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JOURNAL ARTICLE
Sanju Sinha, Rahulsimham Vegesna, Sumit Mukherjee, Ashwin V Kammula, Saugato Rahman Dhruba, Wei Wu, D Lucas Kerr, Nishanth Ulhas Nair, Matthew G Jones, Nir Yosef, Oleg V Stroganov, Ivan Grishagin, Kenneth D Aldape, Collin M Blakely, Peng Jiang, Craig J Thomas, Cyril H Benes, Trever G Bivona, Alejandro A Schäffer, Eytan Ruppin
Tailoring optimal treatment for individual cancer patients remains a significant challenge. To address this issue, we developed PERCEPTION (PERsonalized Single-Cell Expression-Based Planning for Treatments In ONcology), a precision oncology computational pipeline. Our approach uses publicly available matched bulk and single-cell (sc) expression profiles from large-scale cell-line drug screens. These profiles help build treatment response models based on patients' sc-tumor transcriptomics. PERCEPTION demonstrates success in predicting responses to targeted therapies in cultured and patient-tumor-derived primary cells, as well as in two clinical trials for multiple myeloma and breast cancer...
April 18, 2024: Nature Cancer
#2
JOURNAL ARTICLE
Marina Monini, Giovanni Ianiro, Luca De Sabato, Marta Bivona, Fabio Ostanello, Ilaria Di Bartolo
Hepatitis E virus (HEV) is the causative agent of foodborne infections occurring in high income countries mainly by consumption of undercooked and raw pork products. The virus is zoonotic with pigs and wild boars as the main reservoirs. Several studies proved the presence of HEV-RNA in pork liver sausages, pâté and other pork by-products. However, the detection of HEV nucleic acids does not necessary correspond to infectious virus and information on the persistence of the virus in the food is still limited...
August 2024: Food Microbiology
#3
JOURNAL ARTICLE
Trever G Bivona
Beyond lipid membrane compartments, cells including cancer cells utilize various membraneless compartments, often termed biomolecular condensates, to regulate or organize key cellular processes underlying physiologic or pathologic phenotypes. In this commentary, the emergence of biomolecular condensation in cancer biology is highlighted, with a focus on key unanswered questions and with implications for improving the understanding of cancer pathogenesis and developing innovative cancer management strategies...
April 4, 2024: Cancer Discovery
#4
JOURNAL ARTICLE
Mariana G Selener, Jimena Borgo, Maria Belen Sarratea, Maria Alicia Delfino, Laura C Laurella, Natacha Cerny, Jessica Gomez, Mauro Coll, Emilio L Malchiodi, Augusto E Bivona, Patricia Barrera, Flavia C Redko, César A N Catalán, Andrés Sánchez Alberti, Valeria P Sülsen
Chagas disease, caused by the protozoan Trypanosoma cruzi , affects 6-7 million people worldwide. The dichloromethane extract obtained from the aerial parts of Gymnocoronis spilanthoides var subcordata showed trypanocidal activity in vitro. The fractionation of the dewaxed organic extract via column chromatography led to the isolation of three diterpenoids: ent -9α,11α-dihydroxy-15-oxo-kaur-16-en-19-oic acid or adenostemmoic acid B, (16 R )- ent -11α-hydroxy-15-oxokauran-19-oic acid and ent -11α-hydroxy-15-oxo-kaur-16-en-19-oic acid...
March 18, 2024: Pharmaceutics
#5
JOURNAL ARTICLE
Dalida Bivona, Carmelo Bonomo, Lorenzo Colombini, Paolo G Bonacci, Grete F Privitera, Giuseppe Caruso, Filippo Caraci, Francesco Santoro, Nicolò Musso, Dafne Bongiorno, Francesco Iannelli, Stefania Stefani
Intracellular survival and immune evasion are typical features of staphylococcal infections. USA300 is a major clone of methicillin-resistant S. aureus (MRSA), a community- and hospital-acquired pathogen capable of disseminating throughout the body and evading the immune system. Carnosine is an endogenous dipeptide characterized by antioxidant and anti-inflammatory properties acting on the peripheral (macrophages) and tissue-resident (microglia) immune system. In this work, RAW 264.7 murine macrophages were infected with the USA300 ATCC BAA-1556 S...
March 16, 2024: Antibiotics
#6
Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, Mustafa Tekin, Stephan Züchner
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability...
March 19, 2024: Annals of Clinical and Translational Neurology
#7
REVIEW
Giuseppe Sangiorgio, Emanuele Nicitra, Dalida Bivona, Carmelo Bonomo, Paolo Bonacci, Maria Santagati, Nicolò Musso, Dafne Bongiorno, Stefania Stefani
Extracellular vesicles (EVs) are lipid bilayers derived from cell membranes, released by both eukaryotic cells and bacteria into the extracellular environment. During production, EVs carry proteins, nucleic acids, and various compounds, which are then released. While Gram-positive bacteria were traditionally thought incapable of producing EVs due to their thick peptidoglycan cell walls, recent studies on membrane vesicles (MVs) in Gram-positive bacteria have revealed their significant role in bacterial physiology and disease progression...
March 1, 2024: International Journal of Molecular Sciences
#8
JOURNAL ARTICLE
Matilda Iemmolo, Giulia Bivona, Tommaso Piccoli, Aldo Nicosia, Gabriella Schiera, Carlo Maria Di Liegro, Fabrizio Di Pietra, Giulio Ghersi
Alzheimer's disease (AD) is the most common form of dementia, characterized by the accumulation of β-amyloid plaques, tau tangles, neuroinflammation, and synaptic/neuronal loss, the latter being the strongest correlating factor with memory and cognitive impairment. Through an in vitro study on a neurons-astrocytes-microglia (NAM) co-culture system, we analyzed the effects of cerebrospinal fluid (CSF) samples from AD and non-AD patients (other neurodegenerative pathologies). Treatment with CSF from AD patients showed a loss of neurofilaments and spheroids, suggesting the presence of elements including CX3CL1 (soluble form), destabilizing the neurofilaments, cellular adhesion processes, and intercellular contacts...
February 21, 2024: International Journal of Molecular Sciences
#9
JOURNAL ARTICLE
Pradip Kumar Tiwari, M Solo, Zareen A Lynrah, Abhijeet Bhatia, N Brian Shunyu, Suvamoy Chakraborty
Subglottic stenosis is narrowing of the area in between the vocal cords and the cricoid cartilage. It can cause respiratory problems which can be mild to severe. Study the management of paediatric airway in post-intubation subglottic stenosis associated with Japanese encephalitis. Case Setting and Design: Retrospective study of 18 patients presenting with encephalitis out of which 6 cases were of post-intubation subglottic stenosis associated with Japanese encephalitis between the study period of one year (September 2017-September 2018) in the, Department of Otolaryngology and Head and Neck Surgery, North Eastern Indira Gandhi Regional Institute Of Health And Medical Sciences, Shillong, Meghalaya, India...
February 2024: Indian Journal of Otolaryngology and Head and Neck Surgery
#10
JOURNAL ARTICLE
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bönnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients' primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines...
February 27, 2024: Nature Communications
#11
JOURNAL ARTICLE
Jimena Borgo, Mariel S Wagner, Laura C Laurella, Orlando G Elso, Mariana G Selener, María Clavin, Hernán Bach, César A N Catalán, Augusto E Bivona, Claudia S Sepúlveda, Valeria P Sülsen
Asteraceae (Compositae), commonly known as the sunflower family, is one of the largest plant families in the world and includes several species with pharmacological properties. In the search for new antiviral candidates, an in vitro screening against dengue virus (DENV) was performed on a series of dichloromethane and methanolic extracts prepared from six Asteraceae species, including Acmella bellidioides , Campuloclinium macrocephalum , Grindelia pulchella , Grindelia chiloensis , Helenium radiatum , and Viguiera tuberosa , along with pure phytochemicals isolated from Asteraceae: mikanolide ( 1 ), eupatoriopicrin ( 2 ), eupahakonenin B ( 3 ), minimolide ( 4 ), estafietin ( 5 ), 2-oxo-8-deoxyligustrin ( 6 ), santhemoidin C ( 7 ), euparin ( 8 ), jaceidin ( 9 ), nepetin ( 10 ), jaceosidin ( 11 ), eryodictiol ( 12 ), eupatorin ( 13 ), and 5-demethylsinensetin ( 14 )...
February 9, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
#12
JOURNAL ARTICLE
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, Alejo A Morales, Stephan Zuchner, Guney Bademci, Mustafa Tekin
Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both patients were heterozygous for a stop-gain variant c.1084C>T (p.Arg362*). Complementary RNA-seq on fibroblasts revealed significantly reduced levels of mutant EFEMP1 transcript...
February 13, 2024: American Journal of Medical Genetics. Part A
#13
JOURNAL ARTICLE
Ryan A Smith, Tyler J Pease, Anthony K Chiu, Brian M Shear, Mario N Sahlani, Amit S Ratanpal, Ivan B Ye, Alexandra E Thomson, Louis J Bivona, Julio J Jauregui, Kenneth M Crandall, Charles A Sansur, Daniel L Cavanaugh, Eugene Y Koh, Steven C Ludwig
STUDY DESIGN: Prospective, single-center study. OBJECTIVE: To evaluate the clinical relevance of the validated intraoperative bleeding severity scale (VIBe) in thoracolumbar spine surgery. METHODS: Adult patients aged 18 through 88 undergoing elective decompression, instrumentation, and fusion of the thoracolumbar spine were prospectively enrolled after informed consent was provided and written consent was obtained. Validated intraoperative bleeding severity scores were recorded intraoperatively...
January 24, 2024: Global Spine Journal
#14
Joshua Hardham, John J Pisquiy, Louis Bivona
BACKGROUND: Wound dehiscence is a known postoperative complication, but in cervical spine surgery it is rare and there is a lack of documented literature. This case report discusses novel complications of wound dehiscence in three patients who were treated with spinous process ostectomies after posterior cervical surgeries. CASE DESCRIPTION: In total three cases are reported in these reports. Case one documents the management of a patient with full-thickness cervical wound dehiscence following a cervical paraspinal infection corrected with posterior spinal fixation and fusion...
December 25, 2023: Journal of Spine Surgery (Hong Kong)
#15
REVIEW
Giulia Bivona, Matilda Iemmolo, Giulio Ghersi
Despite Alzheimer's Disease (AD) being known from the times of Alois Alzheimer, who lived more than one century ago, many aspects of the disease are still obscure, including the pathogenesis, the clinical spectrum definition, and the therapeutic approach. Well-established biomarkers for AD come from the histopathological hallmarks of the disease, which are Aβ and phosphorylated Tau protein aggregates. Consistently, cerebrospinal fluid (CSF) Amyloid β (Aβ) and phosphorylated Tau level measurements are currently used to detect AD presence...
November 29, 2023: International Journal of Molecular Sciences
#16
JOURNAL ARTICLE
Jovanka Gencel-Augusto, Trever G Bivona
In this issue, Lv et al.1 explore EGFR-driven epitranscriptomic reprogramming in glioblastoma, revealing the pivotal role of the EGFR-ALKBH5-GCLM axis in ferroptosis protection. Their findings offer mechanistic insight and therapeutic strategies involving novel combination targets to enhance tumor responses.
December 7, 2023: Molecular Cell
#17
JOURNAL ARTICLE
Deborah R Caswell, Philippe Gui, Manasi K Mayekar, Emily K Law, Oriol Pich, Chris Bailey, Jesse Boumelha, D Lucas Kerr, Collin M Blakely, Tadashi Manabe, Carlos Martinez-Ruiz, Bjorn Bakker, Juan De Dios Palomino Villcas, Natalie I Vokes, Michelle Dietzen, Mihaela Angelova, Beatrice Gini, Whitney Tamaki, Paul Allegakoen, Wei Wu, Timothy J Humpton, William Hill, Mona Tomaschko, Wei-Ting Lu, Franziska Haderk, Maise Al Bakir, Ai Nagano, Francisco Gimeno-Valiente, Sophie de Carné Trécesson, Roberto Vendramin, Vittorio Barbè, Miriam Mugabo, Clare E Weeden, Andrew Rowan, Caroline E McCoach, Bruna Almeida, Mary Green, Carlos Gomez, Shigeki Nanjo, Dora Barbosa, Chris Moore, Joanna Przewrocka, James R M Black, Eva Grönroos, Alejandro Suarez-Bonnet, Simon L Priestnall, Caroline Zverev, Scott Lighterness, James Cormack, Victor Olivas, Lauren Cech, Trisha Andrews, Brandon Rule, Yuwei Jiao, Xinzhu Zhang, Paul Ashford, Cameron Durfee, Subramanian Venkatesan, Nuri Alpay Temiz, Lisa Tan, Lindsay K Larson, Prokopios P Argyris, William L Brown, Elizabeth A Yu, Julia K Rotow, Udayan Guha, Nitin Roper, Johnny Yu, Rachel I Vogel, Nicholas J Thomas, Antonio Marra, Pier Selenica, Helena Yu, Samuel F Bakhoum, Su Kit Chew, Jorge S Reis-Filho, Mariam Jamal-Hanjani, Karen H Vousden, Nicholas McGranahan, Eliezer M Van Allen, Nnennaya Kanu, Reuben S Harris, Julian Downward, Trever G Bivona, Charles Swanton
In this study, the impact of the apolipoprotein B mRNA-editing catalytic subunit-like (APOBEC) enzyme APOBEC3B (A3B) on epidermal growth factor receptor (EGFR)-driven lung cancer was assessed. A3B expression in EGFR mutant (EGFRmut) non-small-cell lung cancer (NSCLC) mouse models constrained tumorigenesis, while A3B expression in tumors treated with EGFR-targeted cancer therapy was associated with treatment resistance. Analyses of human NSCLC models treated with EGFR-targeted therapy showed upregulation of A3B and revealed therapy-induced activation of nuclear factor kappa B (NF-κB) as an inducer of A3B expression...
December 4, 2023: Nature Genetics
#18
JOURNAL ARTICLE
Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J Cohen, Russell J Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K Dube, Ninad S Chaudhary, Orlando M Gutiérrez, Suzanne E Judd, Mary Cushman, Leslie A Lange, Ethan M Lange, Daniel L Bivona, Miguel Verbitsky, Cheryl A Winkler, Jeffrey B Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes E Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D D'Agati, Riccardo Magistroni, Eimear E Kenny, Ruth J F Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S Paul, Slavé Petrovski, David B Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G Gharavi, Krzysztof Kiryluk, Matthew G Sampson, Martin R Pollak, Simone Sanna-Cherchi
African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this disparity. While 13% of African Americans carry the high-risk recessive genotypes, only a fraction of these individuals develops FSGS or kidney failure, indicating the involvement of additional disease modifiers. Here, we show that the presence of the APOL1 p.N264K missense variant, when co-inherited with the G2 APOL1 risk allele, substantially reduces the penetrance of the G1G2 and G2G2 high-risk genotypes by rendering these genotypes low-risk...
November 30, 2023: Nature Communications
#19
JOURNAL ARTICLE
Anthony K Chiu, Sabrina P Bustos, Ovais Hasan, Leah E Henry, Brittany A Oster, Amit S Ratanpal, Richard Padovano, Parker L Brush, Tyler J Pease, Ryan A Smith, Julio J Jauregui, Louis J Bivona, Daniel L Cavanaugh, Eugene Y Koh, Alexander R Vaccaro, Steven C Ludwig
BACKGROUND: Traumatic cervical spinal cord injury (tCSCI) is often a debilitating injury, making early prognosis important for medical and surgical planning. Currently, the best early predictors of prognosis are the physical examination, imaging studies, and patient demographics. Despite these factors, patient outcomes continue to vary significantly. The purpose of this study was to evaluate the prognostic value of somatosensory evoked potentials (SSEPs) with functional outcomes in tCSCI patients...
November 24, 2023: World Neurosurgery
#20
David V Allegakoen, Kristen Kwong, Jacqueline Morales, Trever G Bivona, Amit J Sabnis
Molecular chaperones including the heat-shock protein 70-kilodalton (HSP70) family and the J-domain containing protein (JDP) co-chaperones maintain homeostatic balance in eukaryotic cells through regulation of the proteome. The expansive JDP family helps direct specific HSP70 functions, and yet loss of single JDP-encoding genes is widely tolerated by mammalian cells, suggesting a high degree of redundancy. By contrast, essential JDPs might carry out HSP70-independent functions or fill cell-context dependent, highly specialized roles within the proteostasis network...
October 26, 2023: bioRxiv
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