Associated Papers
Genetic screening in kidney transplant candidates.
Le Moal P et al.
Clinical Kidney Journal, 2026
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.
Chen Q et al.
Renal Failure, 2025
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
IFT139 regulates Hedgehog signaling and cilia structure through ciliary protein localization.
Nishat K et al.
Biology Open, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.
Bartol-Puyal FA et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD et al.
Kidney International, 2024
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2022
Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.
Sambharia M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
The genetics of steroid-resistant nephrotic syndrome in children.
Dorval G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
The genetics of steroid-resistant nephrotic syndrome in adults.
Boyer O et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Retinal dystrophy as part of TTC21B-associated ciliopathy.
Ben-Yosef T et al.
Ophthalmic Genetics, 2021
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.
Strong A et al.
American Journal of Medical Genetics. Part A, 2021
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.
Bezdíčka M et al.
Frontiers in Pediatrics, 2021
Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review.
Gambino G et al.
Frontiers in Medicine, 2021
A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.
Abo El Fotoh WMM et al.
Journal of Pediatric Genetics, 2020
Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B.
Hibino S et al.
Internal Medicine (tokyo, Japan), 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
The complexity of the cilium: spatiotemporal diversity of an ancient organelle.
Heydeck W et al.
Current Opinion in Cell Biology, 2018
Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H et al.
Nephrology (carlton, Vic.), 2018
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Ryan R et al.
Human Molecular Genetics, 2018
Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.
Chen L et al.
Current Molecular Medicine, 2018
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Ars E et al.
Clinical Kidney Journal, 2017
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
Hereditary Podocytopathies in Adults: The Next Generation.
Boyer O et al.
Kidney Diseases (basel, Switzerland), 2017
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Stokman MF et al.
Nature Reviews. Nephrology, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K et al.
Nature Communications, 2016
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Huynh Cong E et al.
Journal of the American Society of Nephrology : Jasn, 2014
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011