Citation Impact
Citing Papers
orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization
2004
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
A Sulfilimine Bond Identified in Collagen IV
2009 StandoutScienceNobel
Ciliary Polycystin-2 Is a Mechanosensitive Calcium Channel Involved in Nitric Oxide Signaling Cascades
2009
Polycystin-1 Activates and Stabilizes the Polycystin-2 Channel
2003
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
2019
Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy
2019
Surveillance for severe acute respiratory infections (SARI) in hospitals in the WHO European region - an exploratory analysis of risk factors for a severe outcome in influenza-positive SARI cases
2015
Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report
2019
PKHD1mutations in autosomal recessive polycystic kidney disease (ARPKD)
2004
Imitators of Severe Pre-eclampsia
2009
International Union of Pharmacology. XLIX. Nomenclature and Structure-Function Relationships of Transient Receptor Potential Channels
2005 StandoutNobel
Subcellular localization and trafficking of polycystins
2005
Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects
2001
Rapid and quantitative DNA analysis of genetic mutations for polycystic kidney disease (PKD) using magnetic/luminescent nanoparticles
2008
Calcium signalling: dynamics, homeostasis and remodelling
2003 Standout
Lipid nanoparticles for mRNA delivery
2021 Standout
Effect of Gender on the Progression of Nondiabetic Renal Disease
2000
ThermoTRP channels and beyond: mechanisms of temperature sensation
2003 StandoutNobel
Identification of the Gene for Oral-Facial-Digital Type I Syndrome
2001
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020
Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the β-catenin gene
2001
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue
1999
Vasopressin Directly Regulates Cyst Growth in Polycystic Kidney Disease
2007
The Molecular Basis of Goodpasture and Alport Syndromes
2004
Rhabdomyolysis and Acute Kidney Injury
2009 Standout
Global Prevalence of Chronic Kidney Disease – A Systematic Review and Meta-Analysis
2016 Standout
Arrestin Development: Emerging Roles for β-arrestins in Developmental Signaling Pathways
2009 StandoutNobel
Polycystic kidney disease
2018
The pathogenesis of autosomal dominant polycystic kidney disease: an update
2000
Expert Statements on the Standard of Care in Critically Ill Adult Patients With Atypical Hemolytic Uremic Syndrome
2017
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
2003 Standout
Atypical Hemolytic–Uremic Syndrome
2009
Volume Progression in Autosomal Dominant Polycystic Kidney Disease
2005
International Union of Basic and Clinical Pharmacology. LXXVI. Current Progress in the Mammalian TRP Ion Channel Family
2010
Plasma Exchange in Rapidly Progressive Renal Failure Due to Multiple Myeloma
1999
Complement: a key system for immune surveillance and homeostasis
2010 Standout
Methods for in vitro evaluating antimicrobial activity: A review
2015 Standout
PKD1 Unusual DNA Conformations Are Recognized by Nucleotide Excision Repair
2001
Mechanically Activated Ion Channels
2015 StandoutNobel
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
The calcineurin inhibitor tacrolimus activates the renal sodium chloride cotransporter to cause hypertension
2011
Effect of hydro-osmotic pressure on polycystin-2 channel function in the human syncytiotrophoblast
2005
Polycystin-2 Is a Novel Cation Channel Implicated in Defective Intracellular Ca2+ Homeostasis in Polycystic Kidney Disease
2001
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway
2010
Monocilia on chicken embryonic endocardium in low shear stress areas
2005
TRP channels as cellular sensors
2003 StandoutNature
Development, maintenance and disruption of the blood-brain barrier
2013 Standout
The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease
2002
Molecular Genetics and Mechanism of Autosomal Dominant Polycystic Kidney Disease
2000
Chronic kidney disease and cardiovascular risk: epidemiology, mechanisms, and prevention
2013 Standout
The genetics and physiology of polycystic kidney disease
2001
Volume Progression in Polycystic Kidney Disease
2006
Tuberous sclerosis
2008 Standout
Molecular regulation of angiogenesis and lymphangiogenesis
2007 Standout
Polycystin
2001
Pre-eclampsia
2010 Standout
M-Type Phospholipase A 2 Receptor as Target Antigen in Idiopathic Membranous Nephropathy
2009 Standout
Extracorporeal light chain elimination: high cut-off (HCO) hemodialysis parallel to chemotherapy allows for a high proportion of renal recovery in multiple myeloma patients with dialysis-dependent acute kidney injury
2011
Polycystin-2 is an intracellular calcium release channel
2002
Mechanisms of fibrosis: therapeutic translation for fibrotic disease
2012 Standout
Pathogenesis and treatment of renal failure in multiple myeloma
2008
Autosomal Dominant Polycystic Kidney Disease
2008
Cardiac defects and renal failure in mice with targeted mutations in Pkd2
2000
Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen
2003
Hyperuricemia and deterioration of renal function in autosomal dominant polycystic kidney disease
2014
Kidney Volume and Functional Outcomes in Autosomal Dominant Polycystic Kidney Disease
2012
αvβ6 Integrin Regulates Renal Fibrosis and Inflammation in Alport Mouse
2007
A transcriptional network in polycystic kidney disease
2004
Autosomal dominant polycystic kidney disease
2007
Focal Segmental Glomerulosclerosis
2011
Evolving importance of kidney disease: from subspecialty to global health burden
2013
Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease
2012 Standout
Differential Diagnosis of Glomerular Disease: A Systematic and Inclusive Approach
2013 Standout
Transient Receptor Potential Cation Channels in Disease
2007 Standout
Current advances in molecular genetics of autosomal-dominant polycystic kidney disease
2001
DNA Repair Excision Nuclease Attacks Undamaged DNA
2001 StandoutNobel
Early Reduction of Serum-Free Light Chains Associates with Renal Recovery in Myeloma Kidney
2011
Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications
2001
Chronic Kidney Disease
2016 Standout
Short-term effects of tolvaptan on renal function and volume in patients with autosomal dominant polycystic kidney disease
2011
Eculizumab Therapy in Children with Severe Hematopoietic Stem Cell Transplantation–Associated Thrombotic Microangiopathy
2013
Efficient Removal of Immunoglobulin Free Light Chains by Hemodialysis for Multiple Myeloma
2007
The primary cilium: a signalling centre during vertebrate development
2010 Standout
DNA methylation and human disease
2005 Standout
A catalogue of imprinted genes and parent-of-origin effects in humans and animals
1998
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
2008
2021 Guideline for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack: A Guideline From the American Heart Association/American Stroke Association
2021 Standout
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Chronic Kidney Disease Diagnosis and Management
2019 Standout
Magnesium in Man: Implications for Health and Disease
2014 Standout
Lanthanide Luminescence for Biomedical Analyses and Imaging
2010 Standout
Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease
1991
A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis
2012 StandoutNobel
A microbial TRP-like polycystic-kidney-disease-related ion channel gene
2005
Focal segmental glomerulosclerosis in pediatric kidney transplantation: 30 years’ experience
2016
Guidelines for the Primary Prevention of Stroke
2014 Standout
The Tuberous Sclerosis Complex and its Highly Variable Manifestations
2003
Genetic and epigenetic factors influencing chronic kidney disease
2014
Thoracic aortic dissection in a patient with autosomal dominant polycystic kidney disease.
2001
Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene
2001
Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif
2006
Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development
2004
Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease
2017
Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca 2+ -permeable nonselective cation channel
2000
Piezo1, a mechanically activated ion channel, is required for vascular development in mice
2014 StandoutNobel
Hepatitis C Virus Heteroduplex Tracking Assay for Genotype Determination Reveals Diverging Genotype 2 Isolates in Italian Hemodialysis Patients
1998 StandoutNobel
Plasma Exchange When Myeloma Presents as Acute Renal Failure
2005
Pathobiology of focal segmental glomerulosclerosis
2012
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
Gout
2021 Standout
Recent Developments in Vascular Endothelial Cell Transient Receptor Potential Channels
2005
Polycystins and Primary Cilia: Primers for Cell Cycle Progression
2009
Lanthanide-Based Luminescent Hybrid Materials
2009 Standout
Emerging Targets in Photopharmacology
2016 StandoutNobel
Multiple Myeloma
2011 Standout
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
Polycystin channels and kidney disease
2001
TRP Channels
2007 Standout
Polycystic Kidney Disease
2008
Atezolizumab and Nab-Paclitaxel in Advanced Triple-Negative Breast Cancer
2018 Standout
Effects of Disturbed Flow on Vascular Endothelium: Pathophysiological Basis and Clinical Perspectives
2011 Standout
Works of Roser Torrá being referenced
Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo
2016
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso
2015
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients
2000
Comparison of phenotypes of polycystic kidney disease types 1 and 2
1999
Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form
2000
Unified Criteria for Ultrasonographic Diagnosis of ADPKD
2008
Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis
1999
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement
2019
Prevalence of Cysts in Seminal Tract and Abnormal Semen Parameters in Patients with Autosomal Dominant Polycystic Kidney Disease
2008
Interfamilial and Intrafamilial Variability of Clinical Expression in ADPKD1
2015
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients
2000
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
2018
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
2005
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
2011
Epidemiological analysis of severe hospitalized 2009 pandemic influenza A (H1N1) cases in Catalonia, Spain
2011
Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
2010
Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1
1997
HLA-DQA1 and PLA2R1 Polymorphisms and Risk of Idiopathic Membranous Nephropathy
2013
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease
1997
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
2003
Patients with multiple myeloma requiring long‐term dialysis: presenting features, response to therapy, and outcome in a series of 20 cases
1995
Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy
2008
Renal manifestations in Fabry disease and therapeutic options
2008
Mutations in theCOL4A4 and COL4A3 Genes Cause Familial Benign Hematuria
2002
Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease
1999
Coordinate Expression of the Autosomal Dominant Polycystic Kidney Disease Proteins, Polycystin-2 And Polycystin-1, in Normal and Cystic Tissue
1999
Abdominal sonographic study of autosomal dominant polycystic kidney disease
2000
A Loss-of-Function Model for Cystogenesis in Human Autosomal Dominant Polycystic Kidney Disease Type 2
1999
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
2015
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease
1999
Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies
1998
Ciclosporin-induced hypertension is associated with increased sodium transporter of the loop of Henle (NKCC2)
2007
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families
1998
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication
1997
Mutational analysis within the 3′ region of the PKD1 gene
1999
Location of mutations within the PKD2 gene influences clinical outcome
2000
An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus document
2015
Collagen type IV ( 3- 4) nephropathy: from isolated haematuria to renal failure
2004
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy
2017
Fatal rupture of a mycotic aneurysm of the subclavian artery: an unusual complication of methicillin-resistant Staphylococcus-aureus-related sepsis
1994
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.
1996
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing
2014
Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease.
1997
Successful pregnancy in a patient with hemolytic-uremic syndrome during the second trimester of pregnancy.
1996
[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease].
1998