Article
Biochemistry & Molecular Biology
Cristina Tous, Carmen Munoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel Maria Fernandez, Juan Antinolo, Elena Navarro-Gonzalez, Guillermo Antinolo, Salud Borrego
Summary: Thyroid carcinoma (TC) can be classified into medullary (MTC) and non-medullary (NMTC). This study aimed to identify susceptibility genes for familial NMTC and non-RET MTC using whole exome sequencing. Rare candidate segregating variants were found in 12 families, with enriched biological processes related to cell proliferation, differentiation, survival, and adhesion. These findings provide insights into molecular mechanisms underlying familial forms of MTC and NMTC, which may contribute to early detection, tailored therapies, and patient management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Julia Horjus, Tineke van Mourik-Banda, Marco A. P. Heerings, Marina Hakobjan, Ward De Witte, Dorothea J. Heersema, Anne J. Jansen, Eva M. M. Strijbis, Brigit A. de Jong, Astrid E. J. Slettenaar, Esther M. P. E. Zeinstra, Erwin L. J. Hoogervorst, Barbara Franke, Wiebe Kruijer, Peter J. Jongen, Leo J. Visser, Geert Poelmans
Summary: This study identified 12 rare genetic variants associated with multiple sclerosis through whole exome sequencing and co-segregation analysis, highlighting the involvement of various biological processes related to (de-/re-)myelination and auto-immunity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Patricia Rodriguez-Solana, Natalia Arruti, Maria Nieves-Moreno, Rocio Mena, Carmen Rodriguez-Jimenez, Marta Guerrero-Carretero, Juan Carlos Acal, Joana Blasco, Jesus M. Peralta, Angela Del Pozo, Victoria E. F. Montano, Lucia De Dios-Blazquez, Celia Fernandez-Alcalde, Carmen Gonzalez-Atienza, Eloisa Sanchez-Cazorla, Maria de Los Angeles Gomez-Cano, Luna Delgado-Mora, Susana Noval, Elena Vallespin
Summary: This study conducted whole exome sequencing on 20 Spanish families with non-syndromic pediatric cataracts and identified potential gene candidates. Genetic diagnosis was achieved in 10% of the families and genes that could cause pediatric cataracts were found in 35% of the cohort. Furthermore, potential candidate genes and causal genes were proposed for further investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Ylenia D'Agostino, Domenico Palumbo, Maria Rosaria Rusciano, Oriana Strianese, Sonia Amabile, Domenico Di Rosa, Elena De Angelis, Valeria Visco, Fabio Russo, Elena Alexandrova, Annamaria Salvati, Giorgio Giurato, Giovanni Nassa, Roberta Tarallo, Gennaro Galasso, Michele Ciccarelli, Alessandro Weisz, Francesca Rizzo
Summary: Dilated cardiomyopathy (DCM) is a complex disease with genetic and environmental factors contributing to its development. Early identification of causative gene mutations is important for genetic diagnosis, pre-symptomatic interventions, and prognosis prediction. Whole-exome sequencing (WES) has emerged as a promising method to identify causal variants in known genes and novel disease-related candidates in DCM.
Article
Biochemistry & Molecular Biology
Eloisa Sanchez-Cazorla, Carmen Gonzalez-Atienza, Ana Lopez-Vazquez, Natalia Arruti, Maria Nieves-Moreno, Susana Noval, Rocio Mena, Carmen Rodriguez-Jimenez, Patricia Rodriguez-Solana, Eva Gonzalez-Iglesias, Marta Guerrero-Carretero, Oriana D'Anna Mardero, Javier Coca-Robinot, Juan Carlos Acal, Joana Blasco, Carlos Castaneda, Jesus Fraile Maya, Angela Del Pozo, Maria V. Gomez-Pozo, Victoria E. F. Montano, Lucia De Dios-Blazquez, Carlos Rodriguez-Antolin, Maria de Los angeles Gomez-Cano, Luna Delgado-Mora, Elena Vallespin
Summary: This article focuses on the genetic analysis of early-onset high myopia and proposes several candidate genes that may be associated with this disease. It suggests that early-onset high myopia may be a polygenic inheritance.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Kiran Narta, Manoj Ramesh Teltumbade, Mansi Vishal, Samreen Sadaf, Mohd. Faruq, Hodan Jama, Naushin Waseem, Aparna Rao, Abhijit Sen, Kunal Ray, Arijit Mukhopadhyay
Summary: This study identifies novel genes and gene networks associated with familial forms of primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) through whole-exome sequencing and analysis. Rare mutations with high penetrance were found in glaucoma cases, and the expression profiles of candidate genes were analyzed. The study provides insights into the genetic mechanisms of glaucoma.
Article
Geriatrics & Gerontology
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Beisha Tang, Jifeng Guo
Summary: This study found that the NOTCH3 gene may not play an important role in early-onset or familial Parkinson's disease in the Chinese population. Although some common variants showed a nominal protective effect against Parkinson's disease, these results did not reach significance after correction. Gene-based analyses of rare variants also did not show a significant association between NOTCH3 and Parkinson's disease.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Genetics & Heredity
Laura Marie-Hardy, Thomas Courtin, Hugues Pascal-Moussellard, Serge Zakine, Alexis Brice
Summary: This study analyzed whole-exome sequencing data from 113 individuals in 19 multi-generational families with adolescent idiopathic scoliosis (AIS) and found genetic involvement, particularly mutations in the BICD2 gene, indicating the role of the muscular system in AIS etiology. The analysis also revealed significant enrichment in myosin-related and neuronal activity-related categories, reinforcing the suspected involvement of the neuronal and muscular systems in AIS and suggesting a possible role of DNA-binding activities in AIS physiopathology.
Article
Oncology
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Sara Resciniti, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Francesca Fava, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Sara Mannucci, Anna Maria Pinto, Aurora Curro, Virginia Mancini, Francesca Mari, Alessandra Renieri, Francesca Ariani
Summary: This study identified pathogenic and potentially pathogenic genes in HBOC patients through whole exome sequencing and MLPA testing, expanding the spectrum of causative variants. This helps to improve personalized risk assessment and clinical surveillance in HBOC families.
FRONTIERS IN ONCOLOGY
(2021)
Article
Genetics & Heredity
Seyed Mohammad Kazem Aghamir, Hassan Roudgari, Hassan Heidari, Mohammad Salimi Asl, Yousef Jafari Abarghan, Venous Soleimani, Rahil Mashhadi, Fatemeh Khatami
Summary: This study evaluated exon loci variants in kidney transplant recipients using high-resolution Next Generation Sequencing. The results identified nine pathogenic variants in rejecting patients and 86 SNPs in successful transplant patients. These variants play important roles in short-term graft survival.
Article
Cardiac & Cardiovascular Systems
John Collyer, Fuyi Xu, Undral Munkhsaikhan, Neely F. Alberson, Buyan-Ochir Orgil, Wenying Zhang, Richard J. Czosek, Lu Lu, John L. Jefferies, Jeffrey A. Towbin, Enkhsaikhan Purevjav
Summary: This study identified a variety of variants contributing to left ventricular noncompaction syndrome through family research, with some being novel. In some families, the variants carried by patients lead to severe LVNC, while in others, the variants only cause mild trabeculation of the myocardium.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Article
Oncology
Cristina Andres-Zayas, Julia Suarez-Gonzalez, Maria Chicano-Lavilla, Mariana Bastos Oreiro, Gabriela Rodriguez-Macias, Patricia Font Lopez, Santiago Osorio Prendes, Gillen Oarbeascoa Royuela, Patricia Garcia Ramirez, Rocio Nieves Salgado, Ignacio Gomez-Centurion, Diego Carbonell Munoz, Paula Muniz, Mi Kwon, Jose Luis Diez-Martin, Ismael Buno, Carolina Martinez-Laperche
Summary: The study aimed to analyze the genomic characterization of sixteen patients with a strong family or personal onco-hematological history through whole-exome sequencing. Pathogenic or likely pathogenic germline variants were detected in four out of the six families studied, while three P/LP germline variants in genes potentially involved in cancer development were found in the remaining four individuals. Novel candidate genes (NFATC2 and TC2N) potentially related to germline syndromes were identified using next-generation sequencing strategies.
Article
Neurosciences
Kristyna Kolarikova, Radek Vodicka, Radek Vrtel, Julia Stellmachova, Martin Prochazka, Katerina Mensikova, Petr Kanovsky
Summary: Parkinsonism is a common neurodegenerative disease, and this study focused on the genetic predisposition and variants in a Moravian pedigree. Whole exome sequencing was performed on five family trios, and the presence of genetic variants related to Parkinsonism was evaluated. Although no founder mutations were found, shared variants were identified among different trios. The study suggests the accumulation of multiple risk genetic factors for Parkinsonism in the isolated Moravian population.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Neurosciences
Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Luca Giovanni Di Giovannantonio, Sara Pietracupa, Daniela Ruggiero, Simona Scala, Stefano Gambardella, Licia Iacoviello, Fernando Gianfrancesco, Dario Acampora, Maurizio D'Esposito, Antonio Simeone, Marina Ciullo, Teresa Esposito
Summary: This study identified 28 disrupting variants in 26 candidate genes for PD, 16 of which have not been associated with PD before. It was demonstrated that the co-inheritance of multiple rare variants in the 26 genes may predict PD occurrence in about 20% of patients, with high specificity. The data highlighted the genetic landmarks of late onset PD and the importance of rare variants in the genetics of sporadic PD.
MOLECULAR NEURODEGENERATION
(2021)
Article
Clinical Neurology
Alessandro Mechelli, Andrea Quattrone, Rita Nistico, Marianna Crasa, Domenico La Torre, Basilio Vescio, Aldo Quattrone
Summary: This study provides the first evidence of brainstem hyperexcitability in iNPH patients. R2BRrc showed high accuracy in differentiating iNPH patients from control subjects and was significantly correlated with MRI measurements.
JOURNAL OF NEUROLOGY
(2022)
Correction
Gastroenterology & Hepatology
Heather J. Cordell, James J. Fryett, Kazuko Ueno, Rebecca Darlay, Yoshihiro Aiba, Yuki Hitomi, Minae Kawashima, Nao Nishida, Seik-Soon Khor, Olivier Gervais, Yosuke Kawai, Masao Nagasaki, Katsushi Tokunaga, Ruqi Tang, Yongyong Shi, Zhiqiang Li, Brian D. Juran, Elizabeth J. Atkinson, Alessio Gerussi, Marco Carbone, Rosanna Asselta, Angela Cheung, Mariza de Andrade, Aris Baras, Julie Horowitz, Manuel A. R. Ferreira, Dylan Sun, David E. Jones, Steven Flack, Ann Spicer, Victoria L. Mulcahy, Jinyoung Byun, Younghun Han, Richard N. Sandford, Konstantinos N. Lazaridis, Christopher I. Amos, Gideon M. Hirsch, Michael F. Seldin, Pietro Invernizzi, Katherine A. Siminovitch, Xiong Ma, Minoru Nakamura, George F. Mells
JOURNAL OF HEPATOLOGY
(2022)
Biographical-Item
Hematology
Rosanna Asselta, Domenico Girelli, Flora Peyvandi
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Clinical Neurology
Maria Giovanna Bianco, Andrea Quattrone, Alessia Sarica, Basilio Vescio, Jolanda Buonocore, Maria Grazia Vaccaro, Federica Aracri, Camilla Calomino, Vera Gramigna, Aldo Quattrone
Summary: This study successfully differentiated between iNPH and PSP patients using a machine learning approach based on cortical thickness and volumetric data. iNPH patients showed more severe and widespread cortical involvement compared to PSP patients. These findings can guide clinicians in differential diagnosis and patient selection for shunt procedures.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: A significant proportion of Charcot-Marie-Tooth disease (CMT) patients experience general distress and depression, which are correlated with disease severity and medication usage.
JOURNAL OF NEUROLOGY
(2023)
Article
Health Care Sciences & Services
Alessio Gerussi, Damiano Verda, Claudio Cappadona, Laura Cristoferi, Davide Paolo Bernasconi, Sandro Bottaro, Marco Carbone, Marco Muselli, Pietro Invernizzi, Rosanna Asselta
Summary: This study evaluated the feasibility and accuracy of using a machine learning model for disease risk prediction in Primary Biliary Cholangitis (PBC). The results showed that the model had high accuracy and specificity, and can be used for disease prediction in individuals at risk.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemical Research Methods
Chenxi Zhou, Shane A. McCarthy, Richard Durbin
Summary: YaHS is a user-friendly command-line tool that constructs chromosome-scale scaffolds from Hi-C data. It requires minimal input from users (an assembly file and an alignment file), can be run with a single-line command, and provides assembly results in multiple formats, enabling rapid and accurate construction of high-quality genome assemblies.
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: This study investigated fatigue in CMT patients and found that 36% of the patients experienced abnormal fatigue. Abnormal fatigue was correlated with disease severity, anxiety, depression, sleepiness, and obesity. Therefore, the management of CMT patients should involve treating fatigue and addressing other factors such as anxiety, depression, sleepiness, and obesity.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Immunology
Alessio Gerussi, Blagoje Soskic, Rosanna Asselta, Pietro Invernizzi, Merrill E. Gershwin
Summary: Autoimmune diseases are common and complex, with a polygenic nature. Recent advances in genomics have improved the understanding of the effects of genetic variants on target tissues and immune cells. However, there are still gaps in research and future directions to explore.
JOURNAL OF AUTOIMMUNITY
(2022)
Article
Clinical Neurology
Alicia Garrido, Graham Fairfoul, Eduardo Tolosa, Maria J. Marti, Mario Ezquerra, Alison J. E. Green
Summary: The real-time quaking induced conversion (RT-QuIC) assay has been found to be a sensitive biomarker for synucleinopathy in patients with LRRK2-associated Parkinson's disease (LRRK2-PD). The study showed that the RT-QuIC assay had 100% accuracy and sensitivity in detecting misfolded alpha-synuclein in the substantia nigra and cerebrospinal fluid samples of LRRK2-PD patients, and it could effectively differentiate LRRK2-PD cases with Lewy-type pathology from those without it.
MOVEMENT DISORDERS
(2023)
Article
Geriatrics & Gerontology
Monica Gagliardi, Radha Procopio, Mariagrazia Talarico, Andrea Quattrone, Gennarina Arabia, Maurizio Morelli, Marco D'Amelio, Donatella Malanga, Giuseppe Bonapace, Aldo Quattrone, Grazia Annesi
Summary: Recently, a novel pathogenic variant in Annexin A1 protein has been identified in an Iranian family with autosomal recessive Parkinsonism. This study aimed to identify rare ANXA1 variants in early-onset PD patients from South Italy. However, sequencing analysis revealed only 2 synonymous variants, suggesting that the recently published ANXA1 mutation is not a common cause of EOPD in Southern Italy.
NEUROBIOLOGY OF AGING
(2023)
Article
Virology
Claudia Veneziano, Nadia Marascio, Carmela De Marco, Barbara Quaresima, Flavia Biamonte, Enrico Maria Trecarichi, Gianluca Santamaria, Angela Quirino, Daniele Torella, Aldo Quattrone, Giovanni Matera, Carlo Torti, Caterina De Filippo, Francesco Saverio Costanzo, Giuseppe Viglietto
Summary: We investigated the evolution of SARS-CoV-2 spread in Calabria, Southern Italy, in 2022. Analysis of Omicron variants in Calabria revealed the prevalence of 10 different sub-lineages. In addition, Calabria Omicron presented non-canonical mutations in the S protein and non-structural proteins.
Article
Oncology
Cesare Saitta, Ilaria De Simone, Vittorio Fasulo, Marinella Corbetta, Stefano Duga, Chiara Chiereghin, Federico Simone Colombo, Alessio Benetti, Roberto Contieri, Pier Paolo Avolio, Alessandro Uleri, Alberto Saita, Giorgio Ferruccio Guazzoni, Rodolfo Hurle, Piergiuseppe Colombo, Nicolo Maria Buffi, Paolo Casale, Giovanni Lughezzani, Rosanna Asselta, Giulia Solda, Massimo Lazzeri
Summary: Liquid biopsy (LB) is increasingly being explored as a non-invasive method for detecting prostate cancer (PCa). This study aimed to determine the rate of patients who were able to collect seminal fluid and evaluate the efficiency of the protocol in collecting prostate-derived cells. The results showed that only one third of locally advanced PCa patients were able to donate seminal fluid, with younger age and lower prostate volume being favorable predictors for semen collection.
Review
Clinical Neurology
Andrea Quattrone, Anna Latorre, Francesca Magrinelli, Eoin Mulroy, Roopa Rajan, Ray Jen Neo, Aldo Quattrone, John C. Rothwell, Kailash P. Bhatia
Summary: In this review, we discuss the clinical and pathophysiological aspects of various motor phenomena in patients with movement disorders. These phenomena, including mirror movements and dystonic overflow, share some similarities but also differ in terms of the body part involved, the type of movement, and the underlying neurological condition. We aim to improve the clinical recognition and standardize the terminology of these fascinating clinical signs.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Camilla Calomino, Andrea Quattrone, Alessia Sarica, Maria Giovanna Bianco, Federica Aracri, Marida De Maria, Jolanda Buonocore, Maria Grazia Vaccaro, Basilio Vescio, Aldo Quattrone
Summary: Objective: The study aimed to identify brain structures associated with postural instability (PI) in Progressive Supranuclear Palsy (PSP). Methods: PSP patients and control subjects were evaluated using voxel-based morphometry (VBM). Results: Widespread grey matter atrophy was observed in PSP patients compared to controls. The right inferior frontal gyrus (IFG) was significantly associated with the PI score in PSP patients. Conclusions: The IFG volume may play a role in the pathophysiological mechanisms underlying PI. This finding has important implications for developing optimal treatment protocols for postural disorders in parkinsonism.
PARKINSONISM & RELATED DISORDERS
(2023)