IRIS
RAMPOLDI, LUCA
 Distribuzione geografica
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Continente #
EU - Europa 661
NA - Nord America 327
AS - Asia 296
Continente sconosciuto - Info sul continente non disponibili 2
SA - Sud America 1
Totale 1.287
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Nazione #
US - Stati Uniti d'America 325
SE - Svezia 288
CN - Cina 168
NL - Olanda 167
SG - Singapore 109
RU - Federazione Russa 72
IT - Italia 48
FI - Finlandia 31
DE - Germania 22
IE - Irlanda 19
IN - India 9
SK - Slovacchia (Repubblica Slovacca) 4
ES - Italia 3
AT - Austria 2
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 1.287
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Città #
Meppel 161
Shanghai 81
Lawrence 79
Princeton 79
Singapore 71
Moscow 55
New York 34
Ashburn 32
Helsinki 29
Boardman 24
Dublin 19
Milan 19
Frankfurt am Main 10
Shenzhen 7
Beijing 6
Los Angeles 6
Pune 6
Guangzhou 5
Dallas 4
Dongguan 4
Manassas 4
Martin 4
Badajoz 3
Florence 3
Padova 3
Rockville 3
Taizhou 3
Ankara 2
Dronten 2
Jiaxing 2
Lahore 2
Lappeenranta 2
Naples 2
Pisa 2
San Giovanni in Persiceto 2
Wuhan 2
Wuxi 2
Xi'an 2
Ahmedabad 1
Brussels 1
Chicago 1
Exeter 1
Falkenstein 1
Forest City 1
Genoa 1
Groningen 1
Hangzhou 1
Hanover 1
Huzhou 1
Kako 1
Kassel 1
Kuala Lumpur 1
Kyoto 1
Louvain 1
Marsala 1
Merate 1
Mumbai 1
Naaldwijk 1
Prineville 1
Quanzhou 1
Seattle 1
Springfield 1
Tianjin 1
Washington 1
Wuyuan 1
Zanjan 1
Totale 804
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Nome #
null 179
Chorea-Acanthocytosis 31
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 26
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein 24
The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis 23
McLeod neuroacanthocytosis: Genotype and phenotype 22
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 21
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein 21
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 20
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report 20
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 20
A novel truncated form of eNOS associates with altered vascular function 19
Common noncoding UMOD promoter variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression 19
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 18
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 18
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 18
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing 18
Uromodulin: Roles in Health and Disease 18
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 18
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner 18
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure 17
A structured interdomain linker directs self-polymerization of human uromodulin 17
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study 17
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease 16
Clinical features and molecular bases of neuroacanthocytosis 16
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage 16
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease 15
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 15
Uromodulin storage diseases: Clinical aspects and mechanisms 15
Chemically based transmissible ER stress protocols are unsuitable to study cell-to-cell UPR transmission 15
Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy 15
Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011 15
Autosomal dominant tubulointerstitial kidney disease 15
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity 15
Phenotype and genotype in Chorea-Acanthocytosis 15
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 14
The Association of Uromodulin Genotype with Renal Cancer Aggressiveness 14
Uromodulin: from physiology to rare and complex kidney disorders 14
Protein trafficking defects in inherited kidney diseases 14
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy 14
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing 14
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes 14
Neurologic phenotypes associated with acanthocytosis 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
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases 13
EUNEFRON, the European Network for the Study of Orphan Nephropathies 13
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 13
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 13
Immature Renal Structures Associated With a Novel UMOD Sequence Variant 13
Mutations of UMOD in the tubulo-interstitial diseases MCKD and FJHN associate with intracellular aggregates and excretion reduction of uromodulin 13
Genes involved in blood pressure response tu acute and chronic salt modifications: identification of a new pathway 12
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 12
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution 12
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes 12
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis 12
Identification and characterisation of the gene for chorea-acanthocytosis 12
Genetic basis and animal models in neuroacanthocytosis research 12
UNMOD gene in salt sensitivity: a new pathogenetic mechanism 11
Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer 11
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 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
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
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 11
Neuroacanthocytosis: new developments in a neglected group of dementing disorders 11
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression 11
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 11
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 10
The preliminary transcript map of a human skeletal muscle RID E-2182-2011 RID G-8211-2011 10
Different molecular consequences of frameshift mutations in the ANTXR2 gene 10
Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis 10
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates 10
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 9
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1) 9
Defective intracellular trafficking of uromodulin mutant isoforms 9
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin 9
Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro 9
The effect of common uromodulin variants on urinary protein level and gene transcription 9
Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension 9
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response 8
Genes involved in blood pressure response to chronic low salt intake: identification of a new pathway. 8
UMOD gene in salt sensitivity: a new pathogenetic mechanism. 8
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations 8
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease 7
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Totale 1.371
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Categoria #
all - tutte 21.649
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 21.649
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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
2024/2025354 147 13 64 51 20 59 0 0 0 0 0 0
Totale 1.371