IRIS
RAMPOLDI, LUCA
 Distribuzione geografica
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Continente #
EU - Europa 559
NA - Nord America 288
AS - Asia 32
Continente sconosciuto - Info sul continente non disponibili 2
Totale 881
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Nazione #
SE - Svezia 288
US - Stati Uniti d'America 286
NL - Olanda 166
FI - Finlandia 27
IT - Italia 25
DE - Germania 20
IE - Irlanda 19
CN - Cina 15
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
RU - Federazione Russa 2
TR - Turchia 2
GR - Grecia 1
MK - Macedonia 1
MY - Malesia 1
TH - Thailandia 1
UA - Ucraina 1
Totale 881
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Città #
Meppel 161
Lawrence 79
Princeton 79
New York 34
Ashburn 31
Helsinki 26
Dublin 19
Shanghai 13
Milan 11
Frankfurt am Main 10
Pune 6
Los Angeles 5
Manassas 4
Martin 4
Badajoz 3
Florence 3
Rockville 3
Ankara 2
Dronten 2
Lahore 2
San Giovanni in Persiceto 2
Brussels 1
Exeter 1
Genoa 1
Hanover 1
Kako 1
Kuala Lumpur 1
Kyoto 1
Lappeenranta 1
Louvain 1
Marsala 1
Merate 1
Mumbai 1
Naaldwijk 1
Padova 1
Seattle 1
Washington 1
Zanjan 1
Totale 516
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Nome #
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients 175
Chorea-Acanthocytosis 21
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein 17
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 16
Common noncoding UMOD promoter variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression 15
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 14
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 14
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 14
The Interaction of the Tumor Suppressor FAM46C with p62 and FNDC3 Proteins Integrates Protein and Secretory Homeostasis 14
McLeod neuroacanthocytosis: Genotype and phenotype 14
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein 14
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 14
Uromodulin: Roles in Health and Disease 13
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report 13
Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia HNF1B nephropathy 12
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner 12
Chromosomal localization of four MAPK signaling cascade genes: MEK1, MEK3, MEK4 and MEKK5 RID G-8211-2011 RID E-2182-2011 12
A structured interdomain linker directs self-polymerization of human uromodulin 12
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage 12
A novel truncated form of eNOS associates with altered vascular function 11
Uromodulin storage diseases: Clinical aspects and mechanisms 11
Clinical features and molecular bases of neuroacanthocytosis 11
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 11
Uromodulin: from physiology to rare and complex kidney disorders 11
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 11
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing 11
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity 11
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula 11
Phenotype and genotype in Chorea-Acanthocytosis 11
Chemically based transmissible ER stress protocols are unsuitable to study cell-to-cell UPR transmission 10
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure 10
Protein trafficking defects in inherited kidney diseases 10
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy 10
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes 10
Neurologic phenotypes associated with acanthocytosis 10
Autosomal dominant tubulointerstitial kidney disease 10
Mutations of UMOD in the tubulo-interstitial diseases MCKD and FJHN associate with intracellular aggregates and excretion reduction of uromodulin 10
Identification and characterisation of the gene for chorea-acanthocytosis 10
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease 9
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 9
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 9
The Association of Uromodulin Genotype with Renal Cancer Aggressiveness 9
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 9
EUNEFRON, the European Network for the Study of Orphan Nephropathies 9
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing 9
Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis 9
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response 9
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations 9
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study 9
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis 9
Genetic basis and animal models in neuroacanthocytosis research 9
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 8
UNMOD gene in salt sensitivity: a new pathogenetic mechanism 8
The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution 8
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 8
The Spectrum of Mutations and Possible Function of the CHAC Gene 8
The preliminary transcript map of a human skeletal muscle RID E-2182-2011 RID G-8211-2011 8
Immature Renal Structures Associated With a Novel UMOD Sequence Variant 8
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis 8
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression 8
Genes involved in blood pressure response tu acute and chronic salt modifications: identification of a new pathway 7
Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer 7
Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1 7
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes 7
The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin 7
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms 7
The effect of common uromodulin variants on urinary protein level and gene transcription 7
Neuroacanthocytosis: new developments in a neglected group of dementing disorders 7
Identification of genetic factors for alachlor tolerance in maize by molecular markers analysis 7
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease 7
Defective intracellular trafficking of uromodulin mutant isoforms 6
Different molecular consequences of frameshift mutations in the ANTXR2 gene 6
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates 6
Mechanistic Interactions of Uromodulin with the Thick Ascending Limb: Perspectives in Physiology and Hypertension 6
Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases 5
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 5
Genes involved in blood pressure response to chronic low salt intake: identification of a new pathway. 5
UMOD gene in salt sensitivity: a new pathogenetic mechanism. 5
Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1) 5
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations 5
Peptidomic Analysis of Urine from Youths with Early Type 1 Diabetes Reveals Novel Bioactivity of Uromodulin Peptides In Vitro 5
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease 4
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response 3
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease 1
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Totale 956
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Categoria #
all - tutte 14.118
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 14.118
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201 1 0 0 0 0 0 0 0 0 0 0 0
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
2023/2024156 18 7 20 11 10 64 1 12 0 12 1 0
Totale 956