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Verrucous Carcinoma of the Esophagus Is A Genetically Distinct Subtype of Esophageal Squamous Cell Carcinoma.

Histopathology 2021 May 7. Epub 2021 May 7.

Department of Pathology.

Aims: Esophageal verrucous carcinoma (VSCC) is a rare and morphologically distinct type of esophageal squamous cell carcinoma (SCC). Diagnosing VSCC on biopsy material is challenging given the lack of significant atypia and the presence of keratinizing epithelium and exophytic growth. The molecular pathogenesis of VSCC remains unclear. Read More

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X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.

Mov Disord 2021 May 7. Epub 2021 May 7.

IRCCS Mondino Foundation, Pavia, Italy.

X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non-neurological signs. In particular, a childhood-onset encephalopathy with epilepsy and/or cognitive disability is the most common feature. Read More

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External application of N alleviates toxicity of Cd on poplars via starch and sucrose metabolism.

Tree Physiol 2021 May 7. Epub 2021 May 7.

College of Landscape Architecture, Sichuan Agricultural University, Chengdu 611130, China.

Phytoremediation technology can help achieve moderate cost and considerable effect, with respect to the remediation of heavy metal pollution in soil and water. Many previous studies have suggested the role of N in the alleviation of effects of heavy metal on plants. Herein, we sought to determine the molecular mechanisms by which additional N supplementation mitigates Cd toxicity in poplars using a combination of physiological, transcriptomic, and phosphoproteomic analyses. Read More

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Deciphering the evolution of the ovule genetic network through expression analyses in Gnetum gnemon.

Ann Bot 2021 May 7. Epub 2021 May 7.

The Graduate Center, City University of New York, New York, NY, USA.

Backgound And Aims: The ovule is a synapomorphy of all seed plants (gymnosperms and angiosperms), however there are some striking differences in ovules among the major seed plant lineages such as the number of integuments or the orientation of the ovule. The genetics involved in ovule development has been well studied in the model species, Arabidopsis thaliana, which has two integuments and anatropous orientation. This study is approached from what is known in Arabidopsis, focusing on the expression patterns of homologs of four genes known to be key for the proper development of the integuments in Arabidopsis: AINTEGUMENTA (ANT), BELL1, (BEL1), KANADIs (KANs) and UNICORN (UCN). Read More

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Disease Spectrum of Breast Cancer Susceptibility Genes.

Front Oncol 2021 20;11:663419. Epub 2021 Apr 20.

Division of Surgical Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.

Background: Pathogenic variants in cancer susceptibility genes can increase the risk of a spectrum of diseases, which clinicians must manage for their patients. We evaluated the disease spectrum of breast cancer susceptibility genes (BCSGs) with the aim of developing a comprehensive resource of gene-disease associations for clinicians.

Methods: Twelve genes (, and ), all of which have been conclusively established as BCSGs by the Clinical Genome Resource (ClinGen) and/or the NCCN guidelines, were investigated. Read More

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Identified in Fecal and Avian Pathogenic (APEC) From Brazil.

Front Microbiol 2021 20;12:659613. Epub 2021 Apr 20.

Department of Population Health, College of Veterinary Medicine, University of Georgia, Athens, GA, United States.

Colisitin-associated resistance in bacteria of food producing animals has gained significant attention with the gene being linked with resistance. Recently, newer variants of have emerged with more than nine variants currently recognized. Reports of associated resistance in of poultry appear to be relatively limited, but its prevalence requires assessment since poultry is one of the most important and cheapest sources of the world's protein and the emergence of resistance could limit our ability to treat disease outbreaks. Read More

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First Report of a Foodborne Serovar Gloucester (4:i:l,w) ST34 Strain Harboring and Genes Located in IS-Mediated Composite Transposon.

Front Microbiol 2021 20;12:646101. Epub 2021 Apr 20.

Institute of Food Safety and Nutrition, Jinan University, Guangzhou, China.

Extended-spectrum β-lactamases (ESBLs) production and (fluoro)quinolone (FQ) resistance among pose a public health threat. The objective of this study was the phenotypic and genotypic characterization of an ESBL-producing and nalidixic acid-resistant serovar Gloucester isolate (serotype 4:i:l,w) of sequence type 34 (ST34) from ready-to-eat (RTE) meat products in China. Whole-genome short and long read sequencing (HiSeq and MinION) results showed that it contained , , and genes, with and located in chromosomal IS-mediated composite transposon (IS--IS-Tn---IS-IS). Read More

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A review of the taxonomy of spiny-backed orb-weaving spiders of the subfamily Gasteracanthinae (Araneae, Araneidae) in Thailand.

Zookeys 2021 16;1032:17-62. Epub 2021 Apr 16.

Animal Systematics and Molecular Ecology Laboratory, Department of Biology, Faculty of Science, Mahidol University, Bangkok 10400, Thailand Animal Systematics and Molecular Ecology Laboratory, Department of Biology, Faculty of Science, Mahidol University Bangkok Thailand.

Spiny-backed orb-weaving spiders of the subfamily Gasteracanthinae are broadly distributed in the Old World. Despite their use as a model species in biology, evolution, and behavior because of their extraordinary characteristics, the systematics of this group of spiders are still poorly understood. This study elucidates the systematics of Gasteracanthinae in Thailand based on morphological and molecular-based analyses. Read More

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First report of a bla metallo-β-lactamase-possessing Klebsiella michiganensis.

J Glob Antimicrob Resist 2021 May 3. Epub 2021 May 3.

Institute for Infectious Diseases (IFIK), University of Bern. Electronic address:

Background: Klebsiella michiganensis is an emerging pathogen. As for Klebsiella pneumoniae, this species is able to acquire antibiotic resistance genes (ARGs) via mobile genetic elements. In this context, K. Read More

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In vitro activity of imipenem/relebactam, meropenem/vaborbactam, ceftazidime/avibactam, cefepime/zidebactam and other novel antibiotics against imipenem-non-susceptible Gram-negative bacilli from Taiwan.

J Antimicrob Chemother 2021 May 6. Epub 2021 May 6.

National Institute of Infectious Diseases and Vaccinology, National Health Research Institutes, Zhunan, Miaoli County, Taiwan.

Objectives: To investigate the susceptibility of imipenem-non-susceptible Escherichia coli (INS-EC), Klebsiella pneumoniae (INS-KP), Acinetobacter baumannii (INS-AB) and Pseudomonas aeruginosa (INS-PA) to novel antibiotics.

Methods: MICs were determined using the broth microdilution method. Carbapenemase and ESBL phenotypic testing and PCR for genes encoding ESBLs, AmpCs and carbapenemases were performed. Read More

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Molecular basis of various forms of maple syrup urine disease in Chilean patients.

Mol Genet Genomic Med 2021 May 6:e1616. Epub 2021 May 6.

Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1β, and E2 subunits of the BCKD complex, respectively. Read More

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Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.

J Intern Med 2021 May 6. Epub 2021 May 6.

From the, Cardiometabolic Unit, Clinical Department of Endocrinology, Department of Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden.

Aim: To investigate whether genotyping could be used as a cost-effective screening step, preceding next-generation sequencing (NGS), in molecular diagnosis of familial hypercholesterolaemia (FH) in Swedish patients.

Methods And Results: Three hundred patients of Swedish origin with clinical suspicion of heterozygous FH were analysed using a specific array genotyping panel embedding 112 FH-causing mutations in the LDLR, APOB and PCSK9 genes. The mutations had been selected from previous reports on FH patients in Scandinavia and Finland. Read More

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Comprehensive Molecular Characterization of Chinese Patients with Glioma by Extensive Next-Generation Sequencing Panel Analysis.

Cancer Manag Res 2021 29;13:3573-3588. Epub 2021 Apr 29.

Department of Neurosurgery, Peking University International Hospital, Beijing, People's Republic of China.

Background: Tremendous efforts have been made to explore biomarkers for classifying and grading glioma. However, the majority of the current understanding is based on public databases that might not accurately reflect the Asian population. Here, we investigated the genetic landscape of Chinese glioma patients using a validated multigene next-generation sequencing (NGS) panel to provide a strong rationale for the future classification and prognosis of glioma in this population. Read More

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Molecular-genetic characterization of human parvovirus B19 prevalent in Kerala State, India.

Virol J 2021 May 5;18(1):96. Epub 2021 May 5.

Laboratory Medicine and Molecular Diagnostics Rajiv Gandhi Centre for Biotechnology (RGCB), Thiruvananthapuram, 695585, India.

Background: Human parvovirus B19V is a DNA virus, and a member of the family Parvoviridae, that causes various clinical manifestations, from asymptomatic to persistent infection that is associated with different autoimmune diseases. The parvovirus B19 evolves with a very high mutation rate that is closer to those of existing RNA viruses. Globally circulating B19V is currently classified into three genotypes, but their distribution is not spatially and temporally correlated. Read More

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Vitamin D deficiency exacerbates hepatic oxidative stress and inflammation during acetaminophen-induced acute liver injury in mice.

Int Immunopharmacol 2021 May 2;97:107716. Epub 2021 May 2.

First Affiliated Hospital, Anhui Medical University, Hefei 230032, China. Electronic address:

Several experiments confirmed that vitamin D3 protected against acetaminophen (APAP)-induced acute liver injury (ALI). This research aimed to evaluate the influence of vitamin D deficiency (VDD) on APAP-induced ALI. In VDD and VDD + APAP groups, mice were fed with VDD diet. Read More

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Multi-omic analysis elucidates the genetic basis of hydrocephalus.

Cell Rep 2021 May;35(5):109085

Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Data Science Institute, Vanderbilt University, Nashville, TN 37232, USA; Clare Hall, University of Cambridge, Cambridge CB3 9AL, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge CB3 9AL, UK. Electronic address:

We conducted PrediXcan analysis of hydrocephalus risk in ten neurological tissues and whole blood. Decreased expression of MAEL in the brain was significantly associated (Bonferroni-adjusted p < 0.05) with hydrocephalus. Read More

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Epidemiologic case investigation on the zoonotic transmission of Staphylococcus aureus infection from goat to veterinarians.

Zoonoses Public Health 2021 May 5. Epub 2021 May 5.

Department of Veterinary Medical Sciences, University of Bologna, Bologna, Italy.

Staphylococcus aureus infection led to a case of goat abortion, and four veterinarians contracted S. aureus infection from the goat during and after the abortion. Three veterinarians assisted a doe during the dystocic delivery of a dead foetus. Read More

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HSP17.4 mediates salicylic acid and jasmonic acid pathways in the regulation of resistance to Colletotrichum gloeosporioides in strawberry.

Mol Plant Pathol 2021 May 5. Epub 2021 May 5.

Institute of Forestry and Pomology, Shanghai Academy of Agricultural Sciences, Shanghai, China.

In this study, we used virus-mediated gene silencing technology and found that the HSP17.4 gene-silenced cultivar Sweet Charlie plants were more susceptible to Colletotrichum gloeosporioides than the wild-type Sweet Charlie, and the level of infection was even higher than that of the susceptible cultivar Benihopp. The results of differential quantitative proteomics showed that after infection with the pathogen, the expression of the downstream response genes NPR1, TGA, and PR-1 of the salicylic acid (SA) signalling pathway was fully up-regulated in the wild-type Sweet Charlie, and the expression of the core transcription factor MYC2 of the jasmonic acid (JA) pathway was significantly down-regulated. Read More

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Whole-genome classification of rotavirus C and genetic diversity of porcine strains in the USA.

J Gen Virol 2021 May;102(5)

Kansas State Veterinary Diagnostic Laboratory, Kansas State University, Manhattan, KS 66506, USA.

Rotavirus C (RVC) is associated with acute diarrhoea in both children and young animals. Because of its frequent occurrence, additional sequences have recently been generated. In this study, we sequenced 21 complete genomes from porcine diarrhoea samples and analysed them together with all available reference sequences collected from the GenBank database [National Center for Biotechnology Information (NCBI)]. Read More

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Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.

Brain 2021 May 5. Epub 2021 May 5.

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

MECP2 gene transfer has been shown to extend the survival of Mecp2-/y knockout (KO) mice modeling Rett syndrome (RTT), an X-linked neurodevelopmental disorder. However, controlling deleterious overexpression of MeCP2 remains the critical unmet obstacle towards a safe and effective gene therapy approach for RTT. A recently developed truncated miniMECP2 gene has also been shown to be therapeutic after AAV9-mediated gene transfer in KO neonates. Read More

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Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Am J Med Genet A 2021 May 5. Epub 2021 May 5.

Interdepartmental Program "Autism 0-90", "Gaetano Martino" University Hospital, University of Messina, Messina, Italy.

Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies, and minor aspecific dysmorphic features. Haploinsufficiency of SHANK3, due to intragenic deletions or point mutations, is sufficient to cause many neurobehavioral features of PMS. However, several additional genes located within larger 22q13 deletions can contribute to the great interindividual variability observed in the PMS phenotype. Read More

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Infantile Rhabdomyosarcomas With VGLL2 Rearrangement Are Not Always an Indolent Disease: A Study of 4 Aggressive Cases With Clinical, Pathologic, Molecular, and Radiologic Findings.

Am J Surg Pathol 2021 Jun;45(6):854-867

Genetics Unit, Department of Tumor Biology.

VGLL2-rearranged rhabdomyosarcomas (RMS) are rare low-grade tumors with only favorable outcomes reported to date. We describe 4 patients with VGLL2-rearranged RMS confirmed by molecular studies, who experienced local progression and distant metastases, including 2 with fatal outcomes. Tumors were diagnosed at birth (n=3) or at 12 months of age (n=1), and were all localized at initial diagnosis, but unresectable and therefore managed with chemotherapy and surveillance. Read More

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RAG enhances BCR-ABL1 positive leukemic cell growth through its endonuclease activity in vitro and in vivo.

Cancer Sci 2021 May 4. Epub 2021 May 4.

Department of Pathogenic Biology and Immunology. School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, China.

BCR-ABL1 gene fusion associated with additional DNA lesions involves to the pathogenesis of chronic myelogenous leukemia (CML) from a chronic phase (CP) to a blast crisis of B lymphoid (CML-LBC) lineage and BCR-ABL1 acute lymphoblastic leukemia (BCR-ABL1 ALL). The recombination-activating genes RAG1 and RAG2 (collectively, RAG) proteins that assemble a diverse set of antigen receptor genes during lymphocyte development are abnormally expressed in CML-LBC and BCR-ABL1 ALL. However, the direct involvement of dysregulated RAG in disease progression remains unclear. Read More

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Sequencing and analysis of the mitochondrial genome of (Bloch, 1793) (Perciformes: Sciaenidae).

Mitochondrial DNA B Resour 2021 Apr 15;6(4):1389-1391. Epub 2021 Apr 15.

Department of Biotechnology, Sangmyung University, Seoul, Korea.

Donkey croaker, (Bloch, 1793) is a commercially important croaker in the Indo-Pacific region. In this study, we sequenced and analyzed the mitogenome of . The nearly complete mitochondrial genome of is 15,694 bp in size. Read More

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Elucidating the Regulatory Elements for Transcription Termination and Posttranscriptional Processing in the Streptomyces clavuligerus Genome.

mSystems 2021 May 4;6(3). Epub 2021 May 4.

Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, South Korea

Identification of transcriptional regulatory elements in the GC-rich genome is essential for the production of novel biochemicals from secondary metabolite biosynthetic gene clusters (smBGCs). Despite many efforts to understand the regulation of transcription initiation in smBGCs, information on the regulation of transcription termination and posttranscriptional processing remains scarce. In this study, we identified the transcriptional regulatory elements in β-lactam antibiotic-producing ATCC 27064 by determining a total of 1,427 transcript 3'-end positions (TEPs) using the term-seq method. Read More

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Low-dose IL-34 has no effect on osteoclastogenesis but promotes osteogenesis of hBMSCs partly via activation of the PI3K/AKT and ERK signaling pathways.

Stem Cell Res Ther 2021 May 4;12(1):268. Epub 2021 May 4.

Department of Orthopedics Surgery, the Second Affiliated Hospital, Zhejiang University School of Medicine, No. 88, Jiefang Road, Hangzhou, 310009, China.

Background: Inflammatory microenvironment is significant to the differentiation and function of mesenchymal stem cells (MSCs). It evidentially influences the osteoblastogenesis of MSCs. IL-34, a newly discovered cytokine, playing a key role in metabolism. Read More

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An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

Circulation 2021 May 5. Epub 2021 May 5.

Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.

The cardiomyopathies, classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), each have a signature genetic theme. HCM and ARVC are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning more than 10 gene ontologies have been implicated in DCM, representing a complex and diverse genetic architecture. Read More

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ATRX Alteration Contributes to Tumor Growth and Immune Escape in Pleomorphic Sarcomas.

Cancers (Basel) 2021 Apr 29;13(9). Epub 2021 Apr 29.

INSERM U1037, Cancer Research Center in Toulouse (CRCT), OncoSarc, 31000 Toulouse, France.

Whole genome and transcriptome sequencing of a cohort of 67 leiomyosarcomas has been revealed to be one of the most frequently mutated genes in leiomyosarcomas after and . While its function is well described in the alternative lengthening of telomeres mechanism, we wondered whether its alteration could have complementary effects on sarcoma oncogenesis. alteration is associated with the down-expression of genes linked to differentiation in leiomyosarcomas, and to immunity in an additional cohort of 60 poorly differentiated pleomorphic sarcomas. Read More

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Using Genomics Feature Selection Method in Radiomics Pipeline Improves Prognostication Performance in Locally Advanced Esophageal Squamous Cell Carcinoma-A Pilot Study.

Cancers (Basel) 2021 Apr 29;13(9). Epub 2021 Apr 29.

Department of Diagnostic Radiology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong.

Purpose: To evaluate the prognostic value of baseline and restaging CT-based radiomics with features associated with gene expression in esophageal squamous cell carcinoma (ESCC) patients receiving neoadjuvant chemoradiation (nCRT) plus surgery.

Methods: We enrolled 106 ESCC patients receiving nCRT from two institutions. Gene expression profiles of 28 patients in the training set were used to detect differentially expressed (DE) genes between patients with and without relapse. Read More

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Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

Int J Environ Res Public Health 2021 Apr 30;18(9). Epub 2021 Apr 30.

Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.

Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may be incomplete. Read More

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