5,852 results match your criteria fusion transcript

Infection of Two Heterologous Mycoviruses Reduces the Virulence of , a Fungal Agent of Apple Valsa Canker Disease.

Front Microbiol 2021 25;12:659210. Epub 2021 May 25.

State Key Laboratory of Crop Stress Biology for Arid Areas, College of Plant Protection, Northwest A&F University, Xianyang, China.

Mycovirus infection has been widely shown to attenuate the virulence of phytopathogenic fungi. is an agriculturally important fungus that causes Valsa canker disease in apple trees. In this study, two unrelated mycoviruses [ 1 (CHV1, genus , and single-stranded RNA) and Mycoreovirus 1 (MyRV1, genus , double-stranded RNA)] that originated from (chestnut blight fungus) were singly or doubly introduced into via protoplast fusion. Read More

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Detection of BCOR gene rearrangement in Ewing-like sarcoma: an important diagnostic tool.

Diagn Pathol 2021 Jun 8;16(1):50. Epub 2021 Jun 8.

Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College of Peking University, Beijing, People's Republic of China.

Background: BCOR-CCNB3 sarcoma (BCS) is a group of undifferentiated small round cell sarcomas harboring the BCOR gene rearrangement which shares morphology with the Ewing sarcoma family as well as other malignant round blue cell tumors, thus making them difficult to diagnose. The aim of this study was to explore the role of molecular techniques in the diagnosis of BCS.

Methods: Twenty-three cases of EWSR1 rearrangement-negative undifferentiated small round cell sarcomas (Ewing-like sarcoma) were analyzed for the presence of BCOR gene rearrangement by Fluorescence in situ hybridization (FISH) and Reverse Transcription -Polymerase Chain Reaction (RT-PCR). Read More

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Diagnostic validation of a clinical laboratory-oriented targeted RNA sequencing system for detecting gene fusions in hematologic malignancies.

J Mol Diagn 2021 May 31. Epub 2021 May 31.

Departments of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun; Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Republic of Korea. Electronic address:

Targeted RNA sequencing (RNA-seq) is a highly accurate method for sequencing transcripts of interest with a high resolution and throughput. However, RNA-seq has not been widely performed in clinical molecular laboratories due to the complexity of data processing and interpretation. We developed and validated a customized RNA-seq panel and data processing protocol for fusion detection using four analytical validation samples and 51 clinical samples, covering seven types of hematologic malignancies. Read More

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Programmable RNA N1-Methyladenosine Demethylation by a Cas13d-Directed Demethylase.

Angew Chem Int Ed Engl 2021 Jun 3. Epub 2021 Jun 3.

Sichuan Normal University College of life science, Department of Cell Biology, No.1819 Chenglong Avenue, 610101, Chengdu, CHINA.

N 1 -methyladenosine (m 1 A) is a prevalent and reversible RNA modification, which plays a crucial role in the regulation of RNA fate and gene expression. However, the lack of tools to precisely manipulate m 1 A sites in specific transcripts has hindered efforts to clarify the association between a specific m 1 A-modified transcript and its phenotypic outcomes. Here we develop a CRISPR-Cas13d-based tool called re engineered m 1 A mo dification v alid er aser (termed "REMOVER") for targeted m 1 A demethylation of a specific transcript. Read More

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Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with Fusion Transcript.

Int J Mol Sci 2021 May 22;22(11). Epub 2021 May 22.

Department of Pediatric Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

: Spindle cell rhabdomyosarcoma (S-RMS) is a rare tumor that was previously considered as an uncommon variant of embryonal RMS (ERMS) and recently reclassified as a distinct RMS subtype with NCOA2, NCOA1, and VGLL2 fusion genes. In this study, we established a cell line (S-RMS1) derived from a four-month-old boy with infantile spindle cell RMS harboring gene fusion. : Morphological and molecular characteristics of S-RMS1 were analyzed and compared with two RMS cell lines, RH30 and RD18. Read More

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Intracranial non-myxoid angiomatoid fibrous histiocytoma with transcript fusion treated with doxorubicin: A case report.

Mol Clin Oncol 2021 Jul 9;15(1):131. Epub 2021 May 9.

Department of Neuro-Oncology, East Group Hospital, Hospices Civils de Lyon, 69677 Lyon, France.

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that has only been reported in the central nervous system in case reports. After surgery, patients exhibit tumor recurrence. Pathological diagnosis of AHF remains difficult, especially in sites other than skin. Read More

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A novel BRD4-LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expression.

Genes Chromosomes Cancer 2021 May 27. Epub 2021 May 27.

Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Malignant epithelioid soft tissue tumors encompass a wide spectrum of lesions. Among them, Epithelioid Malignant Peripheral Nerve Sheath Tumors (MPNST) constitute a distinct subgroup, accounting for <5% of all MPNST. Epithelioid MPNST are infrequently associated with neurofibromatosis type 1, occasionally arise in a schwannoma and show diffuse S100 and CD34 expression, often combined with INI-1 loss. Read More

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Synthetic Promoters from Strawberry Vein Banding Virus (SVBV) and Dahlia Mosaic Virus (DaMV).

Mol Biotechnol 2021 May 26. Epub 2021 May 26.

Division of Plant and Microbial Biotechnology, Institute of Life Sciences, NALCO Square, Chandrasekharpur, Bhubaneswar, Odisha, 751023, India.

We have constructed two intra-molecularly shuffled promoters, namely S100 and D100. The S100 recombinant promoter (621 bp) was generated by ligation of 250 bp long upstream activation sequence (UAS) of Strawberry vein banding virus (SV10UAS; - 352 to - 102 relative to TSS) with its 371 bp long TATA containing core promoter domain (SV10CP; - 352 to + 19). Likewise, 726 bp long D100 promoter was constructed by fusion of 170 bp long UAS of Dahlia mosaic virus (DaMV14UAS; - 203 to - 33) with its 556 bp long core promoter domain (DaMV4CP; - 474 to + 82). Read More

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Advances in understanding the molecular pathology of gynecological malignancies: the role and potential of RNA sequencing.

Int J Gynecol Cancer 2021 May 20. Epub 2021 May 20.

Metabolism, Digestion and Reproduction, Imperial College London, London, UK

For many years technological limitations restricted the progress of identifying the underlying genetic causes of gynecologicalcancers. However, during the past decade, high-throughput next-generation sequencing technologies have revolutionized cancer research. RNA sequencing has arisen as a very useful technique in expanding our understanding of genome changes in cancer. Read More

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Familial thrombocytopenia: The long and short of it.

J Exp Med 2021 Jun 20;218(6). Epub 2021 May 20.

Medical Research Council (MRC) Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, National Institute for Health Research Biomedical Research Centre, University of Oxford, Oxford, UK.

In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Read More

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

BMC Med Genomics 2021 May 17;14(1):130. Epub 2021 May 17.

Department of Hematology, Institute of Hematology, Changhai Hospital, 168 Changhai Road, Shanghai, 200433, China.

Background: The nucleoporin 98 (NUP98)-paired related homeobox 1 (PMX1) fusion gene, which results from t(1;11)(q23;p15), is rare in patients with acute myeloid leukemia (AML). Currently, only two cases of chronic myeloid leukemia in the accelerated phase or blast crisis and three cases of therapy-related AML have been reported. Here, we first report a patient with de novo AML carrying the NUP98-PMX1 fusion gene. Read More

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Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1-SSX1 fusions.

Genes Chromosomes Cancer 2021 May 14. Epub 2021 May 14.

Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Undifferentiated sarcomas remain difficult to classify. Despite the remarkable advances in sarcoma classification made by the increased application of RNA sequencing in clinical practice, the unexpected result of a novel gene fusion raises further questions regarding the tumor histogenesis and subclassification. In this study, we present two high grade sarcomas with epithelioid phenotype occurring in the deep-soft tissues (shoulder, thigh) of young adults which based on the non-specific pathologic findings were deemed unclassified and subjected to targeted RNA sequencing for further diagnostic interpretation. Read More

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Speckled 100 kDa gene in pigs: Alternative splicing, subcellular localization, and response to interferon-α stimulation.

Gene 2021 Jul 11;791:145710. Epub 2021 May 11.

Institute of Animal Husbandry, Heilongjiang Academy of Agricultural Sciences, Harbin 150086, China. Electronic address:

Speckled 100 kDa (Sp100) plays an important role in the antiviral immune response, however, little is known about porcine Sp100. In this study, porcine Sp100 was cloned and its response to interferon (IFN) α was identified. We obtained the cDNA (V1) of the gene, SP100, and seven alternative splicing variants (V2-8). Read More

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Fusion Genes in Breast Cancer.

Adv Exp Med Biol 2021 ;1187:147-157

Department of Surgery, Seoul National University College of Medicine, Seoul, South Korea.

Fusion gene is a hybrid form of two distinct genes resulting in broad spectrum of downstream pathway alterations. Gene fusion events are mostly from genomic rearrangements though diverse mechanisms have now been identified from in-depth analyses of next generation sequencing data. While profound level of genomic, transcriptomic driver alterations have been identified, till now, not many gene fusions are found to be the 'driver' of cancer development nor progression. Read More

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Ossifying low grade endometrial stromal sarcoma with PHF1-BRD8 fusion.

Cancer Genet 2021 Apr 22;256-257:81-85. Epub 2021 Apr 22.

Department of Pathology, Taipei Veterans General Hospital, No. 201, Sec. 2, Shih-Pai Road, Taipei 11217, Taiwan; Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Low-grade endometrial stromal sarcoma and ossifying fibromyxoid tumors are two types of mesenchymal tumors that share no similarities in terms of site, sex, and morphological characteristics. They are rare, low grade tumors of uncertain lineage, with no definite immunological markers. Interestingly, a common PHF1 gene- related rearrangement was observed in these two tumors. Read More

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Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer's disease.

Genome Med 2021 May 4;13(1):76. Epub 2021 May 4.

Cajal Neuroscience, 1616 Eastlake Avenue East, Suite 208, Seattle, WA, 98102, USA.

Background: Alzheimer's disease (AD) is an incurable neurodegenerative disease currently affecting 1.75% of the US population, with projected growth to 3.46% by 2050. Read More

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HERV-Derived Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages.

Int J Mol Sci 2021 Apr 26;22(9). Epub 2021 Apr 26.

Department of Epigenetics, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan.

(1) Background: The gene in humans is derived from an envelope () gene of a human endogenous retrovirus group, HERV-P(b). The gene reportedly has a conserved open reading frame (ORF) in Old World monkeys. Although its forced expression led to cell-fusion in an ex vivo cell culture system, like other -derived genes such as and - its mRNA expression is not placenta-specific, but almost ubiquitous, albeit being quite low in human tissues and organs, implying a distinct role for . Read More

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Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates Gene Expression in t(4;11) Leukemia Cells.

Int J Mol Sci 2021 Apr 28;22(9). Epub 2021 Apr 28.

CEINGE Advanced Biotechnologies s.c. a r.l., via G. Salvatore, 486, 80145 Naples, Italy.

The chromosomal translocation t(4;11) marks an infant acute lymphoblastic leukemia associated with dismal prognosis. This rearrangement leads to the synthesis of the MLL-AF4 chimera, which exerts its oncogenic activity by upregulating transcription of genes involved in hematopoietic differentiation. Crucial for chimera's aberrant activity is the recruitment of the AF4/ENL/P-TEFb protein complex. Read More

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The Quandary of DNA-Based Treatment Assessment in De Novo Metastatic Prostate Cancer in the Era of Precision Oncology.

J Pers Med 2021 Apr 22;11(5). Epub 2021 Apr 22.

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital-Radium Hospital, 0424 Oslo, Norway.

Guidelines for genetic testing have been established for multiple tumor types, frequently indicating the most confident molecularly targeted treatment options. However, considering the often-complex presentation of individual cancer patients, in addition to the combinatorial complexity and inherent uncertainties of molecular findings, deriving optimal treatment strategies frequently becomes very challenging. Here, we report a comprehensive analysis of a 68-year-old male with metastatic prostate cancer, encompassing pathology and MRI findings, transcriptomic results, and key genomics findings from whole-exome sequencing, both somatic aberrations and germline variants. Read More

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, a Vacuolar-Localized Na/H Antiporter, Positively Regulates Salt Response in Upland Cotton.

Int J Mol Sci 2021 Apr 14;22(8). Epub 2021 Apr 14.

Collaborative Innovation Center of Henan Grain Crops, Agronomy College, Henan Agricultural University, Zhengzhou 450002, China.

Vacuolar sodium/proton (Na/H) antiporters (NHXs) can stabilize ion contents to improve the salt tolerance of plants. Here, was cloned and characterized from upland cotton (). Phylogenetic and sequence analyses showed that belongs to the vacuolar-type NHXs. Read More

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[The influence of peripheral blood sample storage and delivery on the quantitative detection result of BCR-ABL (P210) transcript levels].

Zhonghua Xue Ye Xue Za Zhi 2021 Mar;42(3):224-229

Department of Hematology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China.

To explore the influence of storage and delivery conditions of the peripheral blood samples from patients with chronic myeloid leukemia (CML) on the real-time quantitative PCR (RQ-PCR) detection of the BCR-ABL (P210) transcript levels. The peripheral blood samples of 84 CML patients were collected. The same sample was divided into different groups according to storage time (0, 6, 12, 24, 48, and 72 h) , temperature (room temperature, 18-24 ℃; low temperature, 2-8 ℃) , and vibration conditions (3, 6, and 12 h) . Read More

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Detection of novel and recurrent conjoined genes in non-Hodgkin B-cell lymphoma.

J Clin Exp Hematop 2021 Jun 20;61(2):71-77. Epub 2021 Apr 20.

Center for Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine, Kyoto, Japan.

For this study, we investigated comprehensive expression of conjoined genes (CGs) in non-Hodgkin B-cell lymphoma (B-NHL) cell line KPUM-UH1 by using paired-end RNA sequencing. Furthermore, we analyzed the expression of these transcripts in an additional 21 cell lines, 37 primary samples of various malignancies and peripheral blood mononuclear cells of four normal individuals. Seventeen CGs were detected in KPUM-UH1: CTBS-GNG5, SRP9-EPHX1, RMND5A-ANAPC, OTX1-EHBP1, ATF2-CHN1, PRKAA1-TTC33, LARP1-MRPL22, LOC105379697-BAK1, TIAM2-SCAF8, SPAG1-VPS13B, WBP1L-CNNM2, NARS2-GAB2, CTSC-RAB38, VAMP1-CD27-AS1, LRRC37A2-NSF, UBA2-WTIP and ZNF600-ZNF611. Read More

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The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior.

Diagn Pathol 2021 Apr 20;16(1):32. Epub 2021 Apr 20.

Emeritus Professor, Kyung Hee University, School of Medicine Vice President of Asia, International Academy of Pathology, U2Labs, Jangwon Medical Foundation 68 Geoma-ro, Songpa-gu, Seoul, 05755, South Korea.

Background: Solitary Fibrous Tumor (SFT) is a distinct soft tissue neoplasm associated with NAB2-STAT6 gene fusion. It can involve a number of anatomic sites and exhibits a wide spectrum of histological features.

Main Body: Apart from diversity in morphological features seen even in conventional SFT, two histologic variants (fat-forming and giant cell-rich) are also recognized. Read More

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14q32 rearrangements deregulating BCL11B mark a distinct subgroup of T and myeloid immature acute leukemia.

Blood 2021 04 19. Epub 2021 Apr 19.

University of Perugia, Perugia, Italy.

Acute leukemias (AL) of ambiguous lineage are a heterogeneous group of high-risk leukemias characterized by co-expression of myeloid and lymphoid markers. In this study, we identified a distinct subgroup of immature acute leukemias characterized by a broadly variable phenotype, covering acute myeloid leukemia (AML M0 or M1), T/myeloid mixed phenotype acute leukemia (T/M MPAL), and early T-cell precursor acute lymphoblastic leukemia (ETP-ALL). Rearrangements at 14q32/BCL11B are the cytogenetic hallmark of this entity. Read More

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CRISPR Interference To Inducibly Repress Gene Expression in Chlamydia trachomatis.

Infect Immun 2021 Jun 16;89(7):e0010821. Epub 2021 Jun 16.

Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.

The ability to inducibly repress gene expression is critical to the study of organisms, like Chlamydia, with reduced genomes in which the majority of genes are likely to be essential. We recently described the feasibility of a CRISPR interference (CRISPRi) system to inducibly repress gene expression in Chlamydia trachomatis. However, the initial system suffered from some drawbacks, primarily leaky expression of the anhydrotetracycline (aTc)-inducible dCas9 ortholog and plasmid instability, which prevented population-wide studies (e. Read More

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[Comparison of prognostic significance between multiparameter flow cytometry and real-time quantitative polymerase chain reaction in the detection of minimal residual disease of Philadelphia chromosome-positive acute B lymphocytic leukemia before allogeneic hematopoietic stem cell transplantation].

Zhonghua Xue Ye Xue Za Zhi 2021 Feb;42(2):116-123

Peking University People's Hospital & Peking University Institute of Hematology, National Clinical Research Center for Hematologic Disease, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, Beijing 100044, China.

To explore the different values of minimal residual disease (MRD) detection by multiparameter flow cytometry (MFC) and real-time quantitative polymerase chain reaction (RQ-PCR) before hematopoietic stem cell transplantation (HSCT) for predicting relapse, leukemia-free survival (LFS) , and overall survival (OS) in Philadelphia chromosome-positive ALL (Ph(+) ALL) . A retrospective study (=280) was performed. MRD was determined using multiparameter flow cytometry and RQ-PCR. Read More

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February 2021

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

J Exp Med 2021 Jun;218(6)

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA.

Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). Read More

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Strain Construction for Intracellular Metabolic Pathway Localization in Y. lipolytica.

Methods Mol Biol 2021 ;2307:147-157

Environmental and Molecular Sciences Laboratory, PNNL, Richland, WA, USA.

Pathway localization by fluorophore or epitope tagging can be accomplished through a multi-staged DNA construct and confirmation process, to generate a series of successfully tagged protein targets. Prerequisite conditions for this process in Y. lipolytica are auxotrophic selection (leu2 or ura3), impaired non-homologous end joining by deletion or impairment of ku70, and plasmids or gene pieces for epitope-selection cassette construction. Read More

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January 2021

Synovial sarcoma of the stomach: a case report and a systematic review of literature.

Clin J Gastroenterol 2021 Apr 12. Epub 2021 Apr 12.

Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Worldwide, 5-10% of soft tissue sarcoma cases in adults have been attributed to synovial sarcoma. It is often reported to occur near the joints of the arm, neck, and leg but rarely in the gastrointestinal tract. In this study, we report a case of synovial sarcoma arising in the stomach of a 59-year-old woman. Read More

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Nr4a1 promotes cell adhesion and fusion by regulating Zeb1 transcript levels in myoblasts.

Biochem Biophys Res Commun 2021 Jun 8;556:127-133. Epub 2021 Apr 8.

Department of Gerontology, ShengJing Hospital of China Medical University, Shenyang, Liaoning, 110004, China. Electronic address:

Nuclear receptor subfamily 4 group A member 1 (NR4A1) acts as a myogenic factor in muscle development and regeneration; however, it remains unclear how Nr4a1 regulates myoblast physiology. In this study, report a role for Nr4a1-mediated regulation of cell adhesion in myoblast and muscle tissue. Nr4a1-overexpression myoblast, Nr4a1-konckdown myoblast and mice gastrocnemius muscle following an injection with an adenovirus vector expression Nr4a1 (Nr4a1-AAV) were used to observe the changes in cell adhesion. Read More

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