Редактирование: COL4A4 (раздел)

==Publications==

{{medline-entry
|title=Chronic renal failure and shortened lifespan in [[COL4A3]] /- mice: an animal model for thin basement membrane nephropathy.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/16775036
|abstract=A heterozygous mutation in autosomal Alport genes [[COL4A3]] and [[COL4A4]] can be found in 20 to 50% of individuals with familial benign hematuria and diffuse glomerular basement membrane thinning (thin basement membrane nephropathy [TBMN]). Approximately 1% of humans are heterozygous carriers of mutations in the autosomal Alport genes and at risk for developing renal failure as a result of TBMN. The incidence and pathogenesis of renal failure in heterozygous [[COL4A3]]/4 mutation carriers is still unclear and was examined further in this study using [[COL4A3]] knockout mice. In heterozygous [[COL4A3]]( /-) mice lifespan, hematuria and renal function (serum urea and proteinuria) were monitored during a period of 3 yr, and renal tissue was examined by light and electron microscopy, immunohistochemistry, and Western blot. Lifespan of [[COL4A3]]( /-) mice was found to be significantly shorter than in healthy controls (21.7 versus 30.3 mo). Persistent glomerular hematuria was detected starting in week 9; proteinuria of > 0.1 g/L started after 3 mo of life and increased to > 3 g/L after 24 mo. The glomerular basement membrane was significantly thinned (167 versus 200 nm in wild type) in 30-wk-old mice, coinciding with focal glomerulosclerosis, tubulointerstitial fibrosis, and increased levels of TGF-beta and connective tissue growth factor. The renal phenotype in [[COL4A3]]( /-) mice resembled the clinical and histopathologic phenotype of human cases of TBMN with concomitant progression to chronic renal failure. Therefore, the [[COL4A3]]( /-) mouse model will help in the understanding of the pathogenesis of TBMN in humans and in the evaluation of potential therapies.
|mesh-terms=* Aging
* Animals
* Collagen Type IV
* Disease Models, Animal
* Extracellular Matrix
* Glomerular Basement Membrane
* Glomerulonephritis, Membranous
* Kidney
* Kidney Failure, Chronic
* Longevity
* Mice
* Mice, Transgenic
* Nephritis, Hereditary
* Phenotype
* Transforming Growth Factor beta
* Transforming Growth Factor beta1

|full-text-url=https://sci-hub.do/10.1681/ASN.2005101044
}}
{{medline-entry
|title=Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/14592452
|abstract=Little is known about mechanisms regulating gene expression for the alpha chains of basement membrane type IV collagen, arranged head-to-head in transcription units [[COL4A1]]-[[COL4A2]], [[COL4A3]]-[[COL4A4]], and [[COL4A5]]-[[COL4A6]], and implicated broadly in genetic diseases. To investigate these mechanisms, we generated transgenic mouse lines bearing 5'-flanking sequences of [[COL4A5]] and [[COL4A6]], cloned upstream of a lacZ reporter gene. A 3.8-kb fragment upstream of [[COL4A6]] directs reporter gene expression in the esophagus, stomach, and duodenum, whereas a 13.8-kb fragment directs expression in the esophagus only. A 10.6-kb fragment upstream of [[COL4A5]] directs expression in the esophagus. Coupled with evidence of long-range conservation between human and mouse non-coding sequences, described herein, our findings provide the first indication that highly specialized patterns characteristic of [[COL4A5]]-[[COL4A6]] expression in vivo arise from effects of distributed cis-acting regulatory elements on a bidirectional proximal promoter, itself transcriptionally competent.
|mesh-terms=* Aging
* Amino Acid Sequence
* Animals
* Collagen Type IV
* Gene Expression Regulation
* Genes, Regulator
* Humans
* Mice
* Mice, Transgenic
* Molecular Sequence Data
* Organ Specificity
* Protein Subunits
* Sequence Homology
* Species Specificity
* Tissue Distribution
* Transcriptional Activation
* Upper Gastrointestinal Tract

|full-text-url=https://sci-hub.do/10.1016/j.bbrc.2003.09.233
}}