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Page 1
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
This form of digenic disease results in increased proteinuria and a median age of kidney failure intermediate between autosomal dominant and autosomal recessive Alport syndrome. Previous guidelines have suggested that all pathogenic or likely pathogeni …
This form of digenic disease results in increased proteinuria and a median age of kidney failure intermediate between autosomal dominant and …
Familial hematuria: A review.
Plevová P, Gut J, Janda J. Plevová P, et al. Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002. Epub 2017 Jan 31. Medicina (Kaunas). 2017. PMID: 28236514 Free article. Review.
In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men. Deleterious COL4A5 mutations are associated with a more severe renal phenotype and more frequent high-frequency sensorineural hearing loss and ocular abnormalities. ...Isolate …
In X-linked Alport syndrome, a clear genotype-phenotype correlation is typically observed in men. Deleterious COL4A5 mutations are as …
COL4A6 is dispensable for autosomal recessive Alport syndrome.
Murata T, Katayama K, Oohashi T, Jahnukainen T, Yonezawa T, Sado Y, Ishikawa E, Nomura S, Tryggvason K, Ito M. Murata T, et al. Sci Rep. 2016 Jul 5;6:29450. doi: 10.1038/srep29450. Sci Rep. 2016. PMID: 27377778 Free PMC article.
We therefore generated mice lacking both alpha3 and alpha6 (IV) chains and compared their renal function and survival with Col4a3 knockout mice of 129 1/Sv background. No significant difference was observed in the renal function or survival of the two groups, or when the m …
We therefore generated mice lacking both alpha3 and alpha6 (IV) chains and compared their renal function and survival with Col4a3 knockout m …
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J. Wang Y, et al. Pediatr Nephrol. 2014 Mar;29(3):391-6. doi: 10.1007/s00467-013-2643-0. Epub 2013 Nov 2. Pediatr Nephrol. 2014. PMID: 24178893
METHODS: All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examination at a single centre. RESULTS: Patients comprised 9 males and 6 females with autosomal recessive Alport syndrome …
METHODS: All patients had the diagnosis of Alport syndrome and the mode of inheritance confirmed by genetic testing, and underwent examinati …
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M. Savige J, et al. PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016. PLoS One. 2016. PMID: 27627812 Free PMC article.
For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non-missense variants (p = 0.08, and p = 0.01 respectively). Thus DNA variant characteristics that predict age at renal failure appeared to be the same for all three Alport genes. ...
For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non-missense variants (p = 0.08, and p = 0.01 respectively). …
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs.
Lees GE, Helman RG, Kashtan CE, Michael AF, Homco LD, Millichamp NJ, Ninomiya Y, Sado Y, Naito I, Kim Y. Lees GE, et al. Kidney Int. 1998 Sep;54(3):706-19. doi: 10.1046/j.1523-1755.1998.00062.x. Kidney Int. 1998. PMID: 9734596 Free article.
Glomerular basement membrane (GBM) thickening and multilamellation typical of HN were observed in all renal specimens obtained from proteinuric dogs, and severity of GBM ultrastructural abnormalities varied with the clinical stage of disease. ...CONCLUSIONS: We conclude th …
Glomerular basement membrane (GBM) thickening and multilamellation typical of HN were observed in all renal specimens obtained from p …
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. ... …
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is an inherited renal disorder caused by homozygous and c …
Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome.
Zhou J, Wu J, Yin Q, Yu X, Cui Y, Yang H, Shentu X. Zhou J, et al. Ophthalmic Genet. 2021 Apr;42(2):132-138. doi: 10.1080/13816810.2020.1852575. Epub 2020 Nov 29. Ophthalmic Genet. 2021. PMID: 33251924
Background: To first report and study the ultrastructural and immunofluorescence abnormalities of the lens anterior capsules in a patient with autosomal recessive Alport syndrome.Methods: Two anterior lens capsules were collected in femtosecond laser-a …
Background: To first report and study the ultrastructural and immunofluorescence abnormalities of the lens anterior capsules in a patient wi …
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.
Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Gubler MC, et al. Kidney Int. 1995 Apr;47(4):1142-7. doi: 10.1038/ki.1995.163. Kidney Int. 1995. PMID: 7783412 Free article.
A peculiar pattern of distribution of the alpha 3-alpha 5(IV) chains was observed in the other patients. It was characterized the co-absence of the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains in the glomerular basement membrane, and the presence of the alpha 5(IV) chai …
A peculiar pattern of distribution of the alpha 3-alpha 5(IV) chains was observed in the other patients. It was characterized the co- …
18 results