Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
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Title
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 109, Issue 1, Pages 136-156
Publisher
Elsevier BV
Online
2021-12-09
DOI
10.1016/j.ajhg.2021.11.016
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Note: Only part of the references are listed.- The genetic landscape of polycystic kidney disease in Ireland
- (2021) Katherine A. Benson et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
- (2021) Amali C. Mallawaarachchi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
- (2021) Daniel Taliun et al. NATURE
- Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family
- (2021) Esra Arslan Ateş et al. Molecular Syndromology
- The structural basis of intraflagellar transport at a glance
- (2021) Mareike A. Jordan et al. JOURNAL OF CELL SCIENCE
- Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
- (2021) Elisa Delbarba et al. JOURNAL OF NEPHROLOGY
- Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD)
- (2021) Ronald D. Perrone et al. KIDNEY INTERNATIONAL
- Rare variant contribution to human disease in 281,104 UK Biobank exomes
- (2021) Quanli Wang et al. NATURE
- Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
- (2020) Ria Schönauer et al. GENETICS IN MEDICINE
- Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
- (2020) Vinh T. Huynh et al. KIDNEY INTERNATIONAL
- Regulation of polycystin expression, maturation and trafficking
- (2020) Jinghua Hu et al. CELLULAR SIGNALLING
- The value of genotypic and imaging information to predict functional and structural outcomes in ADPKD
- (2020) Sravanthi Lavu et al. JCI Insight
- DNAJB11-Related Atypical ADPKD in a Kidney Transplant Donor
- (2020) Gregory J. Wilson et al. Kidney International Reports
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- (2020) Cristopher V. Van Hout et al. NATURE
- Variable Expressivity of HNF1B-Nephropathy From Renal Cysts and Diabetes to Medullary Sponge Kidney through Tubulo-Interstitial Kidney Disease.
- (2020) Claudia IZZI et al. Kidney International Reports
- Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia
- (2020) Penelope Jordan et al. KIDNEY INTERNATIONAL
- A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia
- (2019) Tyler Picariello et al. JOURNAL OF CELL SCIENCE
- Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
- (2019) Gabrielle Wheway et al. Frontiers in Genetics
- Autosomal dominant polycystic kidney disease
- (2019) Emilie Cornec-Le Gall et al. LANCET
- Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease
- (2019) Emilie Legué et al. CURRENT BIOLOGY
- Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease
- (2019) Irina M. Sanchis et al. Clinical Journal of the American Society of Nephrology
- Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
- (2019) Rory J. Olson et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- ALG9 Mutation Carriers Develop Kidney and Liver Cysts
- (2019) Whitney Besse et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Autosomal dominant tubulointerstitial kidney disease
- (2019) Olivier Devuyst et al. Nature Reviews Disease Primers
- Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease
- (2019) Katharina Hopp et al. KIDNEY INTERNATIONAL
- Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model
- (2019) Rebecca V. Walker et al. Nature Communications
- Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County
- (2019) Tatsuya Suwabe et al. Clinical Journal of the American Society of Nephrology
- Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
- (2018) Emilie Cornec-Le Gall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations
- (2018) Emilie Cornec-Le Gall et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts
- (2018) Ashima Gulati et al. ANNALS OF INTERNAL MEDICINE
- The molecular machines that traffic signaling receptors into and out of cilia
- (2018) Maxence V Nachury CURRENT OPINION IN CELL BIOLOGY
- A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family
- (2018) Whitney Besse et al. HUMAN MUTATION
- Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
- (2018) Adrian Y. Tan et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Intraflagellar Transport Complex A Genes Differentially Regulate Cilium Formation and Transition Zone Gating
- (2018) Noémie Scheidel et al. CURRENT BIOLOGY
- Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease
- (2018) Esther Meijer et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Polycystic kidney disease
- (2018) Carsten Bergmann et al. Nature Reviews Disease Primers
- Isolated polycystic liver disease genes define effectors of polycystin-1 function
- (2017) Whitney Besse et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases
- (2017) Emilie Cornec-Le Gall et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein–coupled receptors
- (2017) Tomoaki Hirano et al. MOLECULAR BIOLOGY OF THE CELL
- Genes and molecular pathways underpinning ciliopathies
- (2017) Jeremy F. Reiter et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease
- (2017) Ming Ma et al. Cold Spring Harbor Perspectives in Biology
- Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
- (2016) Binu Porath et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease
- (2016) C. M. Heyer et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- An estimated glomerular filtration rate equation for the full age spectrum
- (2016) Hans Pottel et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Ciliopathies
- (2016) Daniela A. Braun et al. Cold Spring Harbor Perspectives in Biology
- Liver Involvement in Early Autosomal-Dominant Polycystic Kidney Disease
- (2015) Marie C. Hogan et al. Clinical Gastroenterology and Hepatology
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Mutations in human IFT140 cause non-syndromic retinal degeneration
- (2015) Mingchu Xu et al. HUMAN GENETICS
- Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner
- (2015) Vladimir G. Gainullin et al. JOURNAL OF CLINICAL INVESTIGATION
- Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease
- (2015) M.-P. Audrezet et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease
- (2015) E. Cornec-Le Gall et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
- (2015) Cathie Sudlow et al. PLOS MEDICINE
- Imaging Classification of Autosomal Dominant Polycystic Kidney Disease: A Simple Model for Selecting Patients for Clinical Trials
- (2014) M. V. Irazabal et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Imaging-Based Diagnosis of Autosomal Dominant Polycystic Kidney Disease
- (2014) Y. Pei et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease
- (2014) Robert W. Schrier et al. NEW ENGLAND JOURNAL OF MEDICINE
- Angiotensin Blockade in Late Autosomal Dominant Polycystic Kidney Disease
- (2014) Vicente E. Torres et al. NEW ENGLAND JOURNAL OF MEDICINE
- A New Equation to Estimate Glomerular Filtration Rate
- (2013) Andrew S. Levey et al. ANNALS OF INTERNAL MEDICINE
- Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease
- (2013) Miriam Schmidts et al. HUMAN MUTATION
- Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease
- (2013) Ming Ma et al. NATURE GENETICS
- Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
- (2012) Isabelle Perrault et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
- (2012) Katharina Hopp et al. JOURNAL OF CLINICAL INVESTIGATION
- Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation
- (2012) J. A. Jonassen et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy
- (2011) M Losekoot et al. JOURNAL OF MEDICAL GENETICS
- Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
- (2011) C. Bergmann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease
- (2011) Meral Gunay-Aygun et al. MOLECULAR GENETICS AND METABOLISM
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- (2011) Francesc R Garcia-Gonzalo et al. NATURE GENETICS
- A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
- (2011) Sorin V Fedeles et al. NATURE GENETICS
- Ciliopathies
- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
- (2010) M. Vujic et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
- (2009) Sandro Rossetti et al. KIDNEY INTERNATIONAL
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History
- (2008) Berenice Reed et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Unified Criteria for Ultrasonographic Diagnosis of ADPKD
- (2008) Y. Pei et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
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