IRIS
RAMPOLDI, LUCA
 Distribuzione geografica
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Continente #
EU - Europa 642
NA - Nord America 321
AS - Asia 197
Continente sconosciuto - Info sul continente non disponibili 2
SA - Sud America 1
Totale 1.163
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Nazione #
US - Stati Uniti d'America 319
SE - Svezia 288
NL - Olanda 167
CN - Cina 94
SG - Singapore 86
RU - Federazione Russa 72
IT - Italia 35
FI - Finlandia 29
DE - Germania 20
IE - Irlanda 19
IN - India 7
SK - Slovacchia (Repubblica Slovacca) 4
ES - Italia 3
BE - Belgio 2
CA - Canada 2
EU - Europa 2
IR - Iran 2
JP - Giappone 2
PK - Pakistan 2
TR - Turchia 2
BR - Brasile 1
GR - Grecia 1
MK - Macedonia 1
MY - Malesia 1
TH - Thailandia 1
UA - Ucraina 1
Totale 1.163
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Città #
Meppel 161
Lawrence 79
Princeton 79
Moscow 55
Singapore 48
New York 34
Ashburn 32
Shanghai 30
Helsinki 27
Boardman 24
Dublin 19
Milan 14
Frankfurt am Main 10
Pune 6
Shenzhen 6
Los Angeles 5
Dallas 4
Guangzhou 4
Manassas 4
Martin 4
Badajoz 3
Beijing 3
Florence 3
Padova 3
Rockville 3
Taizhou 3
Ankara 2
Dronten 2
Jiaxing 2
Lahore 2
Lappeenranta 2
Pisa 2
San Giovanni in Persiceto 2
Brussels 1
Chicago 1
Exeter 1
Forest City 1
Genoa 1
Groningen 1
Hanover 1
Huzhou 1
Kako 1
Kuala Lumpur 1
Kyoto 1
Louvain 1
Marsala 1
Merate 1
Mumbai 1
Naaldwijk 1
Prineville 1
Quanzhou 1
Seattle 1
Springfield 1
Washington 1
Wuxi 1
Wuyuan 1
Xi'an 1
Zanjan 1
Totale 702
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Nome #
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients 179
Chorea-Acanthocytosis 29
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein 22
McLeod neuroacanthocytosis: Genotype and phenotype 21
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Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 19
The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis 19
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 19
Common noncoding UMOD promoter variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression 18
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein 18
Uromodulin: Roles in Health and Disease 17
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 17
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner 17
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report 17
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 16
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 16
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 16
Chemically based transmissible ER stress protocols are unsuitable to study cell-to-cell UPR transmission 15
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure 15
A structured interdomain linker directs self-polymerization of human uromodulin 15
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage 15
A novel truncated form of eNOS associates with altered vascular function 14
Uromodulin storage diseases: Clinical aspects and mechanisms 14
Clinical features and molecular bases of neuroacanthocytosis 14
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing 14
Uromodulin: from physiology to rare and complex kidney disorders 14
Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy 14
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy 14
Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011 14
Autosomal dominant tubulointerstitial kidney disease 14
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity 14
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis 14
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula 14
Phenotype and genotype in Chorea-Acanthocytosis 14
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease 13
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 13
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 13
Protein trafficking defects in inherited kidney diseases 13
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing 13
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes 13
Neurologic phenotypes associated with acanthocytosis 13
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 12
The Association of Uromodulin Genotype with Renal Cancer Aggressiveness 12
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 12
EUNEFRON, the European Network for the Study of Orphan Nephropathies 12
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 12
Immature Renal Structures Associated With a Novel UMOD Sequence Variant 12
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study 12
Mutations of UMOD in the tubulo-interstitial diseases MCKD and FJHN associate with intracellular aggregates and excretion reduction of uromodulin 12
Identification and characterisation of the gene for chorea-acanthocytosis 12
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases 11
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 11
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution 11
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 11
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes 11
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response 11
The Spectrum of Mutations and Possible Function of the CHAC Gene 11
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis 11
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression 11
Genetic basis and animal models in neuroacanthocytosis research 11
UNMOD gene in salt sensitivity: a new pathogenetic mechanism 10
Genes involved in blood pressure response tu acute and chronic salt modifications: identification of a new pathway 10
Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer 10
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 10
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 10
The preliminary transcript map of a human skeletal muscle RID E-2182-2011 RID G-8211-2011 10
Neuroacanthocytosis: new developments in a neglected group of dementing disorders 10
Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis 10
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 10
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1) 9
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin 9
Different molecular consequences of frameshift mutations in the ANTXR2 gene 9
The effect of common uromodulin variants on urinary protein level and gene transcription 9
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates 9
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response 8
Defective intracellular trafficking of uromodulin mutant isoforms 8
Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro 8
Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension 8
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 7
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 7
UMOD gene in salt sensitivity: a new pathogenetic mechanism. 7
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease 7
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations 7
Genes involved in blood pressure response to chronic low salt intake: identification of a new pathway. 6
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease 2
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Totale 1.243
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Categoria #
all - tutte 19.223
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 19.223
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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
2024/2025226 147 13 64 2 0 0 0 0 0 0 0 0
Totale 1.243