Results 81 to 90 of about 4,380 (145)

Novel COL4A3–COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China

Alport syndrome is a hereditary glomerular disease driven by pathogenic variants in COL4A3–COL4A5 that compromise the α3–α4–α5 type IV collagen scaffold, manifesting as persistent hematuria, proteinuria, and ultimately end-stage renal disease.
Xue-Mei Jiang, Ji-Yu Chen, Mi-feng Yang, Yan-Hua Zhang, Hong-Ye Wang, Jing Wang, Ya-Bin Liao, Bo Zhao, Jing-Jing Cui, Jia Zhang   +9 more
core   +1 more source

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene

, 1996
The COL4A5 gene encodes the alpha 5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients.
RENIERI A., NERI T., Banfi G, Massella L, De Marchi, Mario, Zanelli P, L. Galli, F. Scolari, GALLI L., A. Sessa, Galli L, MASSELLA L., TURCO, Alberto, SESSA A., De Marchi M., SCOLARI, Francesco, T. Neri, PIGNATTI, Pierfranco, PIGNATTI P. F, BANFI G., TRYGGVASON K., P. Zanelli, GUSMANO R., L. Massella, RIZZONI G., Sessa A, ROSSETTI S., S. Rossetti, Savi M, BRUTTINI M., SCOLARI F, PIGNATTI P. F., M. Savi, J. Zhou, Pignatti PF, Renieri A, NERI, Tauro Maria, Heiskari N, BALLABIO, ANDREA, A. Renieri, M. De Marchi, N. Heiskari, Turco A, SAVI, Mario, Neri T, Ballabio A, K. Tryggvason, Zhou J, A. Ballabio, SCOLARI F., BALLABIO A., M. Bruttini, Rizzoni G, G. Banfi, TURCO A., HEISKARI N., Rossetti S, SAVI M., ZANELLI P., R. Gusmano, G. Rizzoni, Gusmano R, Bruttini M, ZHOU J., Tryggvason K   +64 more
core  

Considering Heterozygous Variants in COL4A3, COL4A4, COL4A5: Genetic Features and Clinical Outcomes. [PDF]

Kidney360
Besse W, Ma D.
europepmc   +1 more source

Identification and pathogenicity analysis of a novel intronic <i>COL4A5</i> variant in a Chinese family. [PDF]

Front Med (Lausanne)
Qian P, Huang HM, Suo L, Li Z, Zhang M, Bao Y.   +5 more
europepmc   +1 more source

Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review. [PDF]

Front Pediatr
Gong Y, Guo H, Yang Z.
europepmc   +1 more source

Original Article Detection of COL4A5 gene mutations in Chinese patients with Alport’s syndrome

, 2004
Background. Mutations in the COL4A5 gene, encod-ing the 5 chain of type IV collagen, are responsible for X-linked Alport’s syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with ...
Xiaonong Chen, Xiaoxia Pan, Hong Ren, Nan Chen, Jingyin Yan, Haijin Yu, Cuilan Hao, Hao Shi, Wen Zhang, Chaohui Wang   +9 more
core  

Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome. [PDF]

Front Genet
Gao J, Zhou H, Zhang L, Su Z, Liu S.
europepmc   +1 more source

A Novel <i>Col4a5</i>-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating <i>COL4A5</i> Mutations in X-Linked Alport Syndrome. [PDF]

Genes (Basel)
Lin Y, Sun L, Li M, Kuang X, Gong X, Cai Q, Chen Y, Xu M, Huang W, Zeng F.   +9 more
europepmc   +1 more source

Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum. [PDF]

Kidney Int Rep
Pleško J, Kert Š, Petrin S, Borštnar Š, Haler ŽV, Meglič A, Piko N, Matjašič A, Kojc N, Zupan A.   +9 more
europepmc   +1 more source

Tetrahedral DNA nanostructure-delivered suppressor tRNA ameliorates nephropathy in <i>COL4A5</i> nonsense mutation-mediated Alport syndrome mice. [PDF]

NAR Mol Med
Lv J, Li Y, Hong D, Shen Y, Mi Z, Liang Q, Zheng Z, Kong B, Gao W, Dou Z, Tian S, Xia Q.   +11 more
europepmc   +1 more source