3,137 results match your criteria common deleted

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

MiR-499a prevents astrocytes mediated inflammation in ischemic stroke by targeting PTEN.

Noncoding RNA Res 2021 Sep 28;6(3):146-152. Epub 2021 Sep 28.

Department of Pharmacy, The First Affiliated Hospital of Harbin Medical University, 23 Youzheng Street, Harbin, Heilongjiang, 150001, PR China.

Introduction: Ischemic stroke (IS) is a common and severe neurological disorder and is associated with high rates of mortality and morbidity. Inflammatory reaction in astrocytes is one of the important pathological factors of stroke. Improved understanding of the underlying molecular mechanisms should aid better treatment of the disease. Read More

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September 2021

A KDM4-DBC1-SIRT1 Axis Contributes to TGF-b Induced Mesenchymal Transition of Intestinal Epithelial Cells.

Front Cell Dev Biol 2021 22;9:697614. Epub 2021 Sep 22.

Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Intestinal fibrosis is one of the common pathophysiological processes in inflammatory bowel diseases (IBDs). Previously it has been demonstrated that epithelial-mesenchymal transition (EMT) can contribute to the development of intestinal fibrosis. Here we report that conditional ablation of SIRT1, a class III lysine deacetylase, in intestinal epithelial cells exacerbated 2, 4, 6-trinitro-benzene sulfonic acid (TNBS) induced intestinal fibrosis in mice. Read More

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September 2021

JNJ-64041757 (JNJ-757), a Live, Attenuated, Double-Deleted -Based Immunotherapy in Patients With NSCLC: Results From Two Phase 1 Studies.

JTO Clin Res Rep 2021 Feb 5;2(2):100103. Epub 2020 Oct 5.

Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Introduction: JNJ-64041757 (JNJ-757) is a live, attenuated, double-deleted -based immunotherapy expressing human mesothelin. JNJ-757 was evaluated in patients with advanced NSCLC as monotherapy (phase 1) and in combination with nivolumab (phase 1b/2).

Methods: Patients with stage IIIB/IV NSCLC who had received previous therapy were treated with JNJ-757 (1 × 10 or 1 × 10 colony-forming units [CFUs]) alone (NCT02592967) or JNJ-757 (1 × 10 CFU) plus intravenous nivolumab 240 mg (NCT03371381). Read More

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February 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

Novel Coagulation Factor VIII Gene Therapy in a Mouse Model of Hemophilia A by Lipid-Coated FeO Nanoparticles.

Biomedicines 2021 Aug 30;9(9). Epub 2021 Aug 30.

Department of Life Sciences, Ph.D. Program in Translational Medicine, National Chung Hsing University, Taichung 402, Taiwan.

Hemophilia A is a bleeding disease caused by loss of coagulation factor VIII (FVIII) function. Although prophylactic FVIII infusion prevents abnormal bleeding, disability and joint damage in hemophilia patients are common. The cost of treatment is among the highest for a single disease, and the adverse effects of repeated infusion are still an issue that has not been addressed. Read More

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Hypoxia inducible factor signaling in breast tumors controls spontaneous tumor dissemination in a site-specific manner.

Commun Biol 2021 09 23;4(1):1122. Epub 2021 Sep 23.

Graduate Program in Cancer Biology, Vanderbilt University, Nashville, TN, USA.

Hypoxia is a common feature in tumors and induces signaling that promotes tumor cell survival, invasion, and metastasis, but the impact of hypoxia inducible factor (HIF) signaling in the primary tumor on dissemination to bone in particular remains unclear. To better understand the contributions of hypoxia inducible factor 1 alpha (HIF1α), HIF2α, and general HIF pathway activation in metastasis, we employ a PyMT-driven spontaneous murine mammary carcinoma model with mammary specific deletion of Hif1α, Hif2α, or von Hippel-Lindau factor (Vhl) using the Cre-lox system. Here we show that Hif1α or Hif2α deletion in the primary tumor decreases metastatic tumor burden in the bone marrow, while Vhl deletion increases bone tumor burden, as hypothesized. 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

Distinct clinical characteristics of DUX4 and PAX5 altered childhood B-lymphoblastic leukemia.

Blood Adv 2021 Sep 21. Epub 2021 Sep 21.

National University of Singapore, Singapore, Singapore.

In childhood B-ALL, among the recently described subtypes were DUX4 and PAX5 altered (PAX5alt). Using whole transcriptome RNA sequencing (RNA-Seq) in 377 B-ALL children from MaSpore ALL 2003/2010 (MS2003/MS2010) studies, we found that, after hyperdiploid and ETV6-RUNX1, the third and fourth most common subtypes were DUX4 (n= 51; 14%) and PAX5alt (n= 36; 10%). DUX4 also formed the largest genetic subtype among patients with poor Day 33 MRD (n=12/44). Read More

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September 2021

U2af1 is a haplo-essential gene required for hematopoietic cancer cell survival in mice.

J Clin Invest 2021 Sep 21. Epub 2021 Sep 21.

Department of Medicine, Washington University School of Medicine, St. Louis, United States of America.

Somatic mutations in the spliceosome gene U2AF1 are common in patients with myelodysplastic syndromes. U2AF1 mutations that code for the most common amino acid substitutions are always heterozygous, and the retained wild-type allele is expressed, suggesting that mutant hematopoietic cells may require the residual wild-type allele to be viable. We show that hematopoiesis and RNA splicing in U2af1 heterozygous knock-out mice was similar to control mice, but that deletion of the wild-type allele in U2AF1(S34F) heterozygous mutant expressing hematopoietic cells (i. Read More

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September 2021

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.

Hum Genet 2021 Sep 18. Epub 2021 Sep 18.

Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

An estimated 5-11% of patients with neurofibromatosis type-1 (NF1) harbour large deletions encompassing the NF1 gene and flanking regions. These NF1 microdeletions are subclassified into type 1, 2, 3 and atypical deletions which are distinguishable from each other by their extent and by the number of genes included within the deletion regions as well as the frequency of mosaicism with normal cells. Most common are type-1 NF1 deletions which encompass 1. Read More

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September 2021

SPOP and CHD1 alterations in prostate cancer: Relationship with PTEN loss, tumor grade, perineural infiltration, and PSA recurrence.

Prostate 2021 Sep 17. Epub 2021 Sep 17.

Departament of Health and Experimental Sciences, Universitat Pompeu Fabra, Barcelona, Spain.

Background: In the non-ETS fusion of prostate cancer (PCa) pathway, SPOP mutations emerge as a distinct oncogenic driver subclass. Both SPOP downregulation and mutation can lead to SPOP target stabilization promoting dysregulation of key regulatory pathways. CHD1 gene is commonly deleted in PCa. Read More

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September 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

Cataract-causing G91del mutant destabilised βA3 heteromers formation linking with structural stability and cellular viability.

Br J Ophthalmol 2021 Sep 6. Epub 2021 Sep 6.

Eye Center of the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China

Background/aims: Congenital cataracts, which are genetically heterogeneous eye disorders, result in visual loss in childhood around the world. CRYBA1/BA3 serves as an abundant structural protein in the lens, and forms homomers and heteromers to maintain lens transparency. In previous study, we identified a common cataract-causing mutation, βA3-glycine at codon 91 (G91del) (c. 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

Direct Observation of Electrically Conductive Pili Emanating from .

mBio 2021 08 31;12(4):e0220921. Epub 2021 Aug 31.

Department of Microbiology, University of Massachusetts-Amherst, Amherst, Massachusetts, USA.

Geobacter sulfurreducens is a model microbe for elucidating the mechanisms for extracellular electron transfer in several biogeochemical cycles, bioelectrochemical applications, and microbial metal corrosion. Multiple lines of evidence previously suggested that electrically conductive pili (e-pili) are an essential conduit for long-range extracellular electron transport in G. sulfurreducens. Read More

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Differential and Prognostic Significance of HOXB7 in Gliomas.

Front Cell Dev Biol 2021 11;9:697086. Epub 2021 Aug 11.

Department of Pathology, Beijing Ditan Hospital, Capital Medical University, Beijing, China.

Diffuse glioma is the most common primary tumor of the central nervous system. The prognosis of the individual tumor is heavily dependent on its grade and subtype. Homeobox B7 (HOXB7), a member of the homeobox family, is abnormally overexpressed in a variety of tumors. Read More

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Novel miR-5088-5p promotes malignancy of breast cancer by inhibiting DBC2.

Mol Ther Nucleic Acids 2021 Sep 8;25:127-142. Epub 2021 May 8.

Division of Radiation Biomedical Research, Korea Institute of Radiological & Medical Sciences, Seoul, Republic of Korea.

Breast cancer is the most common female cancer in the world. Despite the active research on metastatic breast cancer, the treatment of breast cancer patients is still difficult because the mechanism is not well known. Therefore, research on new targets and mechanisms for diagnosis and treatment of breast cancer patients is required. Read More

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September 2021

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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Hsa_circ_0006232 promotes laryngeal squamous cell cancer progression through FUS-mediated EZH2 stabilization.

Cell Cycle 2021 Sep 26;20(18):1799-1811. Epub 2021 Aug 26.

Department of Otolaryngology, Head and Neck Surgery, Henan Provincial People's Hospital; People's Hospital of Zhengzhou University; People's Hospital of Henan University, Zhengzhou, Henan, China.

Laryngeal squamous cell cancer (LSCC) is one of the most common malignant tumors in head and neck tumors. Our previous study has revealed that hsa_circ_0006232 is abnormally expressed in LSCC. This study attempts to verify the biological role of hsa_circ_0006232 in LSCC. Read More

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September 2021

A Live Olfactory Mouse Cytomegalovirus Vaccine, Attenuated for Systemic Spread, Protects against Superinfection.

J Virol 2021 Oct 25;95(21):e0126421. Epub 2021 Aug 25.

School of Chemistry and Molecular Biosciences, University of Queenslandgrid.1003.2, Brisbane, Australia.

Vaccination against the betaherpesvirus, human cytomegalovirus (HCMV) is a public health goal. However, HCMV has proved difficult to vaccinate against. Vaccination against single HCMV determinants has not worked, suggesting that immunity to a wider antigenic profile may be required. Read More

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October 2021

An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human Nephronophthisis.

Hum Mol Genet 2021 Aug 20. Epub 2021 Aug 20.

Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.

Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the histological features of human NPH in murine models. Read More

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Selective deletion of human leukocyte antigens protects stem cell-derived islets from immune rejection.

Cell Rep 2021 Aug;36(7):109538

Diabetes Center, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

Stem cell-based replacement therapies hold the promise to restore function of damaged or degenerated tissue such as the pancreatic islets in people with type 1 diabetes. Wide application of these therapies requires overcoming the fundamental roadblock of immune rejection. To address this issue, we use genetic engineering to create human pluripotent stem cells (hPSCs) in which the majority of the polymorphic human leukocyte antigens (HLAs), the main drivers of allogeneic rejection, are deleted. Read More

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Psychometric investigation of the affiliate stigma scale in Mexican Parkinson's disease caregivers: Development of a short form.

NeuroRehabilitation 2021 Aug 13. Epub 2021 Aug 13.

Department of Psychology, Virginia Commonwealth University, Richmond, VA, USA.

Background: Parkinson's disease (PD) caregivers, particularly in Latin America, may experience high levels of affiliate stigma due to their association with a person having a disability. The most common measure used of this construct in the literature, the Affiliate Stigma Scale, was validated using non-standard and questionable methods.

Objective: The purpose of this study was to investigate the factor structure and psychometric properties of the Spanish version of the Affiliate Stigma Scale with PD caregivers in Mexico using more widely accepted psychometric approaches including confirmatory and exploratory factor analyses (confirmatory factor analyses (CFAs) and exploratory factor analyses (EFAs)). Read More

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Outcomes Following Pars Plana Vitrectomy for Severe Ocular Trauma.

J Ophthalmic Vis Res 2021 Jul-Sep;16(3):408-414. Epub 2021 Jul 29.

St Thomas' Hospital, London, UK.

Purpose: To investigate outcomes and presenting characteristics for subjects undergoing pars plana vitrectomy for ocular trauma.

Methods: Retrospective study of 113 patients who underwent pars plana vitrectomy for severe ocular trauma at [name deleted to maintain the integrity of the review process] between 1999 and 2018. Data were collected on age, gender, initial and final visual acuity (LogMAR), mode of injury, type of injury, number of surgeries performed, follow-up duration, type of tamponade, presence of phthisis, and retinal detachment. Read More

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FOS Rescues Neuronal Differentiation of Sox2-Deleted Neural Stem Cells by Genome-Wide Regulation of Common SOX2 and AP1(FOS-JUN) Target Genes.

Cells 2021 07 12;10(7). Epub 2021 Jul 12.

Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.

The transcription factor SOX2 is important for brain development and for neural stem cells (NSC) maintenance. -deleted (Sox2-del) NSC from neonatal mouse brain are lost after few passages in culture. Two highly expressed genes, and , are strongly downregulated in Sox2-del NSC; we previously showed that or overexpression by lentiviral transduction fully rescues NSC's long-term maintenance in culture. Read More

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Preclinical validation of a live attenuated dermotropic Leishmania vaccine against vector transmitted fatal visceral leishmaniasis.

Commun Biol 2021 07 30;4(1):929. Epub 2021 Jul 30.

Division of Emerging and Transfusion Transmitted Diseases, CBER, FDA, Silver Spring, MD, USA.

Visceral Leishmaniasis (VL), a potentially fatal disease is caused by Leishmania donovani parasites with no vaccine available. Here we produced a dermotropic live attenuated centrin gene deleted Leishmania major (LmCen) vaccine under Good Laboratory Practices and demonstrated that a single intradermal injection confers robust and durable protection against lethal VL transmitted naturally via bites of L. donovani-infected sand flies and prevents mortality. Read More

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C-protein α-antigen modulates the lantibiotic thusin resistance in Streptococcus agalactiae.

Antonie Van Leeuwenhoek 2021 Oct 28;114(10):1595-1607. Epub 2021 Jul 28.

Laboratory for Molecular Microbiology, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444/a, 11042, Belgrade, Serbia.

Screening for producers of potent antimicrobial peptides, resulted in the isolation of Bacillus cereus BGNM1 with strong antimicrobial activity against Listeria monocytogenes. Genome sequence analysis revealed that BGNM1 contains the gene cluster associated with the production of the lantibiotic, thusin, previously identified in B. thuringiensis. Read More

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October 2021