| scholarly article | Q13442814 |
| P2093 | author name string | Arseni Markoff | |
| Peter C Harris | |||
| Vicente E Torres | |||
| Samih H Nasr | |||
| Roser Torra | |||
| Elisabet Ars | |||
| Christina M Heyer | |||
| Katharina Hopp | |||
| Nadja Bogdanova | |||
| Mihailo Vujic | |||
| Bengt Rudenhed | |||
| Charlotte Orndal | |||
| P2860 | cites work | The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein | Q24292750 |
| Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation | Q24317412 | ||
| Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3 | Q24337720 | ||
| Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function | Q28594258 | ||
| 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 | ||
| Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group | Q33852423 | ||
| MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome | Q34078625 | ||
| Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder | Q34092150 | ||
| Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). | Q34393436 | ||
| Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. | Q34569800 | ||
| PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). | Q35755781 | ||
| Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. | Q35856772 | ||
| Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. | Q36158232 | ||
| Characterization of PKD protein-positive exosome-like vesicles | Q37086680 | ||
| Autosomal dominant polycystic kidney disease in the fetus. | Q40696201 | ||
| 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 | ||
| Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease | Q42927109 | ||
| Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts | Q43073308 | ||
| Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin | Q43244326 | ||
| Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation | Q46477829 | ||
| The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. | Q48056738 | ||
| Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease | Q63434611 | ||
| A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees | Q63434619 | ||
| Polycystic kidney disease in the fetus | Q69372260 | ||
| Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe | Q69883486 | ||
| The spectrum of autosomal dominant polycystic kidney disease in children | Q72016398 | ||
| Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease | Q73638895 | ||
| Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes | Q78167116 | ||
| Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver | Q80495190 | ||
| Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease | Q80507407 | ||
| P433 | issue | 7 | |
| P304 | page(s) | 1097-1102 | |
| P577 | publication date | 2010-06-17 | |
| P1433 | published in | Journal of the American Society of Nephrology | Q17123893 |
| P1476 | title | Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. | |
| P478 | volume | 21 |
| Q36319999 | A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population |
| Q33926310 | A missense mutation in PKD1 attenuates the severity of renal disease |
| 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 |
| Q95413886 | Affected parent sex and severity of autosomal dominant polycystic kidney disease: a retrospective cohort study |
| Q34621895 | Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele. |
| Q34086721 | Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects |
| Q34467747 | Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. |
| Q101476546 | Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease |
| Q46460214 | Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease |
| Q55601184 | Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report. |
| Q35894689 | Characteristics of renal cystic and solid lesions based on contrast-enhanced computed tomography of potential kidney donors |
| 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 |
| Q89338529 | Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies |
| Q63434582 | Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease |
| Q36780455 | Current insights into renal ciliopathies: what can genetics teach us? |
| Q86296609 | Cyst expansion and regression in a mouse model of polycystic kidney disease |
| Q90261035 | Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients |
| Q39650947 | Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys |
| Q39514878 | Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). |
| Q35917458 | Dose-dependent effects of sirolimus on mTOR signaling and polycystic kidney disease |
| Q53091941 | Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. |
| 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 |
| Q33872509 | Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease |
| Q40890886 | Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel |
| Q38255110 | Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. |
| Q38219509 | Hereditary polycystic kidney disease: genetic diagnosis and counseling |
| Q35790549 | Identification of Biomarkers for PKD1 Using Urinary Exosomes |
| Q91997317 | Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD |
| 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 |
| Q36426096 | MicroRNAs regulate renal tubule maturation through modulation of Pkd1. |
| Q35578646 | Molecular pathways and therapies in autosomal-dominant polycystic kidney disease |
| Q34228262 | Mutations in multiple PKD genes may explain early and severe polycystic kidney disease |
| Q44009665 | Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease |
| Q48260423 | Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease. |
| Q94519328 | Polycystic kidney disease |
| Q27012746 | Polycystic kidney disease - where gene dosage counts |
| Q26826955 | Polycystin-1: a master regulator of intersecting cystic pathways |
| 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 |
| Q42368363 | Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics |
| Q36877524 | Simple Renal Cysts as Markers of Thoracic Aortic Disease |
| Q90451238 | Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease |
| Q26863397 | Spanish guidelines for the management of autosomal dominant polycystic kidney disease |
| Q36003176 | The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees |
| Q42366110 | Third-hit signaling in renal cyst formation |
| Q50048323 | Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations |
| Q37723395 | Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease. |
| Q38241290 | Translational research in ADPKD: lessons from animal models |
| Q36880400 | Type of PKD1 mutation influences renal outcome in ADPKD. |
| 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 |
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