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Showing 1–50 of 51 results

Advanced filters: Author: Giovanni Scala Clear advanced filters

Enhancing the resolution of microseismicity through dense array monitoring in complex extensional settings

Francesco Scotto di Uccio
Titouan Muzellec
Gaetano Festa
ResearchOpen Access17 Jan 2026
Scientific Reports

P: 1-10
In vivo genetic manipulation of inner ear connexin expression by bovine adeno-associated viral vectors

Giulia Crispino
Fabian Galindo Ramirez
Fabio Mammano
ResearchOpen Access04 Aug 2017
Scientific Reports

Volume: 7, P: 1-13
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

Andrea Gazzin
Marta Calvo
Alessandro Mussa
Research08 Jan 2026
European Journal of Human Genetics

P: 1-7
Classification and regression model to manage the hospitalization for laparoscopic cholecystectomy

Arianna Scala
Teresa Angela Trunfio
Giovanni Improta
ResearchOpen Access07 Sept 2023
Scientific Reports

Volume: 13, P: 1-10
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
The structure of the ASAP core complex reveals the existence of a Pinin-containing PSAP complex

The ASAP complex is emerging as an assembly of proteins at the interface between transcription, pre-mRNA splicing and mRNA quality control. Structural analysis of the ASAP core complex reveals macromolecular interactions between the subunits and their assembly into ASAP. In addition, ASAP subunits SAP18 and RNPS1 are shown to bind Pinin, forming a novel complex called PSAP.

Andrea Giovanni Murachelli
Judith Ebert
Elena Conti
Research04 Mar 2012
Nature Structural & Molecular Biology

Volume: 19, P: 378-386
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis.

Andrea Accogli
Saurabh Shakya
Christopher J. Westlake
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-20
Genetic mechanisms of critical illness in COVID-19

A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

Erola Pairo-Castineira
Sara Clohisey
J. Kenneth Baillie
Research11 Dec 2020
Nature

Volume: 591, P: 92-98
Guadecitabine plus ipilimumab in unresectable melanoma: five-year follow-up and integrated multi-omic analysis in the phase 1b NIBIT-M4 trial

The NIBIT-M4 trial was designed to assess the safety, biological and clinical activity of anti-CTLA4 ipilimumab with the DNA hypomethylating agent guadecitabine in advanced melanoma patients. Here the authors report the five-year follow-up results of the trial and an integrated multi-omics analysis of pre- and on-treatment tumor biopsies.

Teresa Maria Rosaria Noviello
Anna Maria Di Giacomo
Michele Ceccarelli
ResearchOpen Access22 Sept 2023
Nature Communications

Volume: 14, P: 1-18
Predictive analysis of lower limb fractures in the orthopedic complex operative unit using artificial intelligence: the case study of AOU Ruggi

Arianna Scala
Anna Borrelli
Giovanni Improta
ResearchOpen Access22 Dec 2022
Scientific Reports

Volume: 12, P: 1-11
Th1/Th2 polarization of peripheral immune response in atherothrombotic and cardioembolic stroke: a prospective study

Simone Bellavia
Irene Scala
Giovanni Frisullo
ResearchOpen Access30 Sept 2022
Scientific Reports

Volume: 12, P: 1-6
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Marcello Scala
Annalaura Torella
Valeria Capra
Research01 Apr 2019
European Journal of Human Genetics

Volume: 27, P: 1254-1259
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis

Giuseppe Limongelli
Fabio De Iaco
Roberta Veneziano
ResearchOpen Access11 Nov 2025
Scientific Reports

Volume: 15, P: 1-13
Immature forms of low density granulocytes are increased in acute myeloid leukemia and myelodysplastic syndromes

Angela Bertolini
Francesca Picone
Valentina Giudice
ResearchOpen Access13 Mar 2025
Scientific Reports

Volume: 15, P: 1-14
A new non-classical fold of varroa odorant-binding proteins reveals a wide open internal cavity

Beatrice Amigues
Jiao Zhu
Paolo Pelosi
ResearchOpen Access23 Jun 2021
Scientific Reports

Volume: 11, P: 1-13
A deep catalogue of protein-coding variation in 983,578 individuals

A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

Kathie Y. Sun
Xiaodong Bai
Suganthi Balasubramanian
ResearchOpen Access20 May 2024
Nature

Volume: 631, P: 583-592
A first update on mapping the human genetic architecture of COVID-19

Gita A. Pathak
Juha Karjalainen
J. Kenneth Baillie
ResearchOpen Access03 Aug 2022
Nature

Volume: 608, P: E1-E10
Identification of a distinct population of CD133⁺CXCR4⁺ cancer stem cells in ovarian cancer

Michele Cioffi
Crescenzo D’Alterio
Stefania Scala
ResearchOpen Access28 May 2015
Scientific Reports

Volume: 5, P: 1-11
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca²⁺ transport and AMPAR currents.”

Vincenzo Salpietro
Christine L. Dixon
Henry Houlden
ResearchOpen Access12 Jul 2019
Nature Communications

Volume: 10, P: 1-16
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Sergio Daga
Chiara Fallerini
Elisa Frullanti
ResearchOpen Access17 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 745-759
Anderson localization of a non-interacting Bose–Einstein condensate

Giacomo Roati
Chiara D’Errico
Massimo Inguscio
Research12 Jun 2008
Nature

Volume: 453, P: 895-898
CXCR4 expression affects overall survival of HCC patients whereas CXCR7 expression does not

Maria Neve Polimeno
Caterina Ierano
Stefania Scala
ResearchOpen Access03 Nov 2014
Cellular & Molecular Immunology

Volume: 12, P: 474-482
Neurobiological correlates of personality dimensions in borderline personality disorder using graph analysis of functional connectivity

Francesca D’Adda
Giovanni Sighinolfi
Marco Menchetti
ResearchOpen Access12 Apr 2025
Scientific Reports

Volume: 15, P: 1-11
Self-testing tilted strategies for maximal loophole-free nonlocality

Nicolas Gigena
Ekta Panwar
Anubhav Chaturvedi
ResearchOpen Access19 May 2025
npj Quantum Information

Volume: 11, P: 1-9
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti
Rossella Tita
Anna Maria Pinto
ResearchOpen Access17 Jul 2020
European Journal of Human Genetics

Volume: 28, P: 1602-1614
Multidisciplinary studies on a sick-leader syndrome-associated mass stranding of sperm whales (Physeter macrocephalus) along the Adriatic coast of Italy

Sandro Mazzariol
Cinzia Centelleghe
Giovanni Di Guardo
ResearchOpen Access01 Aug 2018
Scientific Reports

Volume: 8, P: 1-18
Employing a spatio-temporal contingency table for the analysis of cork oak cover change in the Sa Serra region of Sardinia

Sandro Dettori
Maria Rosaria Filigheddu
Luigi Sedda
ResearchOpen Access16 Nov 2018
Scientific Reports

Volume: 8, P: 1-14
Concurrent structural and biophysical traits link with immunoglobulin light chains amyloid propensity

Luca Oberti
Paola Rognoni
Stefano Ricagno
ResearchOpen Access01 Dec 2017
Scientific Reports

Volume: 7, P: 1-11
How to manage neonatal tuberculosis

A Di Comite
S Esposito
Elisabetta Scala
Reviews13 Aug 2015
Journal of Perinatology

Volume: 36, P: 80-85
Author Correction: Targeted inhibition of ubiquitin signaling reverses metabolic reprogramming and suppresses glioblastoma growth

Rossella Delle Donne
Rosa Iannucci
Antonio Feliciello
Amendments and CorrectionsOpen Access29 Oct 2024
Communications Biology

Volume: 7, P: 1-2
An explainable model of host genetic interactions linked to COVID-19 severity

A multifaceted computational strategy identifies 16 genetic variants contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing dataset of a cohort of Italian patients.

Anthony Onoja
Nicola Picchiotti
Francesco Raimondi
ResearchOpen Access26 Oct 2022
Communications Biology

Volume: 5, P: 1-14
High-coverage methylation data of a gene model before and after DNA damage and homologous repair

Antonio Pezone
Giusi Russo
Enrico V. Avvedimento
ResearchOpen Access11 Apr 2017
Scientific Data

Volume: 4, P: 1-10
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Francesca Minnai
Filippo Biscarini
Francesca Colombo
ResearchOpen Access06 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Simona Amenta
Giuseppe Marangi
Marcella Zollino
Research16 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 648-653
Targeted inhibition of ubiquitin signaling reverses metabolic reprogramming and suppresses glioblastoma growth

The E3 ubiquitin ligase praja2 is expressed in glioblastoma (GBM), targets the kinase suppressor of Ras 2 for degradation and attenuates oxidative metabolism. Nanoparticle-mediated delivery of praja2 siRNA to GBM-bearing mice reduces tumour size.

Rossella Delle Donne
Rosa Iannucci
Antonio Feliciello
ResearchOpen Access02 Aug 2022
Communications Biology

Volume: 5, P: 1-14
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German Demidov
Steven Laurie
Stephan Ossowski
ResearchOpen Access31 May 2024
European Journal of Human Genetics

Volume: 32, P: 998-1004
Human mobility in response to COVID-19 in France, Italy and UK

Alessandro Galeazzi
Matteo Cinelli
Walter Quattrociocchi
ResearchOpen Access23 Jun 2021
Scientific Reports

Volume: 11, P: 1-10
Impairment of T cell development and acute inflammatory response in HIV-1 Tat transgenic mice

Giuseppe Fiume
Annarita Scialdone
Ileana Quinto
ResearchOpen Access07 Sept 2015
Scientific Reports

Volume: 5, P: 1-14
Lactoferrin-derived Peptides Active towards Influenza: Identification of Three Potent Tetrapeptide Inhibitors

Maria Carmina Scala
Marina Sala
Pietro Campiglia
ResearchOpen Access06 Sept 2017
Scientific Reports

Volume: 7, P: 1-11
Genetic trajectory and immune microenvironment of lung-specific oligometastatic colorectal cancer

Alessandro Ottaiano
Luisa Circelli
Guglielmo Nasti
ResearchOpen Access24 Apr 2020
Cell Death & Disease

Volume: 11, P: 1-11
DNA sequence context as a marker of CpG methylation instability in normal and cancer tissues

Giovanni Scala
Antonio Federico
Dario Greco
ResearchOpen Access03 Feb 2020
Scientific Reports

Volume: 10, P: 1-11
Metabolomics signatures of acutely ill and short-term weight recovered women with anorexia nervosa

Palmiero Monteleone
Alessio Maria Monteleone
Mario Maj
Research07 Nov 2019
Molecular Psychiatry

Volume: 26, P: 3980-3991
Sex-related alterations of gut microbiota composition in the BTBR mouse model of autism spectrum disorder

Lorena Coretti
Claudia Cristiano
Francesca Lembo
ResearchOpen Access28 Mar 2017
Scientific Reports

Volume: 7, P: 1-10
Autologous transplantation of intestine-isolated glia cells improves neuropathology and restores cognitive deficits in β amyloid-induced neurodegeneration

Giuseppe Esposito
Giovanni Sarnelli
Luca Steardo
ResearchOpen Access04 Mar 2016
Scientific Reports

Volume: 6, P: 1-11
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German Demidov
Steven Laurie
Stephan Ossowski
Amendments and CorrectionsOpen Access07 Apr 2025
European Journal of Human Genetics

P: 1-3
Expression and functional role of CRIPTO-1 in cutaneous melanoma

A De Luca
L Lamura
N Normanno
ResearchOpen Access23 Aug 2011
British Journal of Cancer

Volume: 105, P: 1030-1038
Enhancing traditional museum fruition: current state and emerging tendencies

Rocco Furferi
Luca Di Angelo
Marco Biffi
ReviewsOpen Access18 Jan 2024
Heritage Science

Volume: 12, P: 1-38
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

Stefania Mantovani
Sergio Daga
Alessandra Renieri
ResearchOpen Access24 Dec 2021
Genes & Immunity

Volume: 23, P: 51-56

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