495,926 results match your criteria genetic data


Impact of environmental chemicals on craniofacial skeletal development: Insights from investigations using zebrafish embryos.

Environ Pollut 2021 Jun 7;286:117541. Epub 2021 Jun 7.

Department of Preventive Medicine, Shantou University Medical College, Shantou, 515041, Guangdong, China; Guangdong Provincial Key Laboratory of Breast Cancer Diagnosis and Treatment, Shantou, 515041, Guangdong, China. Electronic address:

Craniofacial skeletal anomalies are among the most common structural birth defects around the world. Various studies using human populations and experimental animals have shown that genetic and environmental factors play significant roles in the causation and progression of these anomalies. Environmental factors, such as teratogens and toxin mixtures, induce craniofacial anomalies are gaining heightened attention. Read More

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Large variations in disease severity, death and ICU admission of 2993 patients infected with SARS-CoV-2: The potential impact of genetic vulnerability.

J Infect Public Health 2021 Apr 22;14(7):886-891. Epub 2021 Apr 22.

Health Informatics and Smart Health Department, Health Regulation Sector, Dubai Health Authority, Dubai, United Arab Emirates. Electronic address:

Background: The COVID-19 pandemic has had an immeasurable impact, affecting healthcare systems, the global economy, and society. Exploration of trends within the existing COVID-19 data may guide directions for further study and novel treatment development. As the world faces COVID-19 disease, it is essential to study its epidemiological and clinical characteristics further to better understand and aid in its detection and containment. Read More

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Maternal smoking during pregnancy and risks to depression and anxiety in offspring: An observational study and genome-wide gene-environment interaction analysis in UK biobank cohort.

J Psychiatr Res 2021 May 27;140:149-158. Epub 2021 May 27.

Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, China. Electronic address:

Background: Maternal smoking during pregnancy (MSDP) has been reported to be associated with increased anxiety and depression behaviors in offspring. However, there is still scant evidence to support the link between MSDP and anxiety/depression.

Methods: Using the subjects from the UK Biobank cohort (n = 371,903-432,881). Read More

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K channel blockers control glucagon secretion by distinct mechanisms: a direct stimulation of α-cells involving a [Ca] rise and an indirect inhibition mediated by somatostatin.

Mol Metab 2021 Jun 9:101268. Epub 2021 Jun 9.

Université Catholique de Louvain, Institut de Recherche Expérimentale et Clinique, Pôle d'Endocrinologie, Diabète et Nutrition, Brussels, Belgium. Electronic address:

Objective: Glucagon is secreted by pancreatic α-cells in response to hypoglycemia and its hyperglycemic effect helps to restore normal blood glucose. Insulin and somatostatin (SST) secretions from β- and δ-cells, respectively, are stimulated by glucose by mechanisms implicating an inhibition of their ATP-sensitive K (K) channels, leading to an increase in [Ca] that triggers exocytosis. Drugs that close K channels, such as sulfonylureas, are used to stimulate insulin release in type 2 diabetic patients. Read More

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A Generative-Discriminative Framework that Integrates Imaging, Genetic, and Diagnosis into Coupled Low Dimensional Space.

Neuroimage 2021 Jun 9:118200. Epub 2021 Jun 9.

Department of Electrical and Computer Engineering, Johns Hopkins University, USA.

We propose a novel optimization framework that integrates imaging and genetics data for simultaneous biomarker identification and disease classification. The generative component of our model uses a dictionary learning framework to project the imaging and genetic data into a shared low dimensional space. We have coupled both the data modalities by tying the linear projection coefficients to the same latent space. Read More

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Unfolding the Apoptotic Mechanism of Antioxidant Enriched-Leaves of Tabebuia pallida (Lindl.) Miers in EAC Cells and Mouse Model.

J Ethnopharmacol 2021 Jun 9:114297. Epub 2021 Jun 9.

Department of Pharmacy, University of Rajshahi, Rajshahi-6205, Bangladesh. Electronic address:

Ethnopharmacological Relevance: Tabebuia pallida (Lindl.) Miers (T. pallida) is a well-known native Caribbean medicinal plant. Read More

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Description of the Metacercaria of Cardiocephaloides sp. (Digenea, Diplostomoidea), Newly Recorded from the Brain of Gangetic Leaffish (Nandus nandus) and Its Genetic Characterization in India.

Acta Parasitol 2021 Jun 12. Epub 2021 Jun 12.

Molecular Taxonomy Laboratory, Department of Zoology, Chaudhary Charan Singh University, Meerut, 250004, UP, India.

Purpose: Cardiocephaloides comprises strigeid trematodes that represent a small genus. In this study, metacercaria identified as Cardiocephaloides sp. was collected from the Gangetic leaffish Nandus nandus from the Ganga River at Bairaj, Bijnor (29º01'N, 77º45'E) in the state of Uttar Pradesh (U. Read More

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Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing.

Theor Appl Genet 2021 Jun 12. Epub 2021 Jun 12.

National Key Facility for Crop Gene Resources and Genetic Improvement, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing, 100081, China.

Key Message: Large-scale faba bean transcriptome data are available, and the first genotyping platform based on liquid-phase probe targeted capture technology was developed for genetic and molecular breeding studies. Faba bean (Vicia faba L., 2n = 12) is an important food legume crop that is widely grown for multiple uses worldwide. Read More

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MecCog: A knowledge representation framework for genetic disease mechanism.

Bioinformatics 2021 Jun 12. Epub 2021 Jun 12.

Institute for Bioscience and Biotechnology Research, University of Maryland, 9600 Gudelsky Drive, Rockville, MD, 20850, USA.

Motivation: Experimental findings on genetic disease mechanisms are scattered throughout the literature and represented in many ways, including unstructured text, cartoons, pathway diagrams, and network graphs. Integration and structuring of such mechanistic information greatly enhances its utility.

Results: MecCog is a graphical framework for building integrated representations (mechanism schemas) of mechanisms by which a genetic variant causes a disease phenotype. Read More

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Phylogenomic Analysis Reveals Dispersal-Driven Speciation and Divergence with Gene Flow in Lesser Sunda Flying Lizards (Genus Draco).

Syst Biol 2021 Jun 12. Epub 2021 Jun 12.

Museum of Vertebrate Zoology and Department of Integrative Biology, University of California, Berkeley, CA 94720, USA.

The Lesser Sunda Archipelago offers exceptional potential as a model system for studying the dynamics of dispersal-driven diversification. The geographic proximity of the islands suggests the possibility for successful dispersal, but this is countered by the permanence of the marine barriers and extreme intervening currents that are expected to hinder gene flow. Phylogenetic and species delimitation analyses of flying lizards (genus Draco) using single mitochondrial genes, complete mitochondrial genomes, and exome-capture data sets identified 9-11 deeply divergent lineages including single-island endemics, lineages that span multiple islands, and parapatrically-distributed non-sister lineages on the larger islands. Read More

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Mutational signatures in T-lymphocytes of rats treated with N-propyl-N-nitrosourea and procarbazine.

Environ Mol Mutagen 2021 Jun 11. Epub 2021 Jun 11.

Division of Genetic and Molecular Toxicology, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR.

We have used whole genome sequencing (WGS) to determine mutational signatures induced in the T-cells of rats treated in vivo with N-propyl-N-nitrosourea (PNU) or procarbazine (PCZ). The signatures from the treated rats were different from the signature of background mutations. The main component of the spontaneous T-cell mutational signature was C➔T transition with all other single base substitutions evenly distributed. Read More

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Silica and secondary metabolites as chemophenetic markers for characterization of bamboo species in relation to genetic and morphometric analysis.

Mol Biol Rep 2021 Jun 11. Epub 2021 Jun 11.

Environmental Biotechnology and Genomics Division, CSIR-National Environmental Engineering Research Institute, Nehru Marg, Nagpur, 440020, India.

Bamboo is a non-timber forest product and one of the most important grass plants of industrial and domestic use. It is widely distributed in tropical countries including India, China and Southeast Asian countries with wide genetic diversity. The diversity in the available genotypes becomes an important resource for the selection and improvement of the plants for ecological and commercial use. Read More

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Polygenic Risk for Aggression Predicts Adult Substance Use Disorder Diagnoses via Substance Use Offending in Emerging Adulthood and is Moderated by a Family-Centered Intervention.

Behav Genet 2021 Jun 11. Epub 2021 Jun 11.

Department of Psychology, Arizona State University, Tempe, USA.

A substance use offense reflects an encounter with law enforcement and the court system in response to breaking the law which may increase risk for substance use problems later in life. Individuals may also be at risk for substance use offending and substance use problems based on genetic predisposition. We examined a mediation model in which polygenic risk for aggression predicted adult substance use disorder diagnoses (SUD) via substance use offending in emerging adulthood. Read More

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CAPP-seq analysis of circulating tumor DNA from patients with EGFR T790M-positive lung cancer after osimertinib.

Int J Clin Oncol 2021 Jun 11. Epub 2021 Jun 11.

Department of Medical Oncology, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-Sayama, Osaka, 589-8511, Japan.

Background: We here applied cancer personalized profiling by deep sequencing (CAPP-seq) to analysis of circulating tumor DNA (ctDNA) to identify resistance mechanisms in osimertinib-treated patients with EGFR T790M-positive non-small cell lung cancer (NSCLC).

Methods: The study included patients with EGFR activating mutation-positive advanced NSCLC who were positive for T790M in tumor tissue or plasma after previous treatment with an EGFR tyrosine kinase inhibitor, who received osimertinib at Kindai University Hospital between August 2014 and September 2017, and for whom plasma collected after progression on osimertinib was available. Clinical data were extracted from medical records. Read More

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Emamectin benzoate induced enzymatic and transcriptional alternation in detoxification mechanism of predatory beetle Paederus fuscipes (Coleoptera: Staphylinidae) at the sublethal concentration.

Ecotoxicology 2021 Jun 11. Epub 2021 Jun 11.

Hubei Insect Resources Utilization and Sustainable Pest Management Key Laboratory, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, P.R. China.

In this study, the detoxification enzyme activity and the transcriptional profile changes in the second instar through RNA-sequencing technology due to emamectin benzoate (EB) were assessed. The cytochrome P450 monooxygenases (P450) enzyme activity was not altered by EB due to the change in concentration and exposure time in all treatments. The glutathione S-transferase (GST) enzyme was not considerably varying in all treatments, while exposure time significantly changed the enzyme activity. Read More

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NK-/T-cell lymphomas.

Leukemia 2021 Jun 11. Epub 2021 Jun 11.

Department of Hematologic Oncology, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, PR China.

Natural killer/T-cell lymphoma (NKTL) is a sub-type of Epstein-Barr virus (EBV)-related non-Hodgkin lymphomas common in Asia and Latin America but rare elsewhere. Its pathogenesis is complex and incompletely understood. Lymphoma cells are transformed from NK- or T-cells, sometimes both. Read More

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Family history of early onset acute lymphoblastic leukemia is suggesting genetic associations.

Sci Rep 2021 Jun 11;11(1):12370. Epub 2021 Jun 11.

Center for Primary Health Care Research, Lund University, Malmö, Sweden.

Childhood acute lymphoblastic leukemia (ALL) has an origin in the fetal period which may distinguish it from ALL diagnosed later in life. We wanted to test whether familial risks differ in ALL diagnosed in the very early childhood from ALL diagnosed later. The Swedish nation-wide family-cancer data were used until year 2016 to calculate standardized incidence ratios (SIRs) for familial risks in ALL in three diagnostic age-groups: 0-4, 5-34 and 35 + years. Read More

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Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

NPJ Breast Cancer 2021 Jun 11;7(1):76. Epub 2021 Jun 11.

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-risk BC families. This study aims to investigate the monogenic causes underlying the familial aggregation of BC beyond BRCA1 and BRCA2, including the identification of new predisposing genes. A total of 11,511 non-BRCA familial BC cases and population-matched cancer-free female controls in the BEACCON study were investigated in two sequencing phases: 1303 candidate genes in up to 3892 cases and controls, followed by validation of 145 shortlisted genes in an additional 7619 subjects. Read More

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Evidence of the interplay of genetics and culture in Ethiopia.

Nat Commun 2021 Jun 11;12(1):3581. Epub 2021 Jun 11.

Research Department of Genetics, Evolution & Environment, University College London, London, UK.

The rich linguistic, ethnic and cultural diversity of Ethiopia provides an unprecedented opportunity to understand the level to which cultural factors correlate with-and shape-genetic structure in human populations. Using primarily new genetic variation data covering 1,214 Ethiopians representing 68 different ethnic groups, together with information on individuals' birthplaces, linguistic/religious practices and 31 cultural practices, we disentangle the effects of geographic distance, elevation, and social factors on the genetic structure of Ethiopians today. We provide evidence of associations between social behaviours and genetic differences among present-day peoples. Read More

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Polarized endosome dynamics engage cytoplasmic Par-3 that recruits dynein during asymmetric cell division.

Sci Adv 2021 Jun 11;7(24). Epub 2021 Jun 11.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94143, USA.

In the developing embryos, the cortical polarity regulator Par-3 is critical for establishing Notch signaling asymmetry between daughter cells during asymmetric cell division (ACD). How cortically localized Par-3 establishes asymmetric Notch activity in the nucleus is not understood. Here, using in vivo time-lapse imaging of mitotic radial glia progenitors in the developing zebrafish forebrain, we uncover that during horizontal ACD along the anteroposterior embryonic axis, endosomes containing the Notch ligand DeltaD (Dld) move toward the cleavage plane and preferentially segregate into the posterior (subsequently basal) Notch daughter. Read More

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Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.

Brain Dev 2021 Jun 8. Epub 2021 Jun 8.

Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Background: PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. Read More

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Eight novel susceptibility loci and putative causal variants in atopic dermatitis.

J Allergy Clin Immunol 2021 Jun 2. Epub 2021 Jun 2.

Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan; Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan; Department of Applied Genetics, School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan. Electronic address:

Background: Atopic dermatitis (AD) is the most common allergic disease in the world. While genetic components play critical roles in its pathophysiology, a large proportion of its genetic background is still unexplored.

Objectives: This study sought to illuminate the genetic associations with AD using genome-wide association study (GWAS) and its downstream analyses. Read More

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Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.

Cerebellum Ataxias 2021 Jun 11;8(1):15. Epub 2021 Jun 11.

School of Psychology and Public Health, La Trobe University, Melbourne, Bundoora, Victoria, Australia.

Background: Smaller expansions of CGG trinucleotide repeats in the FMR1 X-linked gene termed 'premutation' lead to a neurodegenerative disorder: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) in nearly half of aged carrier males, and 8-16% females. Core features include intention tremor, ataxia, and cognitive decline, and white matter lesions especially in cerebellar and periventricular locations. A 'toxic' role of elevated and expanded FMR1 mRNA has been linked to the pathogenesis of this disorder. Read More

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Molecular characterization of decreased susceptibility to ceftriaxone and genotyping of Neisseria gonorrheae isolates in New Delhi, India.

Diagn Microbiol Infect Dis 2021 May 11;101(1):115423. Epub 2021 May 11.

Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India.

Data on genetic characteristics of Neisseria gonorrhoeae isolates exhibiting decreased susceptibility to extended-spectrum cephalosporins in India is deficient. In this study, we have sequenced penA, porB, mtrR and ponA and bla genes in 70 clinical isolates of NG with varying ceftriaxone MICs. Amongst these, 22 (31. Read More

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Integrated Review of the Assessment of Newborns With Neonatal Abstinence Syndrome.

J Obstet Gynecol Neonatal Nurs 2021 Jun 8. Epub 2021 Jun 8.

Objective: To critically review and summarize current knowledge regarding the assessment of newborns with neonatal abstinence syndrome (NAS).

Data Sources: We searched the following databases for articles on the assessment of newborns with NAS that were published in English between January 2014 and June 2020: PubMed, CINAHL, and PsycINFO. Keywords and Medical Subject Heading terms used to identify relevant research articles included neonatal abstinence syndrome; Finnegan Scale; eat, sleep, console; epigenetics; genetics; pharmacokinetics; and measurement. Read More

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Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.

Am J Hum Genet 2021 Jun 3. Epub 2021 Jun 3.

Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK.

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease 2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used exome sequence data to investigate associations between rare genetic variants and seven COVID-19 outcomes in 586,157 individuals, including 20,952 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome wide or when specifically focusing on (1) 13 interferon pathway genes in which rare deleterious variants have been reported in individuals with severe COVID-19, (2) 281 genes located in susceptibility loci identified by the COVID-19 Host Genetics Initiative, or (3) 32 additional genes of immunologic relevance and/or therapeutic potential. Read More

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Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method.

Ann Hum Genet 2021 Jun 11. Epub 2021 Jun 11.

Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.

Bone mineral density (BMD) and whole-body lean mass (WBLM) are two important phenotypes of osteoporosis and sarcopenia. Previous studies have shown that BMD and lean mass were phenotypically and genetically correlated. To identify the novel common genetic factors shared between BMD and WBLM, we performed the conditional false discovery rate (cFDR) analysis using summary data of the genome-wide association study of femoral neck BMD (n = 53,236) and WBLM (n = 38,292) from the Genetic Factors for Osteoporosis Consortium (GEFOS). Read More

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Heterozygous Variants of CLPB are a Cause of Severe Congenital Neutropenia.

Blood 2021 Jun 11. Epub 2021 Jun 11.

Washington University School of Medicine, St. Louis, Missouri, United States.

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Approximately one-third of cases do not have a known genetic cause. Exome sequencing of 104 persons with congenital neutropenia identified heterozygous missense variants of CLPB (caseinolytic peptidase B) in 5 SCN cases, with 5 more cases identified through additional sequencing efforts or clinical sequencing. Read More

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Molecular characterization of Cryptosporidium spp. from humans in Ethiopia.

PLoS One 2021 11;16(6):e0253186. Epub 2021 Jun 11.

Department of Microbial Cellular and Molecular Biology, Biomedical Sciences Stream Addis Ababa University, Addis Ababa, Ethiopia.

Data on the distribution and genotype of Cryptosporidium species is limited in Ethiopia. This study examined the presence and genetic diversity of Cryptosporidium species circulating in Ethiopian human population. Stool samples collected from patients who visited rural (n = 94) and urban (n = 93) health centers in Wurgissa and Hawassa district, respectively, were examined for the presence of Cryptosporidium spp. Read More

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Renal Mass and Localized Renal Cancer: Evaluation, Management, and Follow-Up: AUA Guideline Part I.

J Urol 2021 Jun 11:101097JU0000000000001911. Epub 2021 Jun 11.

Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Purpose: This AUA Guideline focuses on evaluation/counseling/management of adult patients with clinically-localized renal masses suspicious for cancer, including solid-enhancing tumors and Bosniak 3/4 complex-cystic lesions.

Materials/methods: The Renal Mass and Localized Renal Cancer guideline underwent an update literature review which resulted in the 2021 amendment. When sufficient evidence existed, the body of evidence was assigned a strength rating of A (high), B (moderate), or C (low) for support of Strong, Moderate, or Conditional Recommendations. Read More

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