Cargando…

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis

Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high‐grade proteinuria and end‐stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Yuan, Hu, Pengzhi, Xu, Hongbo, Yuan, Jinzhong, Yuan, Lamei, Xiong, Wei, Deng, Xiong, Deng, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134383/ https://www.ncbi.nlm.nih.gov/pubmed/27469977 http://dx.doi.org/10.1111/jcmm.12924

Ejemplares similares

Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis
por: Braunisch, Matthias C., et al.
Publicado: (2018)

Response to COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis
por: Gbadegesin, Rasheed A
Publicado: (2015)

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
por: Deng, Sheng, et al.
Publicado: (2016)

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)
por: Zhu, Feng, et al.
Publicado: (2019)

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease
por: Fan, Liang‐Liang, et al.
Publicado: (2020)

Identification of COL4A4 variants in Chinese patients with familial hematuria
por: Gao, Yanan, et al.
Publicado: (2023)

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
por: Malone, Andrew F, et al.
Publicado: (2014)

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors
por: Wu, Yuan, et al.
Publicado: (2019)

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
por: Xiu, Xiaofei, et al.
Publicado: (2014)

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
por: Huang, Xiangjun, et al.
Publicado: (2015)

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease
por: Wu, Yuan, et al.
Publicado: (2018)

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
por: Hu, Pengzhi, et al.
Publicado: (2017)

NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation
por: Sun, Liping, et al.
Publicado: (2021)

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia
por: Xiong, Ying, et al.
Publicado: (2021)

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
por: Deng, Haiyue, et al.
Publicado: (2022)

Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis
por: Frese, Jenny, et al.
Publicado: (2019)

Genetics of focal segmental glomerulosclerosis
por: Woroniecki, Robert P., et al.
Publicado: (2007)

Pathophysiology of focal segmental glomerulosclerosis
por: Reidy, Kimberly, et al.
Publicado: (2007)

Pathogenesis of Focal Segmental Glomerulosclerosis
por: Lim, Beom Jin, et al.
Publicado: (2016)

Unwinding focal segmental glomerulosclerosis
por: Peev, Vasil, et al.
Publicado: (2017)

Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy
por: Xiang, Qin, et al.
Publicado: (2019)

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis
por: Liu, Yu-Xing, et al.
Publicado: (2021)

An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus
por: Li, Ling, et al.
Publicado: (2023)

Secondary Focal Segmental Glomerulosclerosis: From Podocyte Injury to Glomerulosclerosis
por: Kim, Jae Seok, et al.
Publicado: (2016)

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
por: Deng, Hao, et al.
Publicado: (2016)

Actinic Granuloma with Focal Segmental Glomerulosclerosis
por: Phasukthaworn, Ruedee, et al.
Publicado: (2016)

Alendronate-associated focal segmental glomerulosclerosis
por: Prikis, Marios, et al.
Publicado: (2009)

Interferon Induced Focal Segmental Glomerulosclerosis
por: Kayar, Yusuf, et al.
Publicado: (2016)

Focal Segmental Glomerulosclerosis in Waldenström's Macroglobulinemia
por: Batra, Akshee, et al.
Publicado: (2020)

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing
por: Papazachariou, Louiza, et al.
Publicado: (2014)

Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B
por: Hibino, Satoshi, et al.
Publicado: (2020)

313 Homozygous High-Risk APOL1 Variant and Heterozygous COL4A4 Mutation in an African American Patient With Collapsing Focal Segmental Glomerulonephritis
Publicado: (2021)

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder
por: Yuan, Lamei, et al.
Publicado: (2023)

NPHS2 variation in focal and segmental glomerulosclerosis
por: Tonna, Stephen J, et al.
Publicado: (2008)

The Novel Diagnostic Biomarkers for Focal Segmental Glomerulosclerosis
por: Nafar, Mohsen, et al.
Publicado: (2014)

Multiple myeloma presenting with focal segmental glomerulosclerosis
por: Valizadeh, Nasim, et al.
Publicado: (2013)

Infection-Related Focal Segmental Glomerulosclerosis in Children
por: Dettmar, Anne Katrin, et al.
Publicado: (2016)

Complement Activation in Patients with Focal Segmental Glomerulosclerosis
por: Thurman, Joshua M., et al.
Publicado: (2015)

Focal Segmental Glomerulosclerosis: Genetics, Mechanism, and Therapies
por: Kronbichler, Andreas, et al.
Publicado: (2016)

Cytomegalovirus-induced collapsing focal segmental glomerulosclerosis
por: Grover, Vanya, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_2aimp17ahp8gm3dl39gfsm9uao