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 NCBI Filters

Results by year

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

Year Number of Results
2000 1
2002 1
2007 1
2009 1
2014 1
2015 1
2017 1
2018 2
2019 2
2020 3
2021 1
2022 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.
Rossanti R, Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kondo A, Nagai S, Okada E, Ishimori S, Nagase H, Matsui S, Tamagaki K, Ubara Y, Nagahama M, Shima Y, Nakanishi K, Ninchoji T, Matsuo M, Iijima K, Nozu K. Rossanti R, et al. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 Free PMC article.
METHODS: We conducted in silico splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength and disruption of the sites. Furthermore, we performed in vitro splicing assays using minigene constructs and mRNA analysis of patient samples …
METHODS: We conducted in silico splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength an …
Thin Basement Membrane: An Underrated Cause of End-Stage Renal Disease.
Uzzo M, Moroni G, Ponticelli C. Uzzo M, et al. Nephron. 2023;147(7):383-391. doi: 10.1159/000528243. Epub 2023 Mar 7. Nephron. 2023. PMID: 36882005 Free article. Review.
Patients with TBM usually show an isolated hematuria with excellent renal prognosis. However, some patients can develop proteinuria and progressive kidney dysfunction in the long term. ...New efforts are needed to understand the determinants of renal prognosis and r …
Patients with TBM usually show an isolated hematuria with excellent renal prognosis. However, some patients can develop proteinuria a …
Alport syndrome and thin basement membrane nephropathy.
Thorner PS. Thorner PS. Nephron Clin Pract. 2007;106(2):c82-8. doi: 10.1159/000101802. Epub 2007 Jun 6. Nephron Clin Pract. 2007. PMID: 17570934 Review.
Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical course and GBM ultrastructural changes can sometimes mimic TBMN, more often it tends to be more progressive than usually seen in TBMN. ...
Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical co …
Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
Mastrangelo A, Madeira C, Castorina P, Giani M, Montini G. Mastrangelo A, et al. Nephrol Dial Transplant. 2022 Nov 23;37(12):2398-2407. doi: 10.1093/ndt/gfab334. Nephrol Dial Transplant. 2022. PMID: 35090027
Seventeen patients (32%) underwent kidney biopsy: findings were consistent with Alport syndrome in 12 cases and with thin basement membrane nephropathy in 5 cases. CONCLUSIONS: Despite the benign course for these patients described in the literature, a significant percenta …
Seventeen patients (32%) underwent kidney biopsy: findings were consistent with Alport syndrome in 12 cases and with thin basement membrane …
Autosomal dominant Alport syndrome due to a COL4A4 mutation with an additional ESPN variant detected by whole-exome analysis.
Izumi Y, Hamaguchi A, Miura R, Nakagawa T, Nakagawa M, Saida K, Miyake N, Nagayoshi Y, Kakizoe Y, Miyoshi T, Kohda Y, Misumi Y, Matsumoto N, Ando Y, Mukoyama M. Izumi Y, et al. CEN Case Rep. 2020 Feb;9(1):59-64. doi: 10.1007/s13730-019-00429-w. Epub 2019 Nov 1. CEN Case Rep. 2020. PMID: 31677115 Free PMC article.
Although the pathophysiological significance of this novel missense variant needs to be clarified, computational analysis predicted that the variant creates a new phosphorylation site for protein kinase C. ...
Although the pathophysiological significance of this novel missense variant needs to be clarified, computational analysis predicted t …
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.
Guo L, Li D, Dong S, Wan D, Yang B, Huang Y. Guo L, et al. J Genet. 2017 Jun;96(2):389-392. doi: 10.1007/s12041-017-0786-7. J Genet. 2017. PMID: 28674241 Free article.
Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS....
Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic cou …
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Marcocci E, et al. Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7. Nephrol Dial Transplant. 2009. PMID: 19129241 Free article.
Altogether, these data make difficult the differential diagnosis with the benign familial haematuria due to heterozygous mutations of COL4A4 and COL4A3, especially in young patients, and with the X-linked form of Alport syndrome in families where only females are affected. A corr …
Altogether, these data make difficult the differential diagnosis with the benign familial haematuria due to heterozygous mutations of COL4A4 …
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome.
Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Rossanti R, Nakanishi K, Shima Y, Morisada N, Iijima K, Nozu K. Horinouchi T, et al. Kidney360. 2020 Jul 16;1(9):936-942. doi: 10.34067/KID.0000372019. eCollection 2020 Sep 24. Kidney360. 2020. PMID: 35369551 Free PMC article.
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutations in COL4A3 or COL4A4, but the prognostic predictors for this disorder are not yet fully understood. ...Although heterozygous …
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and compound heterozygous mutatio …
How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.
Imafuku A, Nozu K, Sawa N, Nakanishi K, Ubara Y. Imafuku A, et al. Clin Exp Nephrol. 2020 Aug;24(8):651-656. doi: 10.1007/s10157-020-01880-1. Epub 2020 Mar 30. Clin Exp Nephrol. 2020. PMID: 32232700 Free PMC article. Review.
Although TBMN is characterized by hematuria and thinning of the glomerular basement membrane (GBM) with excellent renal prognosis, some patients develop end-stage renal disease (ESRD) later in life. ...
Although TBMN is characterized by hematuria and thinning of the glomerular basement membrane (GBM) with excellent renal prognosis, so …
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ. van der Loop FT, et al. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.
RESULTS: In the AD-AS family, a splice site mutation resulting in skipping of exon 21 of the COL4A3 gene was detected. The mutation does not alter the reading frame and is predicted to result in a COL4A3 chain with an internal deletion. CONCLUSION: As the NC domain is inta …
RESULTS: In the AD-AS family, a splice site mutation resulting in skipping of exon 21 of the COL4A3 gene was detected. The mutation does not …
16 results