Cargando…

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

BACKGROUND AND OBJECTIVES: The evident genotype–phenotype correlation shown by the X-linked Alport syndrome warrants the assessment of the impact of identified gene variants on aberrant splicing. We previously reported that single nucleotide variants (SNVs) in the last nucleotide of exons in COL4A5...

Descripción completa

Detalles Bibliográficos
Autores principales:	Okada, Eri, Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Ichikawa, Yuta, Tanaka, Yu, Ueda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Suzuki, Ryota, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Nozu, Kandai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Nature Singapore 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950164/ https://www.ncbi.nlm.nih.gov/pubmed/36371577 http://dx.doi.org/10.1007/s10157-022-02294-x

Ejemplares similares

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing
por: Aoto, Yuya, et al.
Publicado: (2021)

All reported non-canonical splice site variants in GLA cause aberrant splicing
por: Okada, Eri, et al.
Publicado: (2023)

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
por: Yamamura, Tomohiko, et al.
Publicado: (2022)

Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants
por: Nagano, China, et al.
Publicado: (2021)

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
por: Horinouchi, Tomoko, et al.
Publicado: (2019)

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria
por: Nagano, China, et al.
Publicado: (2020)

Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
por: Inoue, Tomohiko, et al.
Publicado: (2021)

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
por: Inoue, Tomohiko, et al.
Publicado: (2020)

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
por: Horinouchi, Tomoko, et al.
Publicado: (2020)

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
por: Yamamura, Tomohiko, et al.
Publicado: (2020)

Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY
por: Nozu, Kandai, et al.
Publicado: (2014)

Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease
por: Okada, Eri, et al.
Publicado: (2022)

Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.
por: Okada, Eri, et al.
Publicado: (2023)

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
por: Suzuki, Ryota, et al.
Publicado: (2023)

An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome
por: Horinouchi, Tomoko, et al.
Publicado: (2022)

Steroid resistant nephrotic syndrome with collapsing focal segmental glomerulosclerosis in a 12-year-old Japanese female after SARS-CoV-2 vaccination
por: Horinouchi, Tomoko, et al.
Publicado: (2023)

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
por: Kamura, Misato, et al.
Publicado: (2020)

A birth of bipartite exon by intragenic deletion
por: Nozu, Kandai, et al.
Publicado: (2017)

Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome
por: Nozu, Kandai, et al.
Publicado: (2020)

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
por: Yamamura, Tomohiko, et al.
Publicado: (2019)

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
por: Ishiko, Shinya, et al.
Publicado: (2021)

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome
por: Tsuji, Yurika, et al.
Publicado: (2021)

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
por: Kondo, Atsushi, et al.
Publicado: (2021)

Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation
por: Hashikami, Kentarou, et al.
Publicado: (2018)

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
por: Fujimura, Junya, et al.
Publicado: (2018)

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases
por: Minamikawa, Shogo, et al.
Publicado: (2018)

Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases
por: Ishiko, Shinya, et al.
Publicado: (2020)

Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study
por: Ishimori, Shingo, et al.
Publicado: (2022)

Rituximab Treatment for Nephrotic Syndrome in Children
por: Iijima, Kazumoto, et al.
Publicado: (2014)

Rituximab for nephrotic syndrome in children
por: Iijima, Kazumoto, et al.
Publicado: (2016)

Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry
por: Nakanishi, Keita, et al.
Publicado: (2018)

iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
por: Hirayama, Ryuichiro, et al.
Publicado: (2023)

Yersinia pseudotuberculosis infection in Kawasaki disease and its clinical characteristics
por: Horinouchi, Tomoko, et al.
Publicado: (2015)

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
por: Wu, Jing, et al.
Publicado: (2021)

Rituximab in steroid-sensitive nephrotic syndrome: lessons from clinical trials
por: Iijima, Kazumoto, et al.
Publicado: (2017)

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
por: Yamamura, Tomohiko, et al.
Publicado: (2017)

Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-controlled trial (JSKDC07)
por: Horinouchi, Tomoko, et al.
Publicado: (2018)

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
por: Abe, Yoshifusa, et al.
Publicado: (2016)

The precise long-term outcomes of adult IgA nephropathy by mail questionnaires: Better renal survival compared to earlier cohort studies
por: Imai, Eri, et al.
Publicado: (2020)

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists
por: Imafuku, Aya, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_b3o185a2m6g9473medm7o052fh