IRIS
SCUDIERI, PAOLO
 Distribuzione geografica
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Continente #
EU - Europa 4.232
AS - Asia 19
NA - Nord America 5
Totale 4.256
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Nazione #
IT - Italia 4.232
CN - Cina 17
US - Stati Uniti d'America 5
SG - Singapore 2
Totale 4.256
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Città #
Genoa 2.000
Genova 1.395
Vado Ligure 422
Rapallo 397
Bordighera 12
Beijing 11
Milan 6
Ashburn 4
Singapore 2
Boydton 1
Totale 4.250
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Nome #
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia 174
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release 169
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy 164
Intermolecular Interactions in the TMEM16A Dimer Controlling Channel Activity 162
Upregulation of TMEM16A protein in bronchial epithelial cells by bacterial pyocyanin 155
TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels 150
A minimal isoform of the TMEM16A protein associated with chloride channel activity 140
Non-canonical translation start sites in the TMEM16A chloride channel 137
The danger signal extracellular ATP is involved in the immunomediated damage of α-sarcoglycan deficient muscular dystrophy 126
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms 117
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 112
High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel 96
Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells 95
Discovery of a picomolar potency pharmacological corrector of the mutant CFTR chloride channel 95
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 94
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 92
ANO4 (Anoctamin 4) is a novel marker of zona glomerulosa that regulates stimulated aldosterone secretion 91
SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease 87
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 84
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 81
The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels 81
Comprehensive analysis of combinatorial pharmacological treatments to correct nonsense mutations in the cftr gene 78
mGlu5 receptor negative allosteric modulation reduces the aberrant cellular reactivity and neurotoxicity of reactive human astrocytes differentiated from fibroblast of SOD1 and C9orf72 ALS patients 78
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 77
The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism 76
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 72
An overview on chemical structures as ΔF508-CFTR correctors 72
Intermolecular interactions in the TMEM16A dimer controlling channel activity 71
Pharmacological rescue of mutant CFTR protein improves the viscoelastic properties of CF mucus 70
P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy 66
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 64
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality 63
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 62
TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels 61
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity 59
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation 59
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 57
Vesicular glutamate release from feeder-free hiPSC-derived neurons 57
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants 55
Increased expression of ATP12A proton pump in cystic fibrosis airways 52
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 52
De novo variants in DENND5B cause a neurodevelopmental disorder 51
Normal calcium-activated anion secretion in a mouse selectively lacking TMEM16A in intestinal epithelium 49
Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells 47
Mapping the human genetic architecture of COVID-19 46
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations 45
ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases 41
Changes of the microglia phenotype in the SOD1G93A mouse model of amyotrophic lateral sclerosis after mGluR5 genetic down-regulation 38
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance 38
Airway surface hyperviscosity and defective mucociliary transport by IL-17/TNF-α are corrected by β-adrenergic stimulus 35
null 31
Role of ANO4 in regulation of aldosterone secretion in the zona glomerulosa of the human adrenal gland 30
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 28
TMEM16A alternative splicing coordination in breast cancer 23
Take a big sip and shrink it with ASOR 20
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 19
An interconnected data infrastructure to support large-scale rare disease research 14
KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model 13
CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models 10
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 8
Totale 4.389
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Categoria #
all - tutte 20.079
article - articoli 18.397
book - libri 0
conference - conferenze 296
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 38.772
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021384 0 0 0 119 12 16 36 37 25 74 45 20
2021/2022357 12 14 19 29 19 12 11 85 24 39 29 64
2022/2023478 42 41 14 39 86 63 9 35 68 3 72 6
2023/2024397 19 52 8 49 31 59 20 29 16 16 33 65
2024/20251.302 41 68 21 79 139 127 118 251 78 72 169 139
2025/2026725 283 69 228 145 0 0 0 0 0 0 0 0
Totale 4.389