IRIS
RAMPOLDI, LUCA
 Distribuzione geografica
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Continente #
EU - Europa 786
AS - Asia 675
NA - Nord America 371
SA - Sud America 61
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 1.898
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Nazione #
US - Stati Uniti d'America 367
SE - Svezia 288
SG - Singapore 287
CN - Cina 191
NL - Olanda 174
HK - Hong Kong 171
IT - Italia 84
RU - Federazione Russa 74
DE - Germania 71
BR - Brasile 54
FI - Finlandia 37
AT - Austria 21
IE - Irlanda 20
IN - India 9
BE - Belgio 4
CA - Canada 4
PK - Pakistan 4
SK - Slovacchia (Repubblica Slovacca) 4
ES - Italia 3
AR - Argentina 2
BD - Bangladesh 2
CO - Colombia 2
EU - Europa 2
FR - Francia 2
IR - Iran 2
JP - Giappone 2
PY - Paraguay 2
TR - Turchia 2
AU - Australia 1
EC - Ecuador 1
GB - Regno Unito 1
GR - Grecia 1
IQ - Iraq 1
KE - Kenya 1
KZ - Kazakistan 1
MK - Macedonia 1
MY - Malesia 1
TH - Thailandia 1
UA - Ucraina 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 1.898
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Città #
Hong Kong 170
Meppel 161
Shanghai 103
Lawrence 79
Princeton 79
Singapore 78
Moscow 55
Ashburn 35
Helsinki 35
New York 34
Nuremberg 29
Boardman 24
Milan 23
Dublin 19
Cesano Boscone 10
Frankfurt am Main 10
Vienna 10
Falkenstein 9
Shenzhen 7
Beijing 6
Los Angeles 6
Pune 6
Guangzhou 5
Manassas 5
São Paulo 5
Dallas 4
Dongguan 4
Lahore 4
Martin 4
Badajoz 3
Brussels 3
Florence 3
Padova 3
Rockville 3
Taizhou 3
Ankara 2
Bogotá 2
Bologna 2
Brasília 2
Cascina 2
Catanzaro 2
Dronten 2
Hangzhou 2
Jiaxing 2
Kassel 2
Lappeenranta 2
Naples 2
Paderno Dugnano 2
Pisa 2
Rho 2
Rio de Janeiro 2
Romagnano Sesia 2
San Giovanni in Persiceto 2
São José dos Pinhais 2
Toronto 2
Wuhan 2
Wuxi 2
Xi'an 2
Ahmedabad 1
Aktau 1
Anápolis 1
Apucarana 1
Arraial do Cabo 1
Asunción 1
Baghdad 1
Barcarena 1
Belo Horizonte 1
Braço do Norte 1
Campinas 1
Campo Bom 1
Caraguatatuba 1
Cerquilho 1
Chicago 1
Ciudad del Este 1
Cork 1
Cuiabá 1
Curitiba 1
Dhaka 1
Divinópolis 1
Engenheiro Paulo de Frontin 1
Exeter 1
Feira de Santana 1
Forest City 1
Franca 1
Garanhuns 1
Genoa 1
Groningen 1
Hanover 1
Hortolândia 1
Huzhou 1
Ituverava 1
Itápolis 1
Jaraguá do Sul 1
Jataúba 1
Johannesburg 1
Kako 1
Kuala Lumpur 1
Kyoto 1
Limeira 1
London 1
Totale 1.125
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Nome #
null 179
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 47
Chorea-Acanthocytosis 38
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein 36
Uromodulin: Roles in Health and Disease 32
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 31
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report 31
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein 31
A novel truncated form of eNOS associates with altered vascular function 30
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing 30
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 29
The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis 29
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 29
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease 28
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease 28
Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention 28
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner 28
McLeod neuroacanthocytosis: Genotype and phenotype 27
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 27
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 26
Common noncoding UMOD promoter variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression 25
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes 25
Autosomal dominant tubulointerstitial kidney disease 25
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 24
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 24
EUNEFRON, the European Network for the Study of Orphan Nephropathies 24
A structured interdomain linker directs self-polymerization of human uromodulin 24
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study 24
The Association of Uromodulin Genotype with Renal Cancer Aggressiveness 23
Uromodulin storage diseases: Clinical aspects and mechanisms 22
Clinical features and molecular bases of neuroacanthocytosis 22
Chemically based transmissible ER stress protocols are unsuitable to study cell-to-cell UPR transmission 22
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases 21
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 21
Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer 21
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure 21
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes 21
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 21
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage 21
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis 21
Phenotype and genotype in Chorea-Acanthocytosis 21
Mutations of UMOD in the tubulo-interstitial diseases MCKD and FJHN associate with intracellular aggregates and excretion reduction of uromodulin 21
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 21
Uromodulin: from physiology to rare and complex kidney disorders 20
Neurologic phenotypes associated with acanthocytosis 20
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 19
UMOD gene in salt sensitivity: a new pathogenetic mechanism. 19
Protein trafficking defects in inherited kidney diseases 19
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis 19
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula 19
Genetic basis and animal models in neuroacanthocytosis research 19
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 18
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 18
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1) 18
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 18
Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy 18
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy 18
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing 18
Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011 18
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity 18
Genes involved in blood pressure response tu acute and chronic salt modifications: identification of a new pathway 17
The Spectrum of Mutations and Possible Function of the CHAC Gene 17
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin 17
The preliminary transcript map of a human skeletal muscle RID E-2182-2011 RID G-8211-2011 17
Immature Renal Structures Associated With a Novel UMOD Sequence Variant 17
Neuroacanthocytosis: new developments in a neglected group of dementing disorders 17
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression 17
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution 16
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response 16
The effect of common uromodulin variants on urinary protein level and gene transcription 16
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates 16
Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension 16
A novel mouse model recapitulates the effects of rs2254524 variant in the lanosterol synthase gene on salt sensitivity and organ damage 15
Genes involved in blood pressure response to chronic low salt intake: identification of a new pathway. 15
Defective intracellular trafficking of uromodulin mutant isoforms 15
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 15
Different molecular consequences of frameshift mutations in the ANTXR2 gene 15
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease 15
Identification and characterisation of the gene for chorea-acanthocytosis 15
UNMOD gene in salt sensitivity: a new pathogenetic mechanism 14
Fine mapping of five human skeletal muscle genes: Alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-c fast RID E-2182-2011 14
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 13
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations 13
Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro 13
Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis 13
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response 12
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients 2
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Totale 1.995
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Categoria #
all - tutte 25.130
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 25.130
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202290 0 0 0 3 3 0 66 5 5 1 2 5
2022/2023704 193 142 26 4 2 69 25 205 22 3 9 4
2023/2024217 18 7 20 11 10 64 1 12 0 12 14 48
2024/2025978 147 13 64 51 20 82 140 126 235 100 0 0
Totale 1.995