11,872 results match your criteria deleted region


Fluctuating Bacteriophage-induced galU Deficiency Region is Involved in Trade-off Effects on the Phage and Fluoroquinolone Sensitivity in Pseudomonas aeruginosa.

Virus Res 2021 Oct 11:198596. Epub 2021 Oct 11.

Laboratory of Veterinary Biochemistry, Department of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido, Japan.

Pseudomonas aeruginosa, which causes chronic infections, has demonstrated rapid acquisition of antimicrobial resistance (AMR). Therefore, bacteriophages have received significant attention as promising antimicrobial agents; however, previous trials have reported the occurrence of phage-resistant variants. P. Read More

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October 2021

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

Super-enhancer receives signals from the extracellular matrix to induce PD-L1-mediated immune evasion integrin/BRAF/TAK1/ERK/ETV4 signaling.

Cancer Biol Med 2021 Oct 9. Epub 2021 Oct 9.

Laboratory of Medical Science, School of Medicine, Nantong University, Nantong 226001, China.

Objective: PD-L1 and PD-L2 expression levels determine immune evasion and the therapeutic efficacy of immune checkpoint blockade. The factors that drive inducible PD-L1 expression have been extensively studied, but mechanisms that result in constitutive PD-L1 expression in cancer cells are largely unknown.

Methods: DNA elements were deleted in cells by CRISPR/Cas9-mediated knockout. Read More

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October 2021

The preAR2 region (1458-1492) in Factor V-Short is crucial for the synergistic TFPIα-cofactor activity with protein S and the assembly of a trimolecular Factor Xa-inhibitory complex comprising FV-Short, protein S and TFPIα.

J Thromb Haemost 2021 Oct 8. Epub 2021 Oct 8.

Department of Translational Medicine, Lund University, University Hospital, 21428, Malmö, Sweden.

Background: Factor V-Short (FV756-1458) is a natural splice variant in which 702 residues are deleted from the B domain. It exposes an acid region (AR2; 1493-1537) that binds TFPIα. Protein S also interacts with TFPIα and serves as TFPIα-cofactor in FXa inhibition. Read More

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October 2021

Potential Role of S-Palmitoylation in Cancer Stem Cells of Lung Adenocarcinoma.

Front Cell Dev Biol 2021 21;9:734897. Epub 2021 Sep 21.

Department of Biochemistry and Molecular Biology, Harbin Medical University, Harbin, China.

S-palmitoylation, catalyzed by a family of 23 zinc finger Asp-His-His-Cys (DHHC) domain-containing (ZDHHC) protein acyltransferases localized on the cell membrane. However, stemness genes modulated by ZDHHCs in lung adenocarcinoma (LUAD) remain to be defined. Previously, we have constructed a network of cancer stem cell genes, including INCENP, based on mRNA stemness indices (mRNAsi) of LUAD. Read More

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September 2021

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Mol Genet Genomic Med 2021 Oct 5:e1829. Epub 2021 Oct 5.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

Background: This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion.

Methods: We investigated a cohort of nine patients with chromosome 9p terminal deletions who all displayed developmental delay, intellectual disability, hypotonia, and dysmorphic features. Of them, eight had trigonocephaly, seven had brain anomalies, seven had autistic manifestations, seven had fair hair, and six had a congenital heart defect (CHD). Read More

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October 2021

Spindle Dynamics during Meiotic Development of the Fungus Podospora anserina Requires the Endoplasmic Reticulum-Shaping Protein RTN1.

mBio 2021 Oct 5:e0161521. Epub 2021 Oct 5.

Departamento de Bioquímica y Biología Estructural, Instituto de Fisiología Celular, Universidad Nacional Autónoma de México, Mexico City, Mexico.

The endoplasmic reticulum (ER) is an elaborate organelle composed of distinct structural and functional domains. ER structure and dynamics involve membrane-shaping proteins of the reticulon and Yop1/DP1 families, which promote membrane curvature and regulate ER shaping and remodeling. Here, we analyzed the function of the reticulon (RTN1) and Yop1 proteins (YOP1 and YOP2) of the model fungus Podospora anserina and their contribution to sexual development. Read More

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October 2021

A standard knockout procedure alters expression of adjacent loci at the translational level.

Nucleic Acids Res 2021 Oct 4. Epub 2021 Oct 4.

Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119234, Russia.

The Saccharomyces cerevisiae gene deletion collection is widely used for functional gene annotation and genetic interaction analyses. However, the standard G418-resistance cassette used to produce knockout mutants delivers strong regulatory elements into the target genetic loci. To date, its side effects on the expression of neighboring genes have never been systematically assessed. Read More

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October 2021

VP8, the Major Tegument Protein of Bovine Herpesvirus-1, Is Partially Packaged during Early Tegument Formation in a VP22-Dependent Manner.

Viruses 2021 Sep 17;13(9). Epub 2021 Sep 17.

Vaccine and Infectious Disease Organization, University of Saskatchewan, Saskatoon, SK S7N 5E3, Canada.

Bovine herpesvirus-1 (BoHV-1) is a major cause of rhinotracheitis and vulvovaginitis in cattle. VP8, the major tegument protein of BoHV-1, is essential for viral replication in the host. VP8 is phosphorylated by the viral kinase US3, mediating its translocation to the cytoplasm. Read More

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September 2021

ConAnomaly: Content-Based Anomaly Detection for System Logs.

Sensors (Basel) 2021 Sep 13;21(18). Epub 2021 Sep 13.

College of Information Science and Engineering, Xinjiang University, Urumqi 830046, China.

Enterprise systems typically produce a large number of logs to record runtime states and important events. Log anomaly detection is efficient for business management and system maintenance. Most existing log-based anomaly detection methods use log parser to get log event indexes or event templates and then utilize machine learning methods to detect anomalies. Read More

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September 2021

Development and Evaluation of Quantitative Immunoglobulin G Enzyme-Linked Immunosorbent Assay for the Diagnosis of Coronavirus Disease 2019 Using Truncated Recombinant Nucleocapsid Protein as Assay Antigen.

Int J Environ Res Public Health 2021 09 13;18(18). Epub 2021 Sep 13.

Department of Virology, Institute of Tropical Medicine, Nagasaki University, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causative agent of coronavirus disease 2019 (COVID-19). Real-time RT-PCR is the most commonly used method for COVID-19 diagnosis. However, serological assays are urgently needed as complementary tools to RT-PCR. 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

Complete chloroplast genome sequence of (Saxifragaceae).

Mitochondrial DNA B Resour 2021 22;6(10):3028-3030. Epub 2021 Sep 22.

Laboratory of Extreme Environmental Biological Resources and Adaptive Evolution, College of Science, Tibet University, Lhasa, China.

Bunge, Tibetan name 'Yajima,' growing in the highlands of China is a perennial herb belonging to the genus Saxifragaceae. As a traditional Chinese medicine, it has been used to treat digestive diseases for hundreds of years. The complete chloroplast genome of is 152,775 bp in length and comprises two inverted repeats (IR, 25,962 bp), a large single-copy region (LSC, 83,533 bp), and a small single-copy region (SSC, 17,318 bp). Read More

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September 2021

Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1.

Cancer Rep (Hoboken) 2021 Sep 23:e1559. Epub 2021 Sep 23.

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Background: Lymphoblastic lymphoma (LBL) and acute lymphoblastic leukemia (ALL) are categorized as the same entity under precursor lymphoid neoplasms in the World Health Organization classification. However, compared to B-cell ALL, the molecular genetic makeup of B-cell LBL remains to be understood, mainly due to its rarity. We performed whole exome sequencing (WES) on seven patients with TCF3-PBX1-positive B-cell LBL. Read More

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September 2021

Pharmacological Rescue of the Brain Cortex Phenotype of Mouse Mutants: Significance for 22q11.2 Deletion Syndrome.

Front Mol Neurosci 2021 6;14:663598. Epub 2021 Sep 6.

Department of Chemistry and Biology, "Adolfo Zambelli", University of Salerno, Fisciano, Italy.

Objectives: mutant mice are a widely used model of 22q11.2 deletion syndrome (22q11.2DS) because they manifest a broad spectrum of physical and behavioral abnormalities that is similar to that found in 22q11. Read More

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September 2021

Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy.

Dis Model Mech 2021 Sep 21;14(9). Epub 2021 Sep 21.

Université Paris-Saclay, CNRS, Institut des Neurosciences Paris Saclay, 91190, Gif-sur-Yvette, France.

The exon-52-deleted mdx52 mouse is a critical model of Duchenne muscular dystrophy (DMD), as it features a deletion in a hotspot region of the DMD gene, frequently mutated in patients. Deletion of exon 52 impedes expression of several brain dystrophins (Dp427, Dp260 and Dp140), thus providing a key model for studying the cognitive impairment associated with DMD and testing rescuing strategies. Here, using in vivo magnetic resonance imaging and neurohistology, we found no gross brain abnormalities in mdx52 mice, suggesting that the neural dysfunctions in this model are likely at the level of brain cellular functionalities. Read More

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September 2021

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Ital J Pediatr 2021 Sep 16;47(1):188. Epub 2021 Sep 16.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

Background: 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations.

Case Presentation: We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Read More

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September 2021

Impacts of single nucleotide deletions from the 3' end of Senecavirus A 5' untranslated region on activity of viral IRES and on rescue of recombinant virus.

Virology 2021 Nov 9;563:126-133. Epub 2021 Sep 9.

College of Veterinary Medicine, Qingdao Agricultural University, Qingdao, 266109, China. Electronic address:

The 5' untranslated region (UTR) of Senecavirus A (SVA) harbors an internal ribosome entry site (IRES), in which a pseudoknot structure is upstream of start codon AUG. Wild-type SVAs have a highly conserved 13-nt-sequence between the pseudoknot stem II (PKS-II)-forming motif and the AUG. In this study, a single nucleotide was deleted one by one from the 13-nt-sequence within a wild-type SVA minigenome. Read More

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November 2021

13q14 Deletion and Its Effect on Prognosis of Chronic Lymphocytic Leukemia.

Cureus 2021 Aug 2;13(8):e16839. Epub 2021 Aug 2.

Internal Medicine, Advent Health and Orlando Health Hospital/JC Medical Center, Orlando, USA.

Chronic lymphocytic leukemia (CLL) is the most common leukemia affecting adults. CLL results due to uncontrolled accumulation of B lymphocytes in the body with the clinical spectrum ranging from comparatively benign disease to an aggressive form. The disease pathogenesis lies in molecular genetics, the most common alteration being the deletion in the long arm of chromosome 13, at position 14 (13q14) region. Read More

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Duchenne muscular dystrophy cell culture models created by CRISPR/Cas9 gene editing and their application in drug screening.

Sci Rep 2021 Sep 14;11(1):18188. Epub 2021 Sep 14.

Neuromuscular Disorders, Biocruces Bizkaia Health Research Institute, 48903, Barakaldo, Bizkaia, Spain.

Gene editing methods are an attractive therapeutic option for Duchenne muscular dystrophy, and they have an immediate application in the generation of research models. To generate myoblast cultures that could be useful in in vitro drug screening, we have optimised a CRISPR/Cas9 gene edition protocol. We have successfully used it in wild type immortalised myoblasts to delete exon 52 of the dystrophin gene, modelling a common Duchenne muscular dystrophy mutation; and in patient's immortalised cultures we have deleted an inhibitory microRNA target region of the utrophin UTR, leading to utrophin upregulation. Read More

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September 2021

An Essential Role of the N-Terminal Region of ACSL1 in Linking Free Fatty Acids to Mitochondrial β-Oxidation in C2C12 Myotubes.

Mol Cells 2021 Sep;44(9):637-646

Biomedical Research Institute, Seoul National University Hospital, Seoul 03080, Korea.

Free fatty acids are converted to acyl-CoA by long-chain acyl-CoA synthetases (ACSLs) before entering into metabolic pathways for lipid biosynthesis or degradation. ACSL family members have highly conserved amino acid sequences except for their N-terminal regions. Several reports have shown that ACSL1, among the ACSLs, is located in mitochondria and mainly leads fatty acids to the β-oxidation pathway in various cell types. Read More

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September 2021

Pipeline for generating stable large genomic deletions in zebrafish, from small domains to whole gene excisions.

G3 (Bethesda) 2021 Sep 9. Epub 2021 Sep 9.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, 4072, Australia.

Here we describe a short feasibility study and methodological framework for the production of stable, CRISPR/Cas9-based, large genomic deletions in zebrafish, ranging from several base pairs (bp) to hundreds of kilobases (kb). Using a cocktail of four sgRNAs targeting a single genomic region mixed with a marker-sgRNA against the pigmentation gene tyrosinase (tyr), we demonstrate that one can easily and accurately excise genomic regions such as promoters, protein domains, specific exons or whole genes. We exemplify this technique with a complex gene family, neurexins, composed of three duplicated genes with multiple promoters and intricate splicing processes leading to thousands of isoforms. Read More

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September 2021

The HydS C-terminal domain of the Thiocapsa bogorovii HydSL hydrogenase is involved in membrane anchoring and electron transfer.

Biochim Biophys Acta Bioenerg 2021 Dec 4;1862(12):148492. Epub 2021 Sep 4.

Federal Research Center "Pushchino's center of Biological Research", Institute of Basic Biological Problems of Russian Academy of Sciences, Institutskaya st., 2, Pushchino, Moscow region 142290, Russia. Electronic address:

Thiocapsa bogorovii BBS (former name Thiocapsa roseopersicina) contains HydSL hydrogenase belonging to 1e subgroup of NiFe hydrogenases (isp-type). The operon of these hydrogenases contains gene for small subunit (hydS), gene for large subunit (hupL), and genes isp1 and isp2 between them. It is predicted that last two genes code electron transport careers for electron transfer from/to HydSL hydrogenase. Read More

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December 2021

[Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):869-872

Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention.

Methods: Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and further analysis was performed by chromosome G-banding, fluorescence in situ hybridization (FISH) and SNP array analysis.

Results: The MLPA results of the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding karyotype of blood sample was 46, XY, and the deletion of the short arm of X chromosome was found by FISH. Read More

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September 2021

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.

Mol Cytogenet 2021 Sep 4;14(1):43. Epub 2021 Sep 4.

Laboratorio de Genética, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán, Sin., Mexico.

Background: 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype-phenotype correlations in affected patients. Read More

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September 2021

Sphingolipid metabolism governs Purkinje cell patterned degeneration in mice.

Proc Natl Acad Sci U S A 2021 Sep;118(36)

Department of Neuroscience, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands;

Patterned degeneration of Purkinje cells (PCs) can be observed in a wide range of neuropathologies, but mechanisms behind nonrandom cerebellar neurodegeneration remain unclear. Sphingolipid metabolism dyshomeostasis typically leads to PC neurodegeneration; hence, we questioned whether local sphingolipid balance underlies regional sensitivity to pathological insults. Here, we investigated the regional compartmentalization of sphingolipids and their related enzymes in the cerebellar cortex in healthy and pathological conditions. Read More

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September 2021

Non-molting dwarf (nm-d) as a mutant of Bombyx mori with a defect in purine synthesis.

Insect Biochem Mol Biol 2021 Nov 31;138:103636. Epub 2021 Aug 31.

Laboratory of Silkworm Genetic Resources, Institute of Genetic Resources, Kyushu University Graduate School of BioResources and Bioenvironmental Science, Motooka 744, Nishi-ku, Fukuoka, 819-0395, Japan.

There are several known non-molting mutations of the silkworm, Bombyx mori, including non-molting dwarf (nm-d). Larvae with this mutation hatch normally and start eating leaves, but die before the completion of the first ecdysis. Genetic analysis of the nm-d mutation would contribute to the isolation of essential genes for the larval development of lepidopteran insects. Read More

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November 2021

Detection of 3D Arterial Centerline Extraction in Spiral CT Coronary Angiography.

J Healthc Eng 2021 21;2021:2670793. Epub 2021 Aug 21.

Changshu Hospital of Chinese Medicine, Changshu 215516, Jiangsu, China.

This paper presents an in-depth study and analysis of the 3D arterial centerline in spiral CT coronary angiography, and constructs its detection and extraction technique. The first time, the distance transform is used to complete the boundary search of the original figure; the second time, the distance transform is used to calculate the value of the distance transform of all voxels, and according to the value of the distance transform, unnecessary voxels are deleted, to complete the initial contraction of the vascular region and reduce the computational consumption in the next process; then, the nonwitnessed voxels are used to construct the maximum inner joint sphere model and find the skeletal voxels that can reflect the shape of the original figure. Finally, the skeletal lines were optimized on these initially extracted skeletal voxels using a dichotomous-like principle to obtain the final coronary artery centerline. Read More

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Genomic Copy Number Variants in CML Patients With the Philadelphia Chromosome (Ph+): An Update.

Front Genet 2021 10;12:697009. Epub 2021 Aug 10.

Department of Hematology, The First Hospital of China Medical University, Shenyang, China.

Background: Submicroscopic segmental imbalances detected by array-comparative genomic hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia (CML) patients with (9;22) as the sole chromosomal anomaly. To confirm the findings of the previous study and expand the investigation, additional CML patients with (9;22) as the sole chromosomal anomaly were recruited and copy number variants (CNVs) were searched for.

Methods: Karyotyping tests were performed on 106 CML patients during January 2010-September 2019 in our Genetics Laboratory. Read More

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Genetic Mapping of , a Recessive Gene for Male Sterility in Common Wheat.

Int J Mol Sci 2021 Aug 9;22(16). Epub 2021 Aug 9.

State Key Laboratory of Plant Cell and Chromosome Engineering, Institute of Genetics and Developmental Biology/Innovative Academy of Seed Design, Chinese Academy of Sciences, Beijing 100101, China.

The utilization of heterosis is an important way to improve wheat yield, and the production of wheat hybrid seeds mainly relies on male-sterile lines. Male sterility in line 15 Fan 03 derived from a cross of 72,180 and Xiaoyan 6 is controlled by a single recessive gene. The gene was mapped to the distal region of chromosome 4BS in a genetic interval of 1. Read More

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