BackgroundClassical randomisation of clinical trial patients creates a source of genetic variance that may be contributing to the high failure rate seen in neurodegenerative disease trials. Our objective was to quantify genetic difference between randomised trial arms and determine how imbalance can affect trial outcomes. Methods5851 patients with Parkinson’s disease of European ancestry data and two simulated virtual cohorts based on public data were used. Data were resampled at different sizes...
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Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches.
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BackgroundAlveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a lethal disorder of lung development. ACDMPV is associated with haploinsufficiency of the transcription factor FOXF1, which plays an important role in the development of the lung and intestine. CNVs upstream of the FOXF1 gene have also been associated with an ACDMPV phenotype, but mechanism(s) by which these deletions disrupt lung development are not well understood. The objective of our study is to gain...
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BackgroundIntragenic NRXN1 deletions are susceptibility variants for neurodevelopmental disorders; however, their clinical interpretation is often unclear. Therefore, a literature study and an analysis of 43 previously unpublished deletions are provided. MethodsThe literature cohort covered 629 heterozygous NRXN1 deletions: 148 in controls, 341 in probands and 140 in carrier relatives, and was used for clinical hypothesis testing. Exact breakpoint determination was performed for 43 in-house deletions....
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BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype–phenotype correlations to improve genetic counselling and patients’...
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BackgroundPrimary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests. MethodsThe diagnostic utility of multigene panel next-generation sequencing (NGS) was evaluated in 161 unrelated families from multiple population ancestries. ResultsMost (82%) families had affected individuals with biallelic or hemizygous (75%)...
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BackgroundInactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases. LS is a cancer predisposition causing early onset colorectal and endometrial cancer. Nonsense and frameshift alterations unambiguously cause LS. The phenotype of missense mutations that only alter a single amino acid is often unclear. These variants of uncertain significance (VUS) hinder LS diagnosis and family screening and therefore functional tests are urgently needed. We developed...
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BackgroundThe molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients. ObjectiveThis study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya. MethodsRare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) reads depth data and whole genome high density SNP array data. WES and SNP array data from an additional cohort of 115 unrelated moyamoya probands...
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BackgroundInherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated. Methods CDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow-up studies for familial melanoma. The carriers’ responses...
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Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at APC extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic...
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Background The association among gallbladder disease, cholecystectomy, and pancreatic cancer is unclear. Moreover, time interval between gallbladder disease or cholecystectomy and pancreatic cancer diagnosis is not considered in most previous studies. Aim To quantify the association among gallbladder disease, cholecystectomy, and pancreatic cancer, considering time since first diagnosis of gallbladder disease or cholecystectomy. Methods We used data from nine case-control studies within...
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Publication date: June 2020Source: European Journal of Cancer, Volume 132Author(s): Adile Orhan, Rasmus P. Vogelsang, Malene B. Andersen, Michael T. Madsen, Emma R. Hölmich, Hans Raskov, Ismail Gögenur
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Publication date: June 2020Source: European Journal of Cancer, Volume 132Author(s): M. Picardi, R. Fonti, R. Della Pepa, C. Giordano, N. Pugliese, E. Nicolai, M. Salvatore, C. Mainolfi, P. Venetucci, M.G. Rascato, I. Cappuccio, M. Mascolo, E. Vigliar, G. Troncone, S. Del Vecchio, F. Pane
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Publication date: Available online 23 April 2020Source: European Journal of CancerAuthor(s): Alessandro Leonetti, Francesco Facchinetti, Teresa Zielli, Elena Brianti, Marcello Tiseo
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Cancers, Vol. 12, Pages 1045: Transmembrane Activator and CAML Interactor (TACI): Another Potential Target for Immunotherapy of Multiple Myeloma? Cancers doi: 10.3390/cancers12041045 Authors: Shengli Xu Kong-Peng Lam Multiple myeloma (MM) has emerged as the next most likely oncological or hematological disease indication amenable for cellular immunotherapy. Much of the attention has been focused on B cell maturation antigen (BCMA) as a unique cell surface protein on myeloma...
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Cancers, Vol. 12, Pages 1046: Oligoprogressive Non-Small-Cell Lung Cancer under Treatment with PD-(L)1 Inhibitors Cancers doi: 10.3390/cancers12041046 Authors: Stephan Rheinheimer Claus-Peter Heussel Philipp Mayer Lena Gaissmaier Farastuk Bozorgmehr Hauke Winter Felix J. Herth Thomas Muley Stephan Liersch Helge Bischoff Mark Kriegsmann Rami A. El Shafie Albrecht Stenzinger Michael Thomas Hans-Ulrich Kauczor Petros Christopoulos...
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Cancers, Vol. 12, Pages 1044: Identification of Dietary Pattern Networks Associated with Gastric Cancer Using Gaussian Graphical Models: A Case-Control Study Cancers doi: 10.3390/cancers12041044 Authors: Madhawa Gunathilake Jeonghee Lee Il Ju Choi Young-Il Kim Jeongseon Kim Gaussian graphical models (GGMs) are novel approaches to deriving dietary patterns that assess how foods are consumed in relation to one another. We aimed to apply GGMs to identify dietary patterns...
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Cancers, Vol. 12, Pages 1043: The Efficiency of Gene Electrotransfer in Breast-Cancer Cell Lines Cultured on a Novel Collagen-Free 3D Scaffold Cancers doi: 10.3390/cancers12041043 Authors: Elisabetta Sieni Monica Dettin Mariangela De Robertis Bianca Bazzolo Maria Teresa Conconi Annj Zamuner Ramona Marino Flavio Keller Luca Giovanni Campana Emanuela Signori Gene Electro-Transfer (GET) is a powerful method of DNA delivery with great potential for...
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Cancers, Vol. 12, Pages 1048: TrkB-Induced Inhibition of R-SMAD/SMAD4 Activation is Essential for TGF-β-Mediated Tumor Suppressor Activity Cancers doi: 10.3390/cancers12041048 Authors: Min Soo Kim Wook Jin TrkB-mediated activation of the IL6/JAK2/STAT3 signaling pathway is associated with the induction of the epithelial–mesenchymal transition (EMT) program and the acquisition of metastatic potential by tumors. Conversely, the transforming of growth factor-β...
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Cancers, Vol. 12, Pages 1047: Current Approaches for Combination Therapy of Cancer: The Role of Immunogenic Cell Death Cancers doi: 10.3390/cancers12041047 Authors: Zahra Asadzadeh Elham Safarzadeh Sahar Safaei Ali Baradaran Ali Mohammadi Khalil Hajiasgharzadeh Afshin Derakhshani Antonella Argentiero Nicola Silvestris Behzad Baradaran Cell death resistance is a key feature of tumor cells. One of the main anticancer therapies is increasing the...
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Cancers, Vol. 12, Pages 1050: DNA Damage/Repair Management in Cancers Cancers doi: 10.3390/cancers12041050 Authors: Jehad F. Alhmoud John F. Woolley Ala-Eddin Al Moustafa Mohammed Imad Malki DNA damage is well recognized as a critical factor in cancer development and progression. DNA lesions create an abnormal nucleotide or nucleotide fragment, causing a break in one or both chains of the DNA strand. When DNA damage occurs, the possibility of generated mutations increases....
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Cancers, Vol. 12, Pages 1049: Nanoparticles to Improve the Efficacy of Peptide-Based Cancer Vaccines
Cancers, Vol. 12, Pages 1049: Nanoparticles to Improve the Efficacy of Peptide-Based Cancer Vaccines Cancers doi: 10.3390/cancers12041049 Authors: Anna Lucia Tornesello Maria Tagliamonte Maria Lina Tornesello Franco M. Buonaguro Luigi Buonaguro Nanoparticles represent a potent antigen presentation and delivery system to elicit an optimal immune response by effector cells targeting tumor-associated antigens expressed by cancer cells. Many types of nanoparticles have...
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Cancers, Vol. 12, Pages 1042: 18F-FDG and 11C-Methionine PET/CT in Newly Diagnosed Multiple Myeloma Patients: Comparison of Volume-Based PET Biomarkers Cancers doi: 10.3390/cancers12041042 Authors: Maria I Morales-Lozano Oliver Viering Samuel Samnick Paula Rodriguez-Otero Andreas K Buck Maria Marcos-Jubilar Leo Rasche Elena Prieto K Martin Kortüm Jesus San-Miguel Maria J. Garcia-Velloso Constantin Lapa 11C-methionine (11C-MET) is a new...
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Cancers, Vol. 12, Pages 1041: Functional and Clinical Impact of CircRNAs in Oral Cancer Cancers doi: 10.3390/cancers12041041 Authors: Ion Cristóbal Cristina Caramés Jaime Rubio Marta Sanz-Alvarez Melani Luque Juan Madoz-Gúrpide Federico Rojo Jesús García-Foncillas The increasing number of recently published works regarding the role of circular RNAs (circRNAs) in oral cancer highlights the key contribution of this novel class of endogenous noncoding RNAs...
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Cancers, Vol. 12, Pages 1040: Enhancing Antitumor Efficacy of Heavily Vascularized Tumors by RAMBO Virus through Decreased Tumor Endothelial Cell Activation Cancers doi: 10.3390/cancers12041040 Authors: Mitra Nair Maninder Khosla Yoshihiro Otani Margaret Yeh Flora Park Toshihiko Shimizu Jin Muk Kang Chelsea Bolyard Jun-Ge Yu Yeshavanth Kumar Banasavadi-Siddegowda Gonzalo Lopez Balveen Kaur Raphael E. Pollock Tae Jin Lee Matthew Old...
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Cancers, Vol. 12, Pages 1039: Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma Cancers doi: 10.3390/cancers12041039 Authors: Sophie Thornton Sarah E. Coupland Lisa Olohan Julie S. Sibbring John G. Kenny Christiane Hertz-Fowler Xuan Liu Sam Haldenby Heinrich Heimann Rumana Hussain Natalie Kipling Azzam Taktak Helen Kalirai Uveal melanoma (UM)...
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Cancers, Vol. 12, Pages 1038: β-Caryophyllene Inhibits Cell Proliferation through a Direct Modulation of CB2 Receptors in Glioblastoma Cells Cancers doi: 10.3390/cancers12041038 Authors: Natasha Irrera Angela D’Ascola Giovanni Pallio Alessandra Bitto Federica Mannino Vincenzo Arcoraci Michelangelo Rottura Antonio Ieni Letteria Minutoli Daniela Metro Mario Vaccaro Domenica Altavilla Francesco Squadrito Glioblastomas are aggressive cancers...
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Cancers, Vol. 12, Pages 1033: Can Hemp Help? Low-THC Cannabis and Non-THC Cannabinoids for the Treatment of Cancer Cancers doi: 10.3390/cancers12041033 Authors: Farjana Afrin Mengna Chi Andrew L. Eamens Ryan J. Duchatel Alicia M. Douglas Jennifer Schneider Craig Gedye Ameha S. Woldu Matthew D. Dun Cannabis has been used to relieve the symptoms of disease for thousands of years. However, social and political biases have limited effective interrogation...
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Cancers, Vol. 12, Pages 1037: Cancer-Selective Treatment of Cancerous and Non-Cancerous Human Cervical Cell Models by a Non-Thermally Operated Electrosurgical Argon Plasma Device Cancers doi: 10.3390/cancers12041037 Authors: Lukas Feil André Koch Raphael Utz Michael Ackermann Jakob Barz Matthias Stope Bernhard Krämer Diethelm Wallwiener Sara Y. Brucker Martin Weiss Cold atmospheric plasma (CAP) treatment is developing as a promising option for...
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Cancers, Vol. 12, Pages 1036: The Role of CCL21/CCR7 Chemokine Axis in Breast Cancer Progression Cancers doi: 10.3390/cancers12041036 Authors: Balsam Rizeq Mohammed Imad Malki Breast cancer is a leading cause of cancer-related deaths worldwide, predominantly caused by metastasis. It is generally accepted that the pattern of breast cancer metastasis is largely determined by the interaction between the chemokine receptors on cancer cells and the chemokines expressed at the sites...
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Cancers, Vol. 12, Pages 1034: Effect of Transgene Location, Transcriptional Control Elements and Transgene Features in Armed Oncolytic Adenoviruses Cancers doi: 10.3390/cancers12041034 Authors: Martí Farrera-Sal Cristina Fillat Ramon Alemany Clinical results with oncolytic adenoviruses (OAds) used as antitumor monotherapies show limited efficacy. To increase OAd potency, transgenes have been inserted into their genome, a strategy known as “arming OAds”....
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Cancers, Vol. 12, Pages 1035: Carfilzomib Based Treatment Strategies in the Management of Relapsed/Refractory Multiple Myeloma with Extramedullary Disease Cancers doi: 10.3390/cancers12041035 Authors: Xiang Zhou Patricia Flüchter Katharina Nickel Katharina Meckel Janin Messerschmidt David Böckle Sebastian Knorz Maximilian Johannes Steinhardt Franziska Krummenast Sophia Danhof Hermann Einsele K. Martin Kortüm Leo Rasche Published experience...
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IntroductionBrentuximab vedotin (BV) is an antibody-drug conjugate composed by an anti-CD30 monoclonal antibody and the anti-microtubule agent monomethyl auristatin E, used for the treatment of relapsed/refractory Hodgkin's lymphoma and non-Hodgkin's lymphoma.Peripheral neuropathy is a frequent adverse event of BV treatment, affecting up to 60% to 70% of patients.1 It usually consists of a mild axonal, length-dependent, sensory neuropathy, characterised by numbness and tingling of fingers and toes,1...
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Pollination is an ecosystem function of global importance. Yet, who visits the flower of specific plants, how the composition of these visitors varies in space and time and how such variation translates into pollination services are hard to establish. The use of DNA barcodes allows us to address ecological patterns involving thousands of taxa that are difficult to identify. To clarify the regional variation in the visitor community of a widespread flower resource, we compared the composition of the...
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Drought is a limiting factor for crop production, especially in arid and semi-arid climates. In this study, Sorghum bicolor plants were inoculated, or not, with Rhizophagus irregularis, an arbuscular mycorrhizal (AM) strain typical for temperate climates, or Rhizophagus arabicus, a strain endemic to hyper-arid ecosystems. Plants were grown under well-watered or drought conditions in compartmented microcosms. Transpiration rates, plant growth, and nutrient uptake (using; 15; N as a tracer) were determined...
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In plants, RNA silencing-based antiviral defense generates viral small RNAs (sRNAs) faithfully representing the viral genomes. We employed sRNA sequencing and bioinformatics (sRNA-omics) to characterize antiviral defense and to reconstruct the full genomic sequences and their variants in the evolving viral quasispecies in cultivated solanaceous plants carrying mixed infections. In naturally infected Solanum tuberosum (potato), one case study revealed a virome comprising Potato virus Y (genus Potyvirus)...
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The plant pathogen; Pseudomonas syringae; injects about 30 different virulence proteins, so-called effectors, via a type III secretion system into plant cells to promote disease. Although some of these effectors are known to suppress either pattern-triggered immunity (PTI) or effector-triggered immunity (ETI), the mode of action of most of them remains unknown. Here, we used transient expression in; Nicotiana benthamiana; , to test the abilities of type III effectors of; Pseudomonas syringae; pv....
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Establishment of symbiosis between legumes and nitrogen-fixing rhizobia depends on bacterial Nod factors (NFs) that trigger symbiosis-related NF signaling in host plants. NFs are modified oligosaccharides of chitin with a fatty acid moiety. NFs can be cleaved and inactivated by host enzymes, such as MtNFH1 (MEDICAGO TRUNCATULA NOD FACTOR HYDROLASE1). In contrast to related chitinases, MtNFH1 hydrolyzes neither chitin nor chitin fragments, indicating a high cleavage preference for NFs. Here, we provide...
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Nonstructural carbohydrates (NSCs) are important for the growth and survival of trees. Drought may lead to a decrease in tree growth and to NSC depletion, whereas increased soil moisture in otherwise dry ecosystems may increase growth and NSC concentrations. A long-term (13 yr) irrigation experiment was conducted in a Pinus sylvestris-dominated forest located at the dry margin of the species in southern Switzerland. We measured the relative leaf area, growth, NSCs, needle δ; 13; C, [N] and [P] in...
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