Results 101 to 110 of about 3,403 (162)

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

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

Autosomal Dominant Alport Syndrome. [PDF]

J Am Soc Nephrol
Savige J, Huang M.
europepmc   +1 more source

Prognostic and immunological value of LINC01615-related genes in kidney clear cell carcinoma: Integrated bioinformatics analysis and expression validation. [PDF]

Medicine (Baltimore)
Guo S, Xu S, Song P, Fu J, Wang S, Xie W, Wang Y.   +6 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

Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing. [PDF]

Mol Genet Metab Rep
Ahmed LI, Mohammed DA, Sharif DA.
europepmc   +1 more source

Alport Syndrome-Associated Pathogenic <i>COL4A4</i> Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis. [PDF]

Int J Genomics
Farooq B, Qureshi ZH, Khan MT, Faisal M, Lodhi MS.   +4 more
europepmc   +1 more source

Transcriptomic profiling of collagen gene expression in lung fibroblasts from patients with idiopathic pulmonary fibrosis. [PDF]

Sarcoidosis Vasc Diffuse Lung Dis
Seo EJ, Park SL, Kim MK, Choi JS, Hwang HG, Kim JH, Chang HS, Park CS, Lee JU.   +8 more
europepmc   +1 more source

The Common Collagen of Alport Syndrome and Arthritis: A Case Report and Review of Pathophysiology. [PDF]

Case Rep Nephrol
Mendonca CA, Haider L, Attre A, Mortensen EM, Maheshwari N.   +4 more
europepmc   +1 more source

Extraction, structural characterization and SNP identification of related genes of collagen from local pigs in Guizhou. [PDF]

BMC Genomics
Zhang YD, Yang X, Xia W, Liu YQ, Zhang YY, Chen W.   +5 more
europepmc   +1 more source

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results. [PDF]

Eur J Hum Genet
Riedhammer KM, Richthammer P, Westphal DS, Ćomić J, Günthner R, Braunisch MC, Büscher AK, Klein HG, Weber S, Hoefele J.   +9 more
europepmc   +1 more source