1,510 results match your criteria region atm


The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.

Blood Adv 2021 Oct 12. Epub 2021 Oct 12.

Belgian Cancer Registry, Brussels, Belgium.

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem-cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in a substantial proportion of cases to acute myeloid leukemia. The deletion of the long arm of chromosome 11, del(11q), is a rare but recurrent clonal event in MDS. Here, we detail the largest series of 113 cases of MDS and myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring a del(11q) analyzed at clinical, cytological, cytogenetic and molecular levels. Read More

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October 2021

An Adenovirus early region 4 deletion mutant induces G2/M arrest via ATM activation and reduces expression of the mitotic marker phosphorylated (ser10) histone 3.

Virology 2021 Sep 27;565:1-12. Epub 2021 Sep 27.

Department of Microbiology Miami University, Oxford, Ohio, USA; Cell Molecular and Structural Biology Program, Miami University Oxford, Ohio, USA. Electronic address:

Adenovirus (Ad) type 5 (Ad5) early region 4 (E4) proteins inhibit the DNA damage response (DDR) including activation of the DDR kinase ATM and its substrates, which can induce G2/M cell cycle arrest. Infection with Ad5 or the E4 deletion mutant H5dl1007 (1007) resulted in the accumulation of post G1 cells with > 2 N cellular DNA content. A greater fraction of cells with 4 N DNA content was observed in 1007 infections compared to Ad5; this population was dependent on activation of ATM. Read More

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September 2021

Dual-logarithmic demodulation method application in a wide gas optical thickness range.

Appl Opt 2021 Sep;60(26):8206-8212

Direct absorption spectroscopy (DAS) is an extremely practical and effective technology to detect gas concentration in site applications. Dual-beam subtraction is one of the most common demodulation methods in DAS, yet this method cannot solve the problem of absolute absorption curve nonlinearization in a wide optical thickness range. A real-time and practical dual-logarithmic demodulation method is proposed and proved to be robust when the optical thickness is much greater than linear region. Read More

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September 2021

A complex of BRCA2 and PP2A-B56 is required for DNA repair by homologous recombination.

Nat Commun 2021 09 30;12(1):5748. Epub 2021 Sep 30.

The Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, 2200, Copenhagen, Denmark.

Mutations in the tumour suppressor gene BRCA2 are associated with predisposition to breast and ovarian cancers. BRCA2 has a central role in maintaining genome integrity by facilitating the repair of toxic DNA double-strand breaks (DSBs) by homologous recombination (HR). BRCA2 acts by controlling RAD51 nucleoprotein filament formation on resected single-stranded DNA, but how BRCA2 activity is regulated during HR is not fully understood. Read More

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September 2021

The multifaceted regulation of mitophagy by endogenous metabolites.

Autophagy 2021 Sep 29:1-24. Epub 2021 Sep 29.

State Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.

Owing to the dominant functions of mitochondria in multiple cellular metabolisms and distinct types of regulated cell death, maintaining a functional mitochondrial network is fundamental for the cellular homeostasis and body fitness in response to physiological adaptations and stressed conditions. The process of mitophagy, in which the dysfunctional or superfluous mitochondria are selectively engulfed by autophagosome and subsequently degraded in lysosome, has been well formulated as one of the major mechanisms for mitochondrial quality control. To date, the PINK1-PRKN-dependent and receptors (including proteins and lipids)-dependent pathways have been characterized to determine the mitophagy in mammalian cells. Read More

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September 2021

Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes (Basel) 2021 Sep 18;12(9). Epub 2021 Sep 18.

Unit of Immunotherapy, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Venezian 1, 20133 Milan, Italy.

The MITF-E318K variant has been implicated in genetic predisposition to cutaneous melanoma. We addressed the occurrence of MITF-E318K and its association with germline status of CDKN2A and MC1R genes in a hospital-based series of 248 melanoma patients including cohorts of multiple, familial, pediatric, sporadic and melanoma associated with other tumors. Seven MITF-E318K carriers were identified, spanning every group except the pediatric patients. Read More

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September 2021

Methylation of , a key ERK signaling regulator, is a novel synthetic lethality marker of ATM inhibitors in human lung cancer.

Epigenomics 2021 Sep 24;13(17):1403-1419. Epub 2021 Sep 24.

Department of Gastroenterology & Hepatology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853, China.

The role of methylation in lung cancer and its therapeutic application remains unclear. Nine lung cancer cell lines and 123 cases of cancer tissue samples were employed. was methylated in 53. Read More

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September 2021

hsa_circ_0000006 induces tumorigenesis through miR-361-3p targeting immunoglobulin-like domains protein 1 (LRIG1) in osteosarcoma.

Ann Transl Med 2021 Aug;9(15):1242

Department of Orthopaedics, General Hospital of Chinese People's Liberation Army, Beijing, China.

Background: Osteosarcoma (OS) is considered to be the most highly prevalent bone tumor. In the progression of different human cancers, the role of circular RNAs (circRNAs) has been extensively studied. Microarray analysis has indicated that hsa_circ_0000006 expression was lower in OS, but the mechanism of hsa_circ_0000006 in regulating the progression of OS remains elusive. Read More

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Malignant mixes: The overlap of motor vehicle crashes and crime in Stockholm, Sweden.

Accid Anal Prev 2021 Oct 13;161:106361. Epub 2021 Sep 13.

Department of Urban Planning & Environment, KTH Royal Institute of Technology, Stockholm, Sweden.

Places that concentrate both motor vehicle crashes and crime in Stockholm, Sweden were examined for common socio-economic, land use, and neighborhood characteristics. Using vehicle crash (N = 3,700) and non-traffic crime (N = 605,052) data from 2016 to 2018, hot spots of these two sets of events and their overlap were identified. Crash hot spots captured 14% of the crashes in only 0. Read More

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October 2021

Cisplatin Resistance in Epstein-Barr-Virus-Associated Gastric Carcinoma Acquired through Methylation.

Cancers (Basel) 2021 Aug 24;13(17). Epub 2021 Aug 24.

Vessel-Organ Interaction Research Center, VOICE (MRC), Cancer Research Institute, College of Pharmacy, Kyungpook National University, Daegu 41566, Korea.

Epstein-Barr-virus-associated gastric carcinoma (EBVaGC), first reported in 1992, currently accounts for 10% of all gastric carcinoma worldwide. EBVaGC has unique DNA hypermethylation phenotypes that allow for higher proportions of DNA methylation than any other gastric cancer. CpG islands in the gene promoter region are one of the major regions in which DNA methylation controls gene transcription. Read More

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Fatal rapidly progressive interstitial lung disease in a patient with amyopathic dermatomyositis.

Ann Thorac Med 2021 Jul-Sep;16(3):294-298. Epub 2021 Jul 20.

Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Interstitial lung disease (ILD) is a well-established common manifestation of idiopathic inflammatory myopathies. Yet, till now, the pathogenetic mechanisms are still poorly understood, classification is evolving and prognosis is variable. A refractory and rapidly progressive ILD (RPILD) that is associated with dermatomyositis (DM) with minimal muscle weakness and normal creatine kinase (termed clinically amyopathic DM) is increasingly being recognized, with more incidence in Asians. Read More

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An insight into understanding the coupling between homologous recombination mediated DNA repair and chromatin remodeling mechanisms in plant genome: an update.

Cell Cycle 2021 Sep 26;20(18):1760-1784. Epub 2021 Aug 26.

Department of Botany, UGC Centre for Advanced Studies, the University of Burdwan, Golapbag Campus, Burdwan, West Bengal, India.

Plants, with their obligatory immobility, are vastly exposed to a wide range of environmental agents and also various endogenous processes, which frequently cause damage to DNA and impose genotoxic stress. These factors subsequently increase genome instability, thus affecting plant growth and productivity. Therefore, to survive under frequent and extreme environmental stress conditions, plants have developed highly efficient and powerful defense mechanisms to repair the damages in the genome for maintaining genome stability. Read More

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September 2021

MiR-519d-5p modulates the sensitivity of breast cancer to chemotherapy by forming a negative feedback loop with RELA.

Ann Transl Med 2021 Jul;9(14):1171

Department of Pharmacology, School of Pharmacy, Fujian Medical University, Fuzhou, China.

Background: The chemoresistance of breast cancer (BC) has become the main cause of treatment failure. MicroRNAs (miRNAs) play a critical role in tumorigenesis, development, and chemoresistance, but the underlying mechanism of miR-519d in BC development and chemotherapy sensitivity remains to be elucidated.

Methods: The levels of miR-519d-5p in BC samples and cell lines were measured by quantitative reverse transcription polymerase chain reaction (RT-qPCR). Read More

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Reliability and agreement of the central and mid-peripheral corneal thickness measured by a new Scheimpflug based imaging.

Ann Transl Med 2021 Jul;9(14):1136

Eye Hospital and School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, China.

Background: To assess the intra-observer repeatability and inter-observer reproducibility of central corneal thickness (CCT) and mid-peripheral corneal thickness (MPCT) measurements using a new Scheimpflug imaging instrument (Scansys) and compare the agreement with the rotating Scheimpflug corneal tomographer (Pentacam HR).

Methods: The same well-trained operator performed the measuring using the two devices, after which Scansys measurements were repeated by another operator. Both instruments required three consecutive measurements per subject. Read More

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Regional and remote connectivity patterns in focal extratemporal lobe epilepsy.

Ann Transl Med 2021 Jul;9(14):1128

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

Background: Focal epilepsy accounts for most epilepsy cases, and frontal lobe epilepsy (FLE) accounts for the largest proportion of cases of extratemporal epilepsy syndrome. The epileptogenic zone is usually not easy to locate, contributing to a lack of imaging studies. The objective of this study was to evaluate functional connectivity patterns to explore the underlying pathological mechanisms of this disorder. Read More

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Three-dimensional facial scanner in the hands of patients: validation of a novel application on iPad/iPhone for three-dimensional imaging.

Ann Transl Med 2021 Jul;9(14):1115

Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

Background: Three-dimensional (3D) photography plays an important role in surgical planning and postoperative evaluation. Commercial 3D facial scanners are expensive, and they require patients to come to the clinics for 3D photography. To solve this problem, we developed an iPad/iPhone application to enable patients to capture 3D images of themselves on their own. Read More

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Clubfoot management in the Middle East: a survey-based review.

Ann Transl Med 2021 Jul;9(13):1106

Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon.

Clubfoot is the most frequent congenital deformity involving the foot. Little is known about the management of this disease in the Middle East as sparse data is available in the literature. Through the last 5 decades, congenital clubfoot management in the Middle East went from manipulation through Kite's technique in the late seventies, to early primary surgical intervention in the late eighties and early nineties of the previous century, and then back to manipulation with Ponseti's technique and the French functional technique in the late nineties, with the latter falling out of favor with time. Read More

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Combination of natural killer cell-based immunotherapy and irreversible electroporation for the treatment of hepatocellular carcinoma.

Ann Transl Med 2021 Jul;9(13):1089

Department of Radiology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Hepatocellular carcinoma (HCC) is among the most lethal cancer types despite great advancement in overall survival of the patients over the last decades. Surgical resection or partial hepatectomy has been approved as the curative treatment for early-stage HCC patients however only up to 30% of them are eligible for the procedures. Natural killer (NK) cells are cytotoxic lymphocytes recognized for killing virally infected cells and improving immune functions for defending the body against malignant cells. Read More

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Geographic variations in idiopathic epiretinal membranes in China.

Ann Transl Med 2021 Jun;9(11):938

Department of Ophthalmology, Affiliated Hospital of Nantong University, Nantong, China.

Background: Idiopathic epiretinal membranes (ERMs) often cause metamorphopsia and the progressive loss of central visual function, which seriously affect quality of life. We aimed to map the distribution pattern of idiopathic ERMs in China and to examine the factors affecting the surgical choices of multicenter surgeons.

Methods: A national ophthalmologist-oriented questionnaire was administered, applied with a multistage probability sampling method. Read More

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Novel coronavirus pneumonia detection and segmentation based on the deep-learning method.

Ann Transl Med 2021 Jun;9(11):934

Changzhou Second People's Hospital Affiliated to Nanjing Medical University, Changzhou, China.

Background: Segmentation of coronavirus disease 2019 (COVID-19) lesions is a difficult task due to high uncertainty in the shape, size and location of the lesions. CT scan image is an important means of diagnosing COVID-19, but it requires doctors to observe a large number of scan images repeatedly to determine the patient's condition. Moreover, the low contrast of CT scan and the presence of tissues such as blood vessels in the background increase the difficulty of diagnosis. Read More

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Improving access to medicines for non-communicable diseases in rural primary care: results from a quasi-randomized cluster trial in a district in South India.

BMC Health Serv Res 2021 Aug 4;21(1):770. Epub 2021 Aug 4.

Institute of Public Health, 3009 II-A Main, 17th Cross Banashankari 2nd Stage KR Road, Bangalore, Karnataka, 560070, India.

Background: A large proportion of non-communicable diseases (NCDs) are treatable within primary health care (PHC) settings in a cost-effective manner. However, the utilization of PHCs for NCD care is comparatively low in India. The Access-to-Medicines (ATM) study examined whether (and how) interventions aimed at health service optimization alone or combined with community platform strengthening improve access to medicines at the primary health care level within the context of a local health system. Read More

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The stability of Cl-, Br-, and I-passivated Si(100)-(2 × 1) in ambient environments for atomically-precise pattern preservation.

J Phys Condens Matter 2021 Aug 23;33(44). Epub 2021 Aug 23.

Laboratory for Physical Sciences, 8050 Greenmead Drive, College Park, MD 20740, United States of America.

Atomic precision advanced manufacturing (APAM) leverages the highly reactive nature of Si dangling bonds relative to H- or Cl-passivated Si to selectively adsorb precursor molecules into lithographically defined areas with sub-nanometer resolution. Due to the high reactivity of dangling bonds, this process is confined to ultra-high vacuum (UHV) environments, which currently limits its commercialization and broad-based appeal. In this work, we explore the use of halogen adatoms to preserve APAM-derived lithographic patterns outside of UHV to enable facile transfer into real-world commercial processes. Read More

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Effects of water-soluble components of atmospheric particulates from rare earth mining areas in China on lung cancer cell cycle.

Part Fibre Toxicol 2021 08 2;18(1):27. Epub 2021 Aug 2.

School of Public Health, Inner Mongolia Autonomous Region, Jinshan Economic and Technological Development Zone, Inner Mongolia Medical University, Inner Mongolia Autonomous Region, 010010, Hohhot, China.

Background: This study aims to investigate the effects of water soluble particulate matter (WSPM) on the viability and protein expression profile of human lung adenocarcinoma cell A549 in the Bayou Obo rare earth mining area, and explore the influence of WSPM on the A549 cell cycle.

Results: It was found that WSPM can inhibit the viability of A549 cells and induce cell arrest in the G2/M phase. Compared with controls, exposure to WSPM10 and WSPM2. Read More

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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Int J Mol Sci 2021 Jul 19;22(14). Epub 2021 Jul 19.

SOD Molecular Genetics, University Hospital of Pisa, 56126 Pisa, Italy.

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (, , , , , , , , , , , ) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, for germline mutation in genes. The analysis was extended to 5'UTR and 3'UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients. Read More

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High-pressures study by Raman spectroscopy and DFT calculations of L-tyrosine hydrobromide crystal.

Spectrochim Acta A Mol Biomol Spectrosc 2021 Dec 6;263:120142. Epub 2021 Jul 6.

Centro de Ciências Sociais, Saúde e Tecnologia, Universidade Federal do Maranhão, Imperatriz, MA 65900-410, Brazil.

The high-pressure Raman spectra of L-tyrosine hydrobromide crystal (LTHBr) were obtained from 1.0 atm to 8.1 GPa in the 100-3200 cm spectral region. Read More

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December 2021

Gastric cancer-associated microRNA expression signatures: integrated bioinformatics analysis, validation, and clinical significance.

Ann Transl Med 2021 May;9(9):797

Key Laboratory for Gastrointestinal Diseases of Gansu Province, Lanzhou University, Lanzhou, China.

Background: Gastric cancer (GC) is one of the common gastrointestinal malignancy worldwide and exhibits a poor prognosis. Increasing studies have indicated that microRNAs play critical roles in the cancer progression and have shown great potential as useful biomarkers. The search for potential diagnostic and prognostic biomarkers of gastric cancer (GC) with integrated bioinformatics analyses has been undertaken in previous studies. Read More

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Intravenous thrombolysis in Chinese patients with mild acute ischemic stroke.

Ann Transl Med 2021 May;9(9):767

Vascular Neurology, Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Background: Mild stroke accounts for more than a half of all stroke patients, and short-term outcomes after treatment with intravenous (IV) recombinant tissue plasminogen activator (rtPA) have not been fully investigated in this group.

Methods: Our study investigated short-term outcomes and predictors for a favorable functional outcome at discharge in mild stroke patients with IV rtPA. 6,752 mild stroke patients in the China Stroke Center Alliance with a clinical diagnosis of acute ischemic stroke, within 4. Read More

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The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.

J Transl Med 2021 07 12;19(1):301. Epub 2021 Jul 12.

Department of Abdominal Oncology, Cancer Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.

Background: Pancreatic ductal adenocarcinoma (PDAC) is a fatal disease with molecular heterogeneity, inducing differences in biological behavior, and therapeutic strategy. NGS profiles of pathogenic alterations in the Chinese PDAC population are limited. We conducted a retrospective study to investigate the predictive role of DNA damage repair (DDR) mutations in precision medicine. Read More

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The assessment of the April 2020 chernobyl wildfires and their impact on Cs-137 levels in Belgium and The Netherlands.

J Environ Radioact 2021 Oct 8;237:106688. Epub 2021 Jul 8.

SCK CEN, Boeretang 200, 2400, Mol, Belgium.

In April 2020, several wildfires took place in and around the Chernobyl exclusion zone. These fires reintroduced radioactive particles deposited during the 1986 Chernobyl disaster into the atmosphere, causing concern about a possible radiation hazard. Several countries and several stations of the International Monitoring System measured increased Cs137 levels. Read More

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October 2021

An MDM2 inhibitor achieves synergistic cytotoxic effects with adenoviruses lacking E1B55kDa gene on mesothelioma with the wild-type p53 through augmenting NFI expression.

Cell Death Dis 2021 07 2;12(7):663. Epub 2021 Jul 2.

Division of Pathology and Cell Therapy, Chiba Cancer Center Research Institute, 666-2 Nitona, Chuo-ku, Chiba, 260-8717, Japan.

A majority of mesothelioma specimens were defective of p14 and p16 expression due to deletion of the INK4A/ARF region, and the p53 pathway was consequently inactivated by elevated MDM2 functions which facilitated p53 degradaton. We investigated a role of p53 elevation by MDM2 inhibitors, nutlin-3a and RG7112, in cytotoxicity of replication-competent adenoviruses (Ad) lacking the p53-binding E1B55kDa gene (Ad-delE1B). We found that a growth inhibition by p53-activating Ad-delE1B was irrelevant to p53 expression in the infected cells, but combination of Ad-delE1B and the MDM2 inhibitor produced synergistic inhibitory effects on mesothelioma with the wild-type but not mutated p53 genotype. Read More

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