repetitive movements, or both. Tremor and dystonia often coexist in the same individual.
View Article and Find Full Text PDFPLoS One
December 2024
Clínica Colsanitas and Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
Background: Despite declining COVID-19 incidence, healthcare workers (HCWs) still face an elevated risk of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection. We developed a diagnostic multivariate model to predict positive reverse transcription polymerase chain reaction (RT-PCR) results in HCWs with suspected SARS-CoV-2 infection.
Methods: We conducted a cross-sectional study on episodes involving suspected SARS-CoV-2 symptoms or close contact among HCWs in Bogotá, Colombia.