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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study. ...Clinical, genetic, laboratory, and pathology data were collected. OBSERV …
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport s …
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 …
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
BACKGROUND: Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport syndrome and thin basement membrane nephropathy, without a shared definition of these patients within the medical community. ...During th …
BACKGROUND: Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport s …
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y, Katayama K, Mori M, Matsuo H, Fujimoto M, Joh K, Murata T, Ito M, Dohi K. Hirabayashi Y, et al. Genes (Basel). 2022 Oct 2;13(10):1779. doi: 10.3390/genes13101779. Genes (Basel). 2022. PMID: 36292665 Free PMC article.
Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membrane on kidney biopsy specimens. Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glo …
Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membra …
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.
Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutations in COL4A3 and COL4A4 genes were …
Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary baseme …
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 …
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.
This spectrum includes asymptomatic carriers of ARAS, benign familial hematuria, thin basement membrane disease, and autosomal dominant Alport syndrome. METHODS: We retrospectively analyzed 49 patients with ARAS from 41 families with a median age of 19 …
This spectrum includes asymptomatic carriers of ARAS, benign familial hematuria, thin basement membrane disease, and autosomal dom …
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.
Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Brok-Simoni F, Pras E, Rechavi G. Toren A, et al. Am J Hum Genet. 1999 Dec;65(6):1711-7. doi: 10.1086/302654. Am J Hum Genet. 1999. PMID: 10577925 Free PMC article.
We have mapped the disease-causing gene to the long arm of chromosome 22 in an extended Israeli family with Fechtner syndrome plus impaired liver functions and hypercholesterolemia in some individuals. Six markers from chromosome 22q yielded a LOD score >3.00. A maximum …
We have mapped the disease-causing gene to the long arm of chromosome 22 in an extended Israeli family with Fechtner syndrome plus impaired …
Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population.
Rosado C, Bueno E, Felipe C, Valverde S, González-Sarmiento R. Rosado C, et al. Kidney Blood Press Res. 2015;40(4):435-42. doi: 10.1159/000368519. Epub 2015 Jul 31. Kidney Blood Press Res. 2015. PMID: 26277931 Free article.
BACKGROUND/AIMS: Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it s …
BACKGROUND/AIMS: Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity pres …
Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP. Jefferson JA, et al. Nephrol Dial Transplant. 1997 Aug;12(8):1595-9. doi: 10.1093/ndt/12.8.1595. Nephrol Dial Transplant. 1997. PMID: 9269635
Familial benign haematuria has also been mapped to this region in some families. SUBJECTS AND METHODS: We describe a large family with autosomal dominant Alport syndrome in which males and females are equally severely affected and one member with a mil …
Familial benign haematuria has also been mapped to this region in some families. SUBJECTS AND METHODS: We describe a large family with au …
17 results