| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1009619774 |
| P356 | DOI | 10.1038/KI.2008.686 |
| P932 | PMC publication ID | 2813773 |
| P698 | PubMed publication ID | 19165178 |
| P5875 | ResearchGate publication ID | 23934288 |
| P50 | author | Lesley Rees | Q16106059 |
| P2093 | author name string | Sushmita Roy | |
| Patrick Niaudet | |||
| Peter C Harris | |||
| Vicente E Torres | |||
| Sandro Rossetti | |||
| Katharina Hopp | |||
| Dominique Chauveau | |||
| Sharon W Horsley | |||
| Mark B Consugar | |||
| Vickie J Kubly | |||
| William G van't Hoff | |||
| T Martin Barratt | |||
| P2860 | cites work | Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation | Q24317412 |
| Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. | Q24336734 | ||
| Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene | Q24677791 | ||
| Somatic inactivation of Pkd2 results in polycystic kidney disease | Q74502174 | ||
| Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease | Q80507407 | ||
| Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease | Q80889030 | ||
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| Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation | Q81529574 | ||
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| Amino acid difference formula to help explain protein evolution | Q29614440 | ||
| Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome | Q29615746 | ||
| The 10 sea urchin receptor for egg jelly proteins (SpREJ) are members of the polycystic kidney disease-1 (PKD1) family | Q30832670 | ||
| Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie | Q33595575 | ||
| Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. | Q33675621 | ||
| Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease | Q33680005 | ||
| Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group | Q33852423 | ||
| Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications | Q34043790 | ||
| Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease | Q34146291 | ||
| Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus | Q34210605 | ||
| Anticipation of age at renal death in autosomal dominant polycystic kidney disease (ADPKD)? | Q34371419 | ||
| Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease | Q34388968 | ||
| Defining a link with autosomal-dominant polycystic kidney disease in mice with congenitally low expression of Pkd1 | Q35070705 | ||
| Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach | Q35250423 | ||
| Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations | Q35882462 | ||
| A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1 | Q36549183 | ||
| An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases | Q36756754 | ||
| Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease | Q36788898 | ||
| Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome | Q37374452 | ||
| Determinants of renal volume in autosomal-dominant polycystic kidney disease | Q37465543 | ||
| Autosomal dominant polycystic kidney disease in the fetus. | Q40696201 | ||
| A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). | Q41207734 | ||
| Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population. | Q42208148 | ||
| Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). | Q42691857 | ||
| Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease | Q44411513 | ||
| Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation | Q46477829 | ||
| Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease | Q46766436 | ||
| Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice | Q46954400 | ||
| The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. | Q48056738 | ||
| Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. | Q54101556 | ||
| The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium | Q55670205 | ||
| The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease | Q56673280 | ||
| Evidence of Oligogenic Inheritance in Nephronophthisis | Q57200229 | ||
| Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease | Q63434611 | ||
| Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease? | Q69922186 | ||
| Evidence for a third genetic locus for autosomal dominant polycystic kidney disease | Q72258871 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cyst | Q193211 |
| P304 | page(s) | 848-855 | |
| P577 | publication date | 2009-01-21 | |
| P1433 | published in | Kidney International | Q6404823 |
| P1476 | title | Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease | |
| P478 | volume | 75 |
| Q36987695 | A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease |
| Q28590393 | A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation |
| Q33926310 | A missense mutation in PKD1 attenuates the severity of renal disease |
| Q30405682 | A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers |
| Q35170215 | A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease. |
| Q26800974 | A polycystin-centric view of cyst formation and disease: the polycystins revisited |
| Q44495670 | Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease |
| Q49789913 | Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease. |
| Q36315686 | Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus. |
| Q47101374 | Autosomal Dominant Polycystic Kidney Patients May Be Predisposed to Various Cardiomyopathies |
| Q51153126 | Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. |
| Q34621895 | Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele. |
| Q37320919 | Autosomal dominant polycystic kidney disease: 2009 update for internists |
| Q54314428 | Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. |
| Q28079782 | Autosomal dominant polycystic kidney disease: recent advances in clinical management |
| Q34481426 | Autosomal dominant polycystic kidney disease: the changing face of clinical management |
| Q24656249 | Autosomal dominant polycystic kidney disease: the last 3 years |
| Q34467747 | Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. |
| Q35030818 | B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis |
| Q101476546 | Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease |
| Q55601184 | Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. |
| Q91698486 | CD8+ T cells modulate autosomal dominant polycystic kidney disease progression |
| Q35894689 | Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors |
| Q51093238 | Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. |
| Q91647818 | Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD) |
| Q34366204 | Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic |
| Q36624649 | Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease |
| Q63434582 | Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease |
| Q86296609 | Cyst expansion and regression in a mouse model of polycystic kidney disease |
| Q38733842 | Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease |
| Q36420786 | Cystic kidney diseases: many ways to form a cyst |
| Q39514878 | Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). |
| Q33723857 | Determinants of renal disease variability in ADPKD. |
| Q37806654 | Diagnosis and management of childhood polycystic kidney disease |
| Q34444336 | Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing |
| Q38978474 | Diagnostic Evaluation as a Biomarker in Patients with ADPKD. |
| Q35868521 | Effects of pyrrolidine dithiocarbamate on proliferation and nuclear factor-κB activity in autosomal dominant polycystic kidney disease cells |
| Q37432510 | Emerging evidence of a link between the polycystins and the mTOR pathways |
| Q34350444 | Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. |
| Q53091941 | Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. |
| Q48216298 | Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children? |
| Q27001230 | Experimental therapies and ongoing clinical trials to slow down progression of ADPKD |
| Q36357916 | Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity |
| Q95841110 | Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Famili |
| Q47781166 | Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases |
| Q38978453 | Genetic Mechanisms of ADPKD. |
| Q33872509 | Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease |
| Q38255110 | Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. |
| Q34050928 | High Resolution Melt analysis for mutation screening in PKD1 and PKD2. |
| Q51746593 | High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD). |
| Q91997317 | Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD |
| Q64269744 | Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease |
| Q34181261 | Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing |
| Q92643346 | Identification of housekeeping genes for microRNA expression analysis in kidney tissues of Pkd1 deficient mouse models |
| Q36343363 | Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease |
| Q34423262 | Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials |
| Q35124261 | Imaging-based diagnosis of autosomal dominant polycystic kidney disease |
| Q27303409 | Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy |
| Q35153173 | Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. |
| Q37697510 | Inhibition of Comt with tolcapone slows progression of polycystic kidney disease in the more severely affected PKD/Mhm (cy/+) substrain of the Hannover Sprague-Dawley rat. |
| Q92227120 | International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people |
| Q34075129 | Interpretation of array comparative genome hybridization data: a major challenge |
| Q34436755 | Kidney: polycystic kidney disease. |
| Q36475048 | LRP5 variants may contribute to ADPKD |
| Q41823915 | Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease |
| Q91013837 | Metabolism and mitochondria in polycystic kidney disease research and therapy |
| Q34155498 | MicroRNAs and Polycystic Kidney Disease. |
| Q36426096 | MicroRNAs regulate renal tubule maturation through modulation of Pkd1. |
| Q55420112 | Modeling Renal Disease "On the Fly". |
| Q33723862 | Molecular advances in autosomal dominant polycystic kidney disease |
| Q34980440 | Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics |
| Q37882447 | Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease. |
| Q39445724 | Molecular diagnosis of autosomal dominant polycystic kidney disease |
| Q34100184 | Molecular diagnostics for autosomal dominant polycystic kidney disease |
| Q35578646 | Molecular pathways and therapies in autosomal-dominant polycystic kidney disease |
| Q33856965 | Murine Models of Polycystic Kidney Disease. |
| Q34228262 | Mutations in multiple PKD genes may explain early and severe polycystic kidney disease |
| Q49494721 | New treatment paradigms for ADPKD: moving towards precision medicine |
| Q44009665 | Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease |
| Q35138042 | Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. |
| Q64109765 | PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease |
| Q31111757 | PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data. |
| Q27000075 | Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy |
| Q40195826 | Polycystic Kidney Disease without an Apparent Family History |
| Q27012746 | Polycystic kidney disease - where gene dosage counts |
| Q34194508 | Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment |
| Q30576337 | Polycystin-1 regulates actin cytoskeleton organization and directional cell migration through a novel PC1-Pacsin 2-N-Wasp complex |
| Q26826955 | Polycystin-1: a master regulator of intersecting cystic pathways |
| Q30539186 | Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy |
| Q91742894 | Polycystins and Mechanotransduction in Human Disease |
| Q38914739 | Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease |
| Q34427678 | Predictors of autosomal dominant polycystic kidney disease progression |
| Q33979298 | Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease |
| Q38935264 | Recent advances in autosomal-dominant polycystic kidney disease. |
| Q98292957 | Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease |
| Q36944701 | Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease |
| Q42556886 | Role of extracellular ATP and P2 receptor signaling in regulating renal cyst growth and interstitial inflammation in polycystic kidney disease |
| Q36877524 | Simple Renal Cysts as Markers of Thoracic Aortic Disease |
| Q51629751 | Simultaneous adult polycystic kidney disease and Alport syndrome. |
| Q90451238 | Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease |
| Q37528649 | Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation |
| Q26863397 | Spanish guidelines for the management of autosomal dominant polycystic kidney disease |
| Q83224720 | Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease |
| Q36003176 | The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees |
| Q50023752 | The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians |
| Q34149966 | The cell biology of polycystic kidney disease |
| Q51741625 | The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling. |
| Q38131014 | The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD). |
| Q91447644 | The role of DNA damage as a therapeutic target in autosomal dominant polycystic kidney disease |
| Q36968695 | Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level? |
| Q36139827 | Transcription Factor Hepatocyte Nuclear Factor-1β (HNF-1β) Regulates MicroRNA-200 Expression through a Long Noncoding RNA |
| Q38241290 | Translational research in ADPKD: lessons from animal models |
| Q36880400 | Type of PKD1 mutation influences renal outcome in ADPKD. |
| Q57815283 | Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease |
| Q36277754 | Utilizing magnetization transfer imaging to investigate tissue remodeling in a murine model of autosomal dominant polycystic kidney disease |
| Q38919283 | Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic Context. |
| Q37187461 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease |
| Q37413366 | X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure |
| Q36651027 | mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex |
| Q36967821 | miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease |
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