Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  The Lancet

• Publication date

  2003-06-28

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0140-6736(03)13773-7PMID 12842373
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Familial intracranial aneurysms.

  2004cited by this paper
• Genetics and Pathogenesis of Polycystic Kidney Disease

  2002cited by this paper
• Genetics and pathogenesis of polycystic kidney disease.

  2002cited by this paper
• A complete mutation screen of the ADPKD genes by DHPLC.

  2002cited by this paper
• Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations

  2002cited by this paper
• Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.

  2002cited by this paper
• The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

  2002cited by this paper
• Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease.

  2001cited by this paper
• Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

  2001cited by this paper
• Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1.

  2000cited by this paper
• Cardiac defects and renal failure in mice with targeted mutations in Pkd2

  2000cited by this paper
• Polycystin 1 is required for the structural integrity of blood vessels.

  2000cited by this paper
• Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

  1999cited by this paper
• A latrophilin/CL-1-like GPS domain in polycystin-1.

  1999cited by this paper
• Spontaneous artery dissection: is it part of the spectrum of autosomal dominant polycystic kidney disease?

  1998cited by this paper
• Somatic inactivation of Pkd2 results in polycystic kidney disease.

  1998cited by this paper
• Familial intracranial aneurysms.

  1997cited by this paper
• Vascular expression of polycystin-2.

  1997cited by this paper
• Intracranial arterial dolichoectasia in autosomal dominant polycystic kidney disease.

  1997cited by this paper
• Vascular expression of polycystin.

  1997cited by this paper
• Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography.

  1996cited by this paper
• PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

  1996cited by this paper
• Patients with polycystic kidney disease would benefit from routine magnetic resonance angiographic screening for intracerebral aneurysms: a decision analysis.

  1996cited by this paper
• The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

  1996cited by this paper
• Causes of death in autosomal dominant polycystic kidney disease.

  1995cited by this paper
• The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

  1995cited by this paper
• Intracranial aneurysms in polycystic kidney disease linked to chromosome 4.

  1995cited by this paper
• Intracranial aneurysms in autosomal dominant polycystic kidney disease.

  1994cited by this paper
• Value of magnetic resonance angiography for the detection of intracranial aneurysms in autosomal dominant polycystic kidney disease.

  1993cited by this paper
• Genetic heterogeneity of polycystic kidney disease in Europe.

  1992cited by this paper
• Intracranial aneurysms in autosomal dominant polycystic kidney disease.

  1992cited by this paper
• Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease.

  1992cited by this paper

• Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases

  2025cites this paper
• Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management.

  2025cites this paper
• Silent Risk, Real-World Insight From an Italian Center: Rethinking Intracranial Aneurysm Screening in ADPKD.

  2025cites this paper
• Cardiovascular Complications in ADPKD

  2025influential citation
• KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD).

  2025cites this paper
• Novel PKD1 Mutation (c.G10086T) Drives High Intracranial Aneurysm Risk in Autosomal Dominant Polycystic Kidney Disease

  2025cites this paper
• Impact of Chronic Kidney Disease on Aortic Dissection in Patients with Polycystic Kidney Disease: A Fifteen-year Nationwide Population-based Cohort Study in Taiwan

  2025cites this paper
• Endovascular Management of Renal Artery Pseudoaneurysm in Autosomal Dominant Polycystic Kidney Disease: A Case Report

  2024cites this paper
• Cardiovascular Manifestations and Management in ADPKD

  2023cites this paper
• Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

  2023cites this paper
• Vascular Complications in Autosomal Dominant Polycystic Kidney Disease: Perspectives, Paradigms, and Current State of Play.

  2023cites this paper
• Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation

  2022cites this paper
• Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease

  2022cites this paper
• Diagnosis and Risk Factors for Intracranial Aneurysms in Autosomal Polycystic Kidney Disease: A cross-sectional study from the Genkyst Cohort.

  2022cites this paper
• Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease

  2022cites this paper
• Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Tunisia: from molecular genetics to the development of prognostic tools

  2022cites this paper
• PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease.

  2021cites this paper
• MR Brain Screening in ADPKD Patients

  2021cites this paper
• [Cardiovascular disorders in autosomal dominant polycystic kidney disease].

  2021cites this paper
• Detection of a novel mutation in a Tunisian child with polycystic kidney disease

  2020cites this paper
• Lack of impact of polycystic kidney disease on the outcome of aneurysmal subarachnoid hemorrhage: a matched case-control study.

  2020cites this paper
• Cerebral Microbleeds in Autosomal Dominant Polycystic Kidney Disease

  2020cites this paper
• Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations

  2020cites this paper
• Prognosis of Vascular Access in Haemodialysis Patients with Autosomal Dominant Polycystic Kidney Disease

  2020cites this paper
• Endothelial-epithelial communication in polycystic kidney disease: Role of vascular endothelial growth factor signalling.

  2020cites this paper
• Leucine Rich Repeat Proteins: Sequences, Mutations, Structures and Diseases.

  2019cites this paper
• Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease

  2019cites this paper
• Specific interventions to prevent intracranial hemorrhage

  2019cites this paper
• Multiple simple renal cysts and sequential, rapid progressive, aneurysmatic aortoiliac and femoral artery disease: case report and review of the literature.

  2019cites this paper
• Intracranial aneurysms in patients receiving kidney transplantation for autosomal dominant polycystic kidney disease

  2019cites this paper
• Spleen phenotype in autosomal dominant polycystic kidney disease.

  2019cites this paper
• Nephrogenetics and Nephrodiagnostics: Contemporary Molecular Approaches in the Genomics Era

  2018cites this paper
• 64 – Fibrocystic Diseases of the Liver

  2018cites this paper
• Gαi-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation

  2018cites this paper
• Developmental and Inherited Liver Disease

  2018cites this paper
• Is the light at the end of the tunnel nigh? A review of ADPKD focusing on the burden of disease and tolvaptan as a new treatment

  2018cites this paper
• The Roles of Primary Cilia in Cardiovascular Diseases

  2018cites this paper
• Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

  2018cites this paper
• The Role of Inflammation and Fibrosis in Cystic Kidney Disease

  2018cites this paper
• Classical Polycystic Kidney Disease: Gene Structures and Mutations and Protein Structures and Functions

  2018cites this paper
• A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

  2018cites this paper
• Renal Agenesis, Dysplasia, Hypoplasia, and Cystic Diseases of the Kidney

  2018cites this paper
• A Large Database Analysis of Rates of Aneurysm Screening, Elective Treatment, and Subarachnoid Hemorrhage in Patients With Polycystic Kidney Disease.

  2018cites this paper
• Clinical problems in hemodialysis patients with autosomal dominant polycystic kidney disease

  2018cites this paper
• Other Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease

  2018cites this paper
• Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection

  2018cites this paper
• [Screening and management of intracranial aneurisms in patients with autosomal dominant polycystic kidney disease].

  2017cites this paper
• Codon Usage of Autosomal Dominant Polycystic Kidney Disease Genes PKD1 and PKD2

  2017cites this paper
• A potentially crucial role of the PKD1 C-terminal tail in renal prognosis

  2017cites this paper
• Diagnostic and Prognostic Biomarkers in Autosomal Dominant Polycystic Kidney Disease

  2017cites this paper
• High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study.

  2017cites this paper
• The molecular mechanisms of autosomal dominant polycystic kidney disease

  2017cites this paper
• Polycystic kidney disease

  2017cites this paper
• Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.

  2017cites this paper
• Polycystic Kidney Disease.

  2017cites this paper
• Next generation sequencing to determine a genetic cause of familial intracranial aneurysms

  2017influential citation
• A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

  2016cites this paper
• Aneurismi arteriosi intracranici

  2016cites this paper
• Polycystic Kidney Disease: ADPKD and ARPKD

  2016cites this paper
• Cardiovascular Phenotype in Patients with Autosomal Dominant Polycystic Kidney Disease : Current State , Screening and Prevention

  2016cites this paper
• Aortic Dissection is Associated with Reduced Polycystin-1 Expression, an Abnormality That Leads to Increased ERK Phosphorylation in Vascular Smooth Muscle Cells

  2016cites this paper
• Polycystic Kidney Disease , Autosomal Dominant Synonym : ADPKD

  2016influential citation
• Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists

  2016cites this paper
• Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models

  2016cites this paper
• Contributions of Ouabain to the Autosomal Dominant Polycystic Kidney Disease Phenotype

  2016cites this paper
• Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

  2016cites this paper
• Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

  2016cites this paper
• Suitability of Patients with Autosomal Dominant Polycystic Kidney Disease for Renal Transcatheter Arterial Embolization.

  2016cites this paper
• Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

  2016cites this paper
• Anévrismes artériels intracrâniens

  2015cites this paper
• A polycystin-centric view of cyst formation and disease: the polycystins revisited

  2015cites this paper
• Renal Tumors and Tumor-Like Conditions

  2015cites this paper
• Vascular complications in autosomal dominant polycystic kidney disease

  2015cites this paper
• KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.

  2015cites this paper
• Genetic markers and their influence on cerebrovascular malformations.

  2015cites this paper
• Genomic Methods in the Diagnosis and Treatment of Pediatric Kidney Disease

  2015cites this paper
• KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Intracranial Aneurysms.

  2015cites this paper
• Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring.

  2015cites this paper
• Soluble receptor for advanced glycation end products inhibits disease progression in autosomal dominant polycystic kidney disease by down‐regulating cell proliferation

  2015cites this paper
• Diagnostic Imaging of Autosomal Dominant Polycystic Kidney Disease

  2015cites this paper
• Statistical modelling and analysis of ion channel data

  2014cites this paper
• Autosomal dominant polycystic kidney disease: genetics, epidemiology, and treatment

  2014cites this paper
• Traditional and Proteomic Biomarkers of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  2014cites this paper
• Clinical and Radiological Heterogeneity in Aneurysmal Sub-Arachnoid Haemorrhage According to Risk-Factor Profile

  2014cites this paper
• Cystic and noncystic complications of ADPKD CYSTIC COMPLICATIONS Renal cysts Hypertension Pain Bleeding Urinary tract infection Infected cyst Renal stones Urinary tract obstruction Progressive enlargement

  2014cites this paper
• The Bench to Bedside Transition – Exceptional Case Sudden death due to subarachnoid haemorrhage in an infant with autosomal dominant polycystic kidney disease

  2014cites this paper
• Aberrant intracellular calcium cycling in the heart : mechanistic insights into catecholaminergic polymorphic ventricular tachycardia and heart failure

  2014cites this paper
• Predictors of autosomal dominant polycystic kidney disease progression.

  2014cites this paper
• IDENTIFICATION OF C/T GENETIC MARKER IN AUTOSOMAL POLYCYSTIC KIDENY DISEASE AMONG SOUTH INDIAN POPULATION (MADURAI)

  2014cites this paper
• Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management

  2014cites this paper
• Sudden death due to subarachnoid haemorrhage in an infant with autosomal dominant polycystic kidney disease.

  2014cites this paper
• Advances in autosomal dominant polycystic kidney disease—2014 and beyond

  2014cites this paper
• Should Patients with Autosomal Dominant Polycystic Kidney Disease Be Screened for Cerebral Aneurysms?

  2014cites this paper
• Genetic Disorders of the Vasculature

  2014cites this paper
• Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

  2014cites this paper
• Full Review Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management

  2014cites this paper
• Translational research in ADPKD: lessons from animal models

  2014cites this paper
• A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.

  2014cites this paper
• Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management.

  2014cites this paper
• Complications of polycystic kidney disease

  2013cites this paper