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  1. Article ; Online: What is affective technotouch (and why does it matter)?

    DeFalco, Amelia / Dolezal, Luna

    The senses and society

    2023  Volume 18, Issue 2, Page(s) 85–91

    Abstract: This Editors' Introduction defines the theme of 'affective technotouch' as referring to multidimensional embodied encounters with technologies which can trigger emotional and affective responses, while also being concerned with social, political, ... ...

    Abstract This Editors' Introduction defines the theme of 'affective technotouch' as referring to multidimensional embodied encounters with technologies which can trigger emotional and affective responses, while also being concerned with social, political, cultural and ethical dimensions of technological touch. With reference to neuroscience and developmental studies, we outline how touch is foundational in human experience. We then discuss contemporary technologies, such as haptic gadgets and care/companion robots, which illustrate the complexities of affective technotouch. Finally, we offer critical outlines of the six contributing articles to this Special Issue on Affective Technotouch.
    Language English
    Publishing date 2023-02-14
    Publishing country England
    Document type Journal Article
    ISSN 1745-8935
    ISSN (online) 1745-8935
    DOI 10.1080/17458927.2023.2167420
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Delayed onset Bickerstaff brainstem encephalitis overlapping Miller-Fisher Syndrome during SARS-CoV-2 infection.

    Acampora, R / de Falco, A / Lanfranchi, F / Montella, S / Scala, R / Lieto, M / Durante, L / Bruno, R

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 12, Page(s) 4179–4182

    Abstract: Bickerstaff brainstem encephalitis (BBE) is a neuroimmunologic disease characterized by the acute onset of external ophthalmoplegia, ataxia, and consciousness disturbance, mostly subsequent to an infection. BBE is considered to be a variant of Miller- ... ...

    Abstract Bickerstaff brainstem encephalitis (BBE) is a neuroimmunologic disease characterized by the acute onset of external ophthalmoplegia, ataxia, and consciousness disturbance, mostly subsequent to an infection. BBE is considered to be a variant of Miller-Fisher syndrome (MFS), which also exhibits external ophthalmoplegia and ataxia but not presenting consciousness alterations. Therefore, these two medical conditions are included in the clinical spectrum of the "Fisher-Bickerstaff syndrome" ( Shahrizaila and Yuki in J Neurol Neurosurg Psychiatry 84(5):576-583) [1]. With regard to the etiopathogenesis, increasing evidence worldwide suggests that SARS-CoV-2 infection-enhanced immune response is involved in a wide range of neurological complications such as Guillain-Barré syndrome (GBS), MFS, acute necrotizing encephalitis (ANE), myelitis, acute disseminated encephalomyelitis (ADEM), and, although very rarely, BBE either (Hosseini et al. in Rev Neurosci 32:671-691) [2]. We report a case of a patient affected by delayed onset BBE overlapping MFS during a mild SARS-CoV-2 infection. To the best of our knowledge, similar cases have never been reported.
    MeSH term(s) Humans ; Miller Fisher Syndrome/complications ; Miller Fisher Syndrome/diagnosis ; COVID-19/complications ; COVID-19/pathology ; SARS-CoV-2 ; Guillain-Barre Syndrome/complications ; Guillain-Barre Syndrome/diagnosis ; Encephalitis/complications ; Encephalitis/diagnosis ; Ophthalmoplegia ; Ataxia/complications ; Eye Diseases/complications ; Brain Stem/diagnostic imaging ; Brain Stem/pathology
    Language English
    Publishing date 2023-10-27
    Publishing country Italy
    Document type Case Reports ; Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-07142-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

    De Falco, Alessandro / Iolascon, Achille / Ascione, Flora / Piscopo, Carmelo

    Genes

    2023  Volume 14, Issue 5

    Abstract: The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a ... ...

    Abstract The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as
    MeSH term(s) Humans ; Male ; Child ; Developmental Disabilities/genetics ; Chromosome Deletion ; Intellectual Disability/genetics ; Neurodevelopmental Disorders/genetics ; Genetic Association Studies
    Language English
    Publishing date 2023-05-21
    Publishing country Switzerland
    Document type Case Reports ; Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14051116
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients

    De Falco, Alessandro / Iolascon, Achille / Ascione, Flora / Piscopo, Carmelo

    Genes (Basel). 2023 May 21, v. 14, no. 5

    2023  

    Abstract: The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a ... ...

    Abstract The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as RORB and TRPM6. Here, we report a case of a 7-year-old boy affected by 9q21.13 microdeletion syndrome. He presents with global developmental delay, intellectual disability, autistic behaviour, seizures and facial dysmorphism. Moreover, he has severe myopia, which was previously reported in only another patient with 9q21.13 deletion, and brain anomalies which were never described before in 9q21.13 microdeletion syndrome. We also collect 17 patients from a literature search and 10 cases from DECIPHER database with a total number of 28 patients (including our case). In order to better investigate the four candidate genes RORB, TRPM6, PCSK5, and PRUNE2 for neurological phenotype, we make, for the first time, a classification in four groups of all the collected 28 patients. This classification is based both on the genomic position of the deletions included in the 9q21.3 locus deleted in our patient and on the different involvement of the four-candidate gene. In this way, we compare the clinical problems, the radiological findings, and the dysmorphic features of each group and of all the 28 patients in our article. Moreover, we perform the genotype–phenotype correlation of the 28 patients to better define the syndromic spectrum of 9q21.13 microdeletion syndrome. Finally, we propose a baseline ophthalmological and neurological monitoring of this syndrome.
    Keywords boys ; brain ; comparative genomic hybridization ; databases ; genes ; genomics ; genotype-phenotype correlation ; loci ; myopia ; patients ; phenotype
    Language English
    Dates of publication 2023-0521
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14051116
    Database NAL-Catalogue (AGRICOLA)

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  5. Article ; Online: First Case of a Dominant De Novo

    Minale, Elia Marco Paolo / De Falco, Alessandro / Agolini, Emanuele / Novelli, Antonio / Russo, Roberta / Andolfo, Immacolata / Iolascon, Achille / Piscopo, Carmelo

    Genes

    2024  Volume 15, Issue 1

    Abstract: Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in ... ...

    Abstract Cranio-lenticulo-sutural dysplasia (CLSD, OMIM #607812) is a rare genetic condition characterized by late-closing fontanels, skeletal defects, dysmorphisms, and congenital cataracts that are caused by bi-allelic or monoallelic variants in the
    MeSH term(s) Male ; Humans ; Child ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism ; Intellectual Disability/genetics ; Intellectual Disability/metabolism ; Mutation, Missense ; Endoplasmic Reticulum/metabolism ; Golgi Apparatus/metabolism
    Chemical Substances Vesicular Transport Proteins ; SEC23A protein, human
    Language English
    Publishing date 2024-01-20
    Publishing country Switzerland
    Document type Review ; Case Reports ; Journal Article
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15010130
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Cardiotoxicity and ROS Protection Assessment of three Structure-Related N-Acylhydrazones with Potential for the Treatment of Neurodegenerative Diseases.

    Helena, Eduarda Santa / De Falco, Anna / Cukierman, Daphne S / Gioda, Adriana / Gioda, Carolina Rosa / Rey, Nicolás A

    Chemistry & biodiversity

    2024  Volume 21, Issue 3, Page(s) e202400356

    Abstract: The senescence process is associated with accumulated oxidative damage and increased metal concentration in the heart and brain. Besides, abnormal metal-protein interactions have also been linked with the development of several conditions, including ... ...

    Abstract The senescence process is associated with accumulated oxidative damage and increased metal concentration in the heart and brain. Besides, abnormal metal-protein interactions have also been linked with the development of several conditions, including Alzheimer's and Parkinson's diseases. Over the years we have described a series of structure-related compounds with different activities towards models of such diseases. In this work, we evaluated the potential of three N-acylhydrazones (INHHQ: 8-hydroxyquinoline-2-carboxaldehyde isonicotinoyl hydrazone, HPCIH: pyridine-2-carboxaldehyde isonicotinoyl hydrazone and X1INH: 1-methyl-1H-imidazole-2-carboxaldehyde isonicotinoyl hydrazone) to prevent oxidative stress in cellular models, with the dual intent of being active on this pathway and also to confirm their lack of cardiotoxicity as an important step in the drug development process, especially considering that the target population often presents cardiovascular comorbidity. The 8-hydroxyquinoline-contaning compound, INHHQ, exhibits a significant cardioprotective effect against hydrogen peroxide and a robust antioxidant activity. However, this compound is the most toxic to the studied cell models and seems to induce oxidative damage on its own. Interestingly, although not possessing a phenol group in its structure, the new-generation 1-methylimidazole derivative X1INH showed a cardioprotective tendency towards H9c2 cells, demonstrating the importance of attaining a compromise between activity and intrinsic cytotoxicity when developing a drug candidate.
    MeSH term(s) Humans ; Neurodegenerative Diseases/drug therapy ; Reactive Oxygen Species/metabolism ; Cardiotoxicity ; Antioxidants/pharmacology ; Oxidative Stress ; Metals ; Proteins/metabolism ; Hydrazones/pharmacology ; Hydrazones/chemistry ; Oxyquinoline/pharmacology ; Pyridines
    Chemical Substances Reactive Oxygen Species ; Antioxidants ; Metals ; pyridine-2-carboxaldehyde isonicotinoyl hydrazone ; Proteins ; Hydrazones ; Oxyquinoline (5UTX5635HP) ; Pyridines
    Language English
    Publishing date 2024-02-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2139001-0
    ISSN 1612-1880 ; 1612-1872
    ISSN (online) 1612-1880
    ISSN 1612-1872
    DOI 10.1002/cbdv.202400356
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Sifting Through the Noise: A Computational Pipeline for Accurate Prioritization of Protein-Protein Binding Candidates in High-Throughput Protein Libraries.

    Mondal, Arup / Singh, Bhumika / Felkner, Roland H / De Falco, Anna / Swapna, Gvt / Montelione, Gaetano T / Roth, Monica J / Perez, Alberto

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Identifying the interactome for a protein of interest is challenging due to the large number of possible binders. High-throughput experimental approaches narrow down possible binding partners, but often include false positives. Furthermore, they provide ... ...

    Abstract Identifying the interactome for a protein of interest is challenging due to the large number of possible binders. High-throughput experimental approaches narrow down possible binding partners, but often include false positives. Furthermore, they provide no information about what the binding region is (e.g. the binding epitope). We introduce a novel computational pipeline based on an AlphaFold2 (AF) Competition Assay (AF-CBA) to identify proteins that bind a target of interest from a pull-down experiment, along with the binding epitope. Our focus is on proteins that bind the Extraterminal (ET) domain of Bromo and Extraterminal domain (BET) proteins, but we also introduce nine additional systems to show transferability to other peptide-protein systems. We describe a series of limitations to the methodology based on intrinsic deficiencies to AF and AF-CBA, to help users identify scenarios where the approach will be most useful. Given the speed and accuracy of the methodology, we expect it to be generally applicable to facilitate target selection for experimental verification starting from high-throughput protein libraries.
    Language English
    Publishing date 2024-01-23
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.20.576374
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: A Computational Pipeline for Accurate Prioritization of Protein-Protein Binding Candidates in High-Throughput Protein Libraries.

    Mondal, Arup / Singh, Bhumika / Felkner, Roland / De Falco, Anna / Swapna, Gvt / Montelione, Gaetano / Roth, Monica / Perez, Alberto

    Angewandte Chemie (International ed. in English)

    2024  , Page(s) e202405767

    Abstract: IIdentifying the interactome for a protein of interest is challenging due to the large number of possible binders. High-throughput experimental approaches narrow down possible binding partners but often include false positives. Furthermore, they provide ... ...

    Abstract IIdentifying the interactome for a protein of interest is challenging due to the large number of possible binders. High-throughput experimental approaches narrow down possible binding partners but often include false positives. Furthermore, they provide no information about what the binding region is (e.g., the binding epitope). We introduce a novel computational pipeline based on an AlphaFold2 (AF) Competition Binding Assay (AF-CBA) to identify proteins that bind a target of interest from a pull-down experiment and the binding epitope. Our focus is on proteins that bind the Extraterminal (ET) domain of Bromo and Extraterminal domain (BET) proteins, but we also introduce nine additional systems to show transferability to other peptide-protein systems. We describe a series of limitations to the methodology based on intrinsic deficiencies of AF and AF-CBA to help users identify scenarios where the approach will be most useful. Given the method's speed and accuracy, we anticipate its broad applicability to identify binding epitope regions among potential partners, setting the stage for experimental verification.
    Language English
    Publishing date 2024-04-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2011836-3
    ISSN 1521-3773 ; 1433-7851
    ISSN (online) 1521-3773
    ISSN 1433-7851
    DOI 10.1002/anie.202405767
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A variational algorithm to detect the clonal copy number substructure of tumors from scRNA-seq data.

    De Falco, Antonio / Caruso, Francesca / Su, Xiao-Dong / Iavarone, Antonio / Ceccarelli, Michele

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 1074

    Abstract: Single-cell RNA sequencing is the reference technology to characterize the composition of the tumor microenvironment and to study tumor heterogeneity at high resolution. Here we report Single CEll Variational ANeuploidy analysis (SCEVAN), a fast ... ...

    Abstract Single-cell RNA sequencing is the reference technology to characterize the composition of the tumor microenvironment and to study tumor heterogeneity at high resolution. Here we report Single CEll Variational ANeuploidy analysis (SCEVAN), a fast variational algorithm for the deconvolution of the clonal substructure of tumors from single-cell RNA-seq data. It uses a multichannel segmentation algorithm exploiting the assumption that all the cells in a given copy number clone share the same breakpoints. Thus, the smoothed expression profile of every individual cell constitutes part of the evidence of the copy number profile in each subclone. SCEVAN can automatically and accurately discriminate between malignant and non-malignant cells, resulting in a practical framework to analyze tumors and their microenvironment. We apply SCEVAN to datasets encompassing 106 samples and 93,322 cells from different tumor types and technologies. We demonstrate its application to characterize the intratumor heterogeneity and geographic evolution of malignant brain tumors.
    MeSH term(s) Humans ; DNA Copy Number Variations/genetics ; Single-Cell Gene Expression Analysis ; Algorithms ; Brain Neoplasms ; Single-Cell Analysis/methods ; Sequence Analysis, RNA/methods ; Tumor Microenvironment/genetics
    Language English
    Publishing date 2023-02-25
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-36790-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Increasing ecological validity in neuropsychopharmacology research on the relationship between alcohol use and uncertain stressors.

    Bradford, Daniel E / Dev, Amelia S / DeFalco, Angelica / Whittaker, Freya / Timpano, Kiara R

    Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology

    2023  Volume 49, Issue 2, Page(s) 353–354

    MeSH term(s) Alcohol Drinking ; Stress, Psychological/drug therapy
    Language English
    Publishing date 2023-07-24
    Publishing country England
    Document type Letter
    ZDB-ID 639471-1
    ISSN 1740-634X ; 0893-133X
    ISSN (online) 1740-634X
    ISSN 0893-133X
    DOI 10.1038/s41386-023-01672-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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