A review of clinical characteristics and genetic backgrounds in Alport syndrome. (Q64992381)

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A review of clinical characteristics and genetic backgrounds in Alport syndrome (English)

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Kandai Nozu

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Yoshifusa Abe

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Tomohiro Udagawa

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Shinichi Okada

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Hiroshi Kaito

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Katsuyoshi Kanemoto

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Anna Kobayashi

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Eriko Tanaka

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Kazuki Tanaka

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Taketsugu Hama

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Rika Fujimaru

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Saori Miwa

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Tomohiko Yamamura

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Natsusmi Yamamura

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Tomoko Horinouchi

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Michio Nagata

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20 August 2018

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Clinical and experimental nephrology

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1 February 2019

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Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis

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Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene

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Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling

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Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

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Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.

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Cyclosporine A treatment in patients with Alport syndrome: a single-center experience

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Genotype-phenotype correlation in X-linked Alport syndrome

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Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

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Efficacy and safety of losartan in children with Alport syndrome--results from a subgroup analysis of a prospective, randomized, placebo- or amlodipine-controlled trial

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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

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Losartan and enalapril are comparable in reducing proteinuria in children with Alport syndrome

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X-linked Alport syndrome caused by splicing mutations in COL4A5

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X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene

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Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome

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Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

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Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome

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Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

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Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

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Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

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10.1007/S10157-018-1629-4

Identifiers

DOI

1 reference

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19 April 2020

PubMed publication ID

30128941

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