Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 5
2021 31
2022 29
2023 38
2024 26

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

111 results

Results by year

Filters applied: . Clear all
Page 1
Cilia and polycystic kidney disease.
Ma M. Ma M. Semin Cell Dev Biol. 2021 Feb;110:139-148. doi: 10.1016/j.semcdb.2020.05.003. Epub 2020 May 28. Semin Cell Dev Biol. 2021. PMID: 32475690 Review.
ADPKD is caused by mutations in PKD1 encoding polycystin1 (PC1) and PKD2 encoding polycystin 2 (PC2). PC1/2 are multi-pass transmembrane proteins that form a complex localized in the primary cilium. ...
ADPKD is caused by mutations in PKD1 encoding polycystin1 (PC1) and PKD2 encoding polycystin 2 (PC2). PC1/2 are multi-pass transmembr …
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y. Lanktree MB, et al. Clin J Am Soc Nephrol. 2021 May 8;16(5):790-799. doi: 10.2215/CJN.02320220. Epub 2020 Jul 20. Clin J Am Soc Nephrol. 2021. PMID: 32690722 Free PMC article. Review.
Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst formation is triggered by reduced functional polycystin dosage below a critical threshold within individual tubular epithelial cells due to (1 …
Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst fo …
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/300) of the genetically diagnosed patients. CONCLUSIONS: Two-thirds of patients with early-onset CKD in this cohort had a genetic cause. ...
Of the 64 causative genes identified in our cohort, 7 (COL4A3, COL4A4, COL4A5, HNF1B, PKD1, PKD2 and PKHD1) accounted for 66% (198/30 …
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H, Sieben CJ, Schauer RS, Harris PC. Yang H, et al. Adv Kidney Dis Health. 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. Adv Kidney Dis Health. 2023. PMID: 38097330 Free PMC article. Review.
There are two major ADPKD genes, PKD1 and PKD2, and seven minor loci. PKD1 accounts for 80% of patients and is associated with the most severe disease (KF is typically at 55-65 years); PKD2 accounts for 15% of families, with KF typically in the mid-70s. The minor ge …
There are two major ADPKD genes, PKD1 and PKD2, and seven minor loci. PKD1 accounts for 80% of patients and is associated with the mo …
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M, König E, Katsara MA, Kirsten H, Farahani SK, Teumer A, Li Y, Lang M, Göcmen B, Pattaro C, Günzel D, Köttgen A, Fuchsberger C. Wuttke M, et al. Nat Commun. 2023 Mar 9;14(1):1287. doi: 10.1038/s41467-023-36864-8. Nat Commun. 2023. PMID: 36890159 Free PMC article.
The imputation-powered findings derive support from clinical record-based kidney disease information, such as for a previously unreported splice allele in PKD2, and from functional studies of a previously unreported frameshift allele in CLDN10. ...
The imputation-powered findings derive support from clinical record-based kidney disease information, such as for a previously unreported sp …
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T. Chang AR, et al. JAMA. 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. JAMA. 2022. PMID: 36573973 Free PMC article.
EXPOSURES: Loss-of-function (LOF) variants in PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJB11, GANAB, HNF1B, IFT140, SEC61B, PKHD1, PRKCSH, SEC63); likely pathogenic missense variants in PKD1 and PKD2. ...In addition to PKD …
EXPOSURES: Loss-of-function (LOF) variants in PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJ …
Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel.
Bleyer AJ, Westemeyer M, Xie J, Bloom MS, Brossart K, Eckel JJ, Jones F, Molnar MZ, Kotzker W, Anand P, Kmoch S, Xue Y, Strom S, Punj S, Demko ZP, Tabriziani H, Billings PR, McKanna T. Bleyer AJ, et al. Am J Nephrol. 2022;53(4):297-306. doi: 10.1159/000522226. Epub 2022 Mar 24. Am J Nephrol. 2022. PMID: 35325889 Free PMC article.
Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4.1%) genes. Variants identified in the remaining 42 genes comprised 28.6% of the total positive findings, including single positive results …
Positive results occurred most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10.0%), COL4A4 (6.4%), COL4A3 (5.9%), and TTR (4 …
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
We initially performed a validation study, in which 42 ADPKD patients underwent sequencing of PKD1 and PKD2 by both whole-genome and Sanger sequencing, using a blinded, cross-over method. Whole-genome sequencing identified all PKD1 and PKD2 germline pathogenic varia …
We initially performed a validation study, in which 42 ADPKD patients underwent sequencing of PKD1 and PKD2 by both whole-genome and …
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (78% and 15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. ...Analysis of the UK Biobank cystic kidney disease group showed probands with IFT140 LoF variants as the third most common group, …
ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (78% and 15% of families) and GANAB, DNAJB11, and ALG9 are mino …
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Durkie M, Chong J, Valluru MK, Harris PC, Ong ACM. Durkie M, et al. Genet Med. 2021 Apr;23(4):689-697. doi: 10.1038/s41436-020-01026-4. Epub 2020 Nov 10. Genet Med. 2021. PMID: 33168999 Free PMC article.
Two patients underwent exome or genome sequencing. RESULTS: Likely causative PKD1 or PKD2 variants were detected in 30 infants with PKD-VEO, 16 of whom presented in utero. Twenty-one of 30 (70%) had two variants with biallelic in trans inheritance confirmed in 16/21, 1 inf …
Two patients underwent exome or genome sequencing. RESULTS: Likely causative PKD1 or PKD2 variants were detected in 30 infants with P …
111 results