219,459 results match your criteria: "Division of Human Genetics; and VA CT Healthcare Center[Affiliation]"

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.

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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.

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Bulk and Single-Cell Transcriptome Analyses Unravel Gene Signatures of Mitochondria-Associated Programmed Cell Death in Diabetic Foot Ulcer.

J 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.

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Immunohistochemical Analysis of a1-Acid Glycoprotein and Tumor Associated Macrophages in Clear Cell Renal Cell Carcinoma.

Cancer 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.

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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.

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In vivo bioengineered tooth formation using decellularized tooth bud extracellular matrix scaffolds.

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.

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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.

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Genetic Association of Juvenile Idiopathic Arthritis With Adult Rheumatic Disease.

JAMA 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.

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Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.

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.

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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%.

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(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.

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-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.

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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.

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Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.

J 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.

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Venous Endothelial Cell Transcriptomic Profiling Implicates METAP1 in Preeclampsia.

Circ 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.

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Risk factors for isolated congenital heart defects in infants from Western Mexico.

Congenit 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.

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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.

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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.

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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).

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Gram-negative bacteria-driven increase of cytosolic phospholipase A2 leads to activation of Kupffer cells.

Cell Mol Life Sci

December 2024

Department of Internal Medicine and Gastroenterology, Internistisches Klinikum München Süd, Am Isarkanal 36, Munich, Germany.

Article Synopsis
  • Bacterial infections are a major issue for patients with cirrhosis, impacting their overall health due to their role in increasing morbidity and mortality.
  • This study investigates the role of cytosolic phospholipase A2 (cPLA2) in the activation of human Kupffer cells (HKCs) by gram-negative bacteria, specifically looking at how E. coli influences HKC activation through specific signaling pathways.
  • The findings suggest that cPLA2 is crucial for HKC activation in response to E. coli, linking its activity to the regulation by transcription factors STAT3 and RelB via the ERK and non-canonical NF-κB signaling pathways, potentially paving the way for therapeutic strategies in managing bacterial infections in cirrhotic patients
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Interferon-ε loss is elusive 9p21 link to immune-cold tumors, resistant to immune-checkpoint therapy and endogenous CXCL9/10 induction.

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.

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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.

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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.

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Challenges in Describing Tremor and Dystonia.

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.

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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.

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