Cargando…

Combination of a Novel Genetic Variant in CFB Gene and a Pathogenic Variant in COL4A5 Gene in a Sibling Renal Disease: A Case Report

Complement factor B (CFB) variants have been described to play a causative role in auto-immune associated C3 glomerulopathy (C3G) and/or atypical hemolytic uremic syndrome (aHUS) by affecting the dysregulations of alternative pathway activation. However, CFB variant concomitant with COL4A5 variant i...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Feng-mei, Yang, Yan, Zhang, Xiao-liang, Wang, Yan-li, Tu, Yan, Liu, Bi-Cheng, Wang, Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8326751/ https://www.ncbi.nlm.nih.gov/pubmed/34349783 http://dx.doi.org/10.3389/fgene.2021.690952

Ejemplares similares

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

Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia
por: Shu, Hong-Yan, et al.
Publicado: (2021)

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
por: Zhytnik, Lidiia, et al.
Publicado: (2019)

Association of CFH and CFB Gene Polymorphisms with Retinopathy in Type 2 Diabetic Patients
por: Wang, Jun, et al.
Publicado: (2013)

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
por: Hu, Kui, et al.
Publicado: (2022)

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
por: Ren, Xiao-Tun, et al.
Publicado: (2019)

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
por: Liang, Lei, et al.
Publicado: (2023)

Genetic and Functional Variants Analysis of the GATA6 Gene Promoter in Acute Myocardial Infarction
por: Sun, Zhaoqing, et al.
Publicado: (2019)

Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis
por: Pan, Siyu, et al.
Publicado: (2022)

Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+ Monocytes
por: Sun, Jing-yi, et al.
Publicado: (2018)

Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling
por: Ha, Dong Jun, et al.
Publicado: (2022)

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion
por: Cong, Yan, et al.
Publicado: (2022)

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease
por: Jafari Khamirani, Hossein, et al.
Publicado: (2022)

A novel non-sense variant in the OFD1 gene caused Joubert syndrome
por: Li, Chen, et al.
Publicado: (2023)

Genetic Variants and Functional Analyses of the ATG16L1 Gene Promoter in Acute Myocardial Infarction
por: Han, Falan, et al.
Publicado: (2021)

Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families
por: Wang, Sai, et al.
Publicado: (2022)

A Novel Potentially Pathogenic Rare Variant in the DNAJC7 Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China
por: Wang, Mengli, et al.
Publicado: (2020)

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
por: Vaclavik, Veronika, et al.
Publicado: (2022)

Pathogenic genetic variants identified in Australian families with paediatric cataract
por: Jones, Johanna L, et al.
Publicado: (2022)

Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
por: Kowsarnia, Saeedeh, et al.
Publicado: (2021)

Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants
por: Khandakji, Mohannad N., et al.
Publicado: (2022)

A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX
por: Zhu, Wenting, et al.
Publicado: (2021)

Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han
por: Zhang, Xiaoqing, et al.
Publicado: (2012)

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
por: Votsi, Christina, et al.
Publicado: (2022)

Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients
por: Li, Chong, et al.
Publicado: (2023)

Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy
por: Hu, Yan, et al.
Publicado: (2023)

Gene-wide significant association analyses of DNMT1 genetic variants with Parkinson’s disease
por: Wang, Jian-Yong, et al.
Publicado: (2023)

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
por: Zheng, Wen‐bin, et al.
Publicado: (2020)

Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex
por: Xu, Xiaojing, et al.
Publicado: (2021)

A Variant in the Nicotinic Acetylcholine Receptor Alpha 3 Subunit Gene Is Associated With Hypertension Risks in Hypogonadic Patients
por: Wu, Tao, et al.
Publicado: (2020)

Novel LAT Pathogenic Variants in a POI Family and Its Role in the Ovary
por: Chu, Kun, et al.
Publicado: (2021)

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X‐linked Alport syndrome
por: Zhang, Yanqin, et al.
Publicado: (2019)

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus
por: Karolak, Justyna A., et al.
Publicado: (2011)

A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings
por: Yang, Yeran, et al.
Publicado: (2021)

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay
por: Wang, Yanyun, et al.
Publicado: (2019)

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report
por: Ma, Jiehui, et al.
Publicado: (2022)

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
por: Yang, Cheng, et al.
Publicado: (2019)

Genetic Variants of Glycogen Metabolism Genes Were Associated With Liver PDFF Without Increasing NAFLD Risk
por: Yang, Liu, et al.
Publicado: (2022)

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome
por: Luo, Xi, et al.
Publicado: (2020)

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
por: Szczepanek-Parulska, Ewelina, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_808gmf7b0ndootk0cb5l49dkd4