Article
Cell Biology
Valentina Cocce, Silvia La Monica, Mara Bonelli, Giulio Alessandri, Roberta Alfieri, Costanza Annamaria Lagrasta, Denise Madeddu, Caterina Frati, Lisa Flammini, Daniela Lisini, Angela Marcianti, Eugenio Parati, Francesca Paino, Aldo Gianni, Giampietro Farronato, Angela Falco, Lorenzo Spaggiari, Francesco Petrella, Augusto Pessina
Summary: The study demonstrates that mesenchymal stromal cells (MSCs) can significantly inhibit the growth of malignant pleural mesothelioma (MPM) through various mechanisms, both in vitro and in vivo. This suggests that MSCs could offer a potential new therapeutic approach for MPM patients, especially considering the limited treatment options available for this malignancy.
Article
Biology
Daojiang Yu, Shuaijun Zhang, Wei Mo, Zhiqiang Jiang, Min Wang, Lu An, Youyou Wang, Yulong Liu, Sheng Jiang, Ailing Wu, Jianping Cao, Shuyu Zhang
Summary: Severe radiation-induced skin injury is a potential complication of tumor radiotherapy and nuclear accidents. Cell therapy using stromal vascular fraction (SVF) derived from adipose tissue has shown promising results in promoting wound healing. Proteomic profiling revealed upregulated and downregulated proteins in SVF-co-cultured human skin fibroblast WS1 cells, indicating the potential of SVF in modulating the microenvironment for skin regeneration. Transplantation of SVF was found to significantly improve wound healing and relieve pain in patients with radiation-induced skin injury, suggesting SVF as an effective treatment option.
RADIATION RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Li-Na Zhang, Di-Di Zhang, Lei Yang, Yu-Xuan Gu, Qiu-Ping Zuo, Hao-Yi Wang, Jia Xu, Dian-Xin Liu
Summary: Invasion and metastasis are key characteristics of malignant tumors, with epithelial-mesenchymal transition (EMT) recognized as the initial step. Cell fusion, particularly involving mesenchymal stromal/stem cells (MSCs), plays a critical role in cancer development and progression, potentially influencing tumor growth and metastasis.
Article
Biotechnology & Applied Microbiology
Ann De Becker, Robbe Heestermans, Wouter De Brouwer, Kara Bockstaele, Ken Maes, Ivan Van Riet
Summary: The choice of growth supplement, such as fetal calf serum (FCS) or platelet lysate (PL), has a significant impact on the gene expression profile of mesenchymal stromal cells (MSCs). MSCs expanded in PL-containing medium show higher proliferation rates and express more anti-apoptotic genes compared to MSCs expanded in FCS-containing medium. Additionally, PL-MSCs exhibit less upregulation of senescence-related genes. Therefore, the use of PL over FCS is favored for the expansion of MSCs.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Cell Biology
Beverly Brooks, Dominique Ebedes, Ahsan Usmani, Joaquin Vega Gonzales-Portillo, Daniel Gonzales-Portillo, Cesario Borlongan
Summary: Ischemic brain injury is a major cause of death worldwide with limited treatment options. Stem cell-based regenerative therapies, specifically mesenchymal stromal cells, show promise in stroke treatment, but further research is needed to fully understand their cell function.
Review
Immunology
Takeshi Nitta
Summary: The microenvironment of the thymus consists of thymic epithelial cells (TECs) and mesenchymal stromal cells, which play crucial roles in T cell development and selection. While TECs are well-studied, the immunological significance of mesenchymal stromal cells, particularly fibroblasts, has been less explored. Recent advancements in technology have allowed for the identification and characterization of these cells, revealing their unique functions in thymic organogenesis and T cell development.
INFLAMMATION AND REGENERATION
(2022)
Article
Biochemistry & Molecular Biology
Svetlana V. Kostyuk, Elena V. Proskurnina, Marina S. Konkova, Margarita S. Abramova, Andrey A. Kalianov, Elizaveta S. Ershova, Vera L. Izhevskaya, Sergey I. Kutsev, Natalia N. Veiko
Summary: This study found that low-dose ionizing radiation and oxidized cell-free DNA can both upregulate mitochondrial gene expression in mesenchymal stem cells, which in turn affects the function of mitochondrial respiratory chain complexes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Guadalupe M. Vedoya, Tamara E. Galarza, Nora A. Mohamad, Graciela P. Cricco, Gabriela A. Martin
Summary: In this study, the researchers found that the secretome of non-tumorigenic mammary epithelial cells can affect the phenotype and migratory ability of irradiated breast tumor cells, with the involvement of the TGF-beta and Src activation/phosphorylation signaling pathway. This finding suggests that non-tumorigenic epithelial mammary cells included in the irradiation field may influence the response to irradiation of post-surgery residual cancer cells, thus modifying the efficacy of radiotherapy.
Review
Cell Biology
Meryem Ouzin, Gesine Kogler
Summary: Mesenchymal stromal cells are widely used in regenerative medicine and translational research, but their heterogeneity and the lack of understanding of their molecular mechanisms pose challenges for clinical applications. This review focuses on the heterogeneity aspects related to tissue source and developmental origin, emphasizing the importance of generating homogeneous products for clinical use.
Article
Cell & Tissue Engineering
Lan Luo, Chen Yan, Naoki Fuchi, Yukinobu Kodama, Xu Zhang, Goto Shinji, Kiyonori Miura, Hitoshi Sasaki, Tao-Sheng Li
Summary: The study explored the hypothesis that altered secretion of extracellular vesicles (EVs) from mesenchymal stem cells (MSCs) triggered radiation-induced heart disease. Results indicated that EVs from irradiated MSCs exhibited changed miRNA profiles and harmful effects on heart cells.
STEM CELL RESEARCH & THERAPY
(2021)
Review
Immunology
Ayman F. Refaie, Batoul L. Elbassiouny, Malgorzata Kloc, Omaima M. Sabek, Sherry M. Khater, Amani M. Ismail, Rania H. Mohamed, Mohamed A. Ghoneim
Summary: MSC-based therapy for T1DM shows promise, but there are conflicting views on their immunological profile. Research focuses on understanding the mechanisms of their immunomodulatory functions and exploring ways to enhance their effects.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Cell Biology
Luise Mueller, Antje Tunger, Manja Wobus, Malte von Bonin, Russell Towers, Martin Bornhaeuser, Francesco Dazzi, Rebekka Wehner, Marc Schmitz
Summary: Mesenchymal stromal cells (MSCs) have the ability to regulate and inhibit the function of immune cells, playing a crucial role in the pathogenesis of inflammatory disorders and showing promise in the treatment of conditions such as acute graft-versus-host disease, graft rejection, and autoimmune diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Immunology
Likun Zheng, Lei Zhang, Yixuan Guo, Xintong Xu, Zhaoyun Liu, Zhenyu Yan, Rong Fu
Summary: Myelodysplastic syndrome (MDS) is a common hematological malignant disease characterized by abnormal proliferation of malignant hematopoietic stem cells in the bone marrow. The dysfunction of mesenchymal stromal cells (MSCs) in the bone marrow microenvironment plays a critical role in MDS progression through modulation of immune cell function, enabling evasion of immune surveillance by MDS-associated malignant cells.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Oncology
Lucas Eduardo Botelho de Souza, Fernanda Ursoli Ferreira, Carolina Hassibe Thome, Heloisa Brand, Maristela Delgado Orellana, Vitor Marcel Faca, Aparecida Maria Fontes, Dimas Tadeu Covas
Summary: Melanoma cells have the capability to activate an EMT-like program and acquire metastatic traits through distinct pathways induced by MSCs' secretome, both in mouse and human cells.
Article
Cell & Tissue Engineering
Grace C. Blitzer, Tiffany Glazer, Adam Burr, Sara Gustafson, Olga Ganz, Ross Meyers, Kimberly A. McDowell, Kwangok P. Nickel, Ryan J. Mattison, Marissa Weiss, Richard Chappell, Nicole M. Rogus-Pulia, Jacques Galipeau, Randall J. Kimple
Summary: This pilot study investigated the safety and efficacy of interferon gamma-stimulated autologous bone marrow-derived MSCs for the treatment of radiation-induced xerostomia. The results show that the treatment is safe and well tolerated, with a trend towards improvement in salivary production and quality of life.
Article
Cardiac & Cardiovascular Systems
Carolina Putotto, Elio Caruso, Bruno Marino, Maria Cristina Digilio, Antonio Novelli, Salvatore Agati
Summary: This report describes a rare case of anatomically corrected malposition of the great arteries, and a mutation in the Nodal gene related to human left-right patterning defects was found.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Genetics & Heredity
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Levy, Cecilia Mancini, Benjamin Cogne, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A. Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne-Claude Tabet, Michael C. Kruer, Manuela Priolo, Bruno Dallapiccola, Marco Tartaglia
Summary: CNOT2 haploinsufficiency is the underlying cause of a rare neurodevelopmental disorder called Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). This disorder shares clinical similarities with chromosome 12q15 deletion syndrome, suggesting that CNOT2 haploinsufficiency plays a significant role in the latter. CNOT2 is a member of the CCR4-NOT complex, which regulates various cellular processes. The clinical profile of IDNADFS remains incompletely understood due to the limited number of reported cases.
Article
Genetics & Heredity
Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Bluemlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R. P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal
Summary: Variants in the EIF4A2 gene cause a genetic neurodevelopmental syndrome characterized by global developmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies. These variants disrupt protein structure and result in both loss of function and gain of function mechanisms.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Genetics & Heredity
Viviana Lupo, Maria Grazia Di Gregorio, Gerarda Mastrogiorgio, Monia Magliozzi, Maria Eleonora Scapillati, Vittorio Maglione, Ester Romanelli, Caterina Alegiani, Cristina Haass, Antonio Novelli
Summary: Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare autosomal dominant condition caused by pathogenetic variants of the ACTA2 gene. It is characterized by impaired muscle contraction and an increased susceptibility to various cardiovascular and developmental abnormalities. This case report highlights the importance of early diagnosis and multidisciplinary care in managing MSMDS, in order to reduce the risk of complications.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Johannes Luppe, Heinrich Sticht, Francois Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denomme-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer
Summary: The study identified eight individuals with ultra rare variants in STX1A who presented with a spectrum of intellectual disability, autism, and epilepsy. The phenotypic course varied depending on the type of variant, with missense variants mainly causing epilepsy and single amino acid deletions and the splice variant causing intellectual disability and autistic behavior. In silico modeling showed different impaired protein-protein interactions for missense variants and single amino acid deletions. These findings suggest two different pathogenic mechanisms underlying STX1A-related neurodevelopmental disorders.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca
Summary: Deleterious variants of the DYNC2H1 gene are associated with a wide range of skeletal ciliopathies. Targeted parallel sequencing was used to analyze 25 families with unresolved molecular diagnoses. Deleterious DYNC2H1 variants were identified in six sporadic patients and two monozygotic twins. The clinical phenotypes displayed a variety of skeletal ciliopathy disorders, including EvC, mixed ATD/EvC, and short rib-polydactyly/EvC.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Genetics & Heredity
Cristiana Agazzi, Monia Magliozzi, Onofrio Iacoviello, Stefano Palladino, Maurizio Delvecchio, Maristella Masciopinto, Alessio Galati, Antonio Novelli, Francesco Andrea Causio, Giuseppe Zampino, Claudia Ruggiero, Rita Fischetto
Summary: This article discusses the association between the USP9X gene on the X chromosome and neurodevelopmental and intellectual disabilities. In females, USP9X variants are mainly linked to loss of function and lead to neurodevelopmental delay, intellectual disability, and congenital anomalies. In males, USP9X missense variants often result in partial loss of function and are associated with intellectual disability, behavioral disorders, and developmental delays.
MOLECULAR SYNDROMOLOGY
(2023)
Article
Obstetrics & Gynecology
Paolo Fontana, Emanuele Agolini, Dario Cocciadiferro, Laura Letizia Mazzarelli, Aniello Di Meglio, Antonio Novelli, Gioacchino Scarano, Cinzia Lombardi, Maria Ciavarella, Fortunato Lonardo
Summary: This article describes a couple who had two consecutive therapeutic abortions due to a diagnosis of short-rib thoracic dysplasia mutations. The first diagnosis was made at 21 weeks of pregnancy, and the second diagnosis was made at 12 weeks through early and accurate ultrasound examination. DYNC2H1 mutations were confirmed in both cases. The importance of ultrasound evaluation in the first trimester for detecting early signs of skeletal dysplasias is emphasized in this report. Early prenatal diagnosis of short-rib skeletal dysplasia, as well as other severe skeletal dysplasias, is critical in providing couples with a chance to make a weighted, informed, and less traumatic decision about the continuation of the pregnancy.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2023)
Article
Genetics & Heredity
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C. Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Summary: This study reports 11 recurring variants in Joubert syndrome patients, including three founder variants in specific populations. The variants were significantly enriched in the European Joubert syndrome cohort and showed different enrichments in American patients. Four new European founder haplotypes were also identified. Additionally, two variants were suggested to be hypomorphic variants.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medicine, Research & Experimental
Antonella Conforti, Elisa Sanchez, Erika Salvatori, Lucia Lione, Mirco Compagnone, Eleonora Pinto, Fabio Palombo, Emanuela D'Acunto, Alessia Muzi, Giuseppe Roscilli, Yuhua Sun, Brian Viscount, James Hayward, Clay Shorrock, Diego G. Diel, Joseph A. Impellizeri, Luigi Aurisicchio
Summary: SARS-CoV-2 can infect a wide range of animal species, including cats, and it is important to find mechanisms to prevent transmission and reduce the risk of infection. A genetic vaccine targeting COVID-19 has been shown to be safe and effective in cats, generating specific antibodies and T cells that can block the spread of the virus.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2023)
Article
Dermatology
Michele Callea, Emanuele Bellacchio, Francisco Cammarata Scalisi, Jinia El Feghaly, Rabab K. El-Ghandour, Andrea Avendano, Yasemine Yavuz, Andrea Diociaiuti, Maria C. Digilio, Mariateresa Di Stazio, Antonio Novelli, Teresa Oranges, Cesare Filippeschi, Elisa Pisaneschi, Houweyda Jilani, Francesca Gigola, Colin E. Willoughby, Antonino Morabito
Summary: This study demonstrates the clinical utility of a targeted resequencing panel in enhancing the molecular and clinical diagnosis of ectodermal dysplasias (EDs). The identification of disease-causing mutations is crucial for genetic counseling and developing appropriate treatment plans.
ITALIAN JOURNAL OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Genetics & Heredity
Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A. Levy, Evelina Miele, Claudia Nardini, Camilla Cappelletti, Raissa Relator, Angela Pitisci, Rita De Vito, Simone Pizzi, Jennifer Kerkhof, Haley McConkey, Francesca Nazio, Sarina G. Kant, Maddalena Di Donato, Emanuele Agolini, Marta Matraxia, Barbara Pasini, Alessandra Pelle, Tiziana Galluccio, Antonio Novelli, Tahsin Stefan Barakat, Marco Andreani, Francesca Rossi, Cristina Mecucci, Anna Savoia, Bekim Sadikovic, Franco Locatelli, Marco Tartaglia
Summary: Fanconi anemia (FA) is a genetically heterogeneous cancer-predisposing disorder. In this study, the researchers identified a DNA methylation signature that can distinguish FA patients from healthy individuals and patients with other genetic disorders. This signature can be used for FA diagnosis and training machine learning models for faster molecular diagnosis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Oncology
Claudia Piombino, Marco Oltrecolli, Elena Tonni, Marta Pirola, Rossana Matranga, Cinza Baldessari, Stefania Pipitone, Massimo Dominici, Roberto Sabbatini, Maria Giuseppa Vitale
Summary: De novo metastatic hormone-sensitive prostate cancer usually has a poor prognosis, but recent advancements in new hormonal agents and combination therapy have slightly improved outcomes. Ongoing clinical trials are exploring new therapeutic approaches and personalized treatment options based on genomic features and biomarker-guided treatment.
Correction
Endocrinology & Metabolism
Novella Rapini, Patrizia I. Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Matteoli M. Cristina, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Rosario Ruta, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti
ACTA DIABETOLOGICA
(2023)
Article
Endocrinology & Metabolism
Novella Rapini, Patrizia Patera, Riccardo Schiaffini, Paolo Ciampalini, Valentina Pampanini, Matteoli M. Cristina, Annalisa Deodati, Giorgia Bracaglia, Ottavia Porzio, Rosario Ruta, Antonio Novelli, Mafalda Mucciolo, Stefano Cianfarani, Fabrizio Barbetti
Summary: In the pediatric diabetes clinic, establishing a monogenic diabetes clinic has been found to improve diagnostic pipelines and provide tailored care for patients with monogenic diabetes, which accounts for 6% of cases.
ACTA DIABETOLOGICA
(2023)