| pubmed-article:9749944 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0010453 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0251815 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0009333 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0016030 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0221928 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0035696 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C1567742 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C1524075 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
| pubmed-article:9749944 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
| pubmed-article:9749944 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:9749944 | pubmed:dateCreated | 1998-11-24 | lld:pubmed |
| pubmed-article:9749944 | pubmed:abstractText | COL4A5 mutations causing X-linked Alport syndrome (XLAS) are frequently associated with absence of the alpha3, alpha4,alpha5 and alpha6 chains of type IV collagen from basement membranes and increased amounts of the alpha1(IV) and alpha2(IV) chains in glomerular basement membrane. Although many COL4A5 mutations have been described in XLAS, the mechanisms by which these mutations influence the basement membrane appearance of chains other than alpha5(IV) remain poorly understood. In this study, we used dermal fibroblasts from eight normal individuals and nine males with XLAS to test the hypotheses that COL4A5 mutations increase transcription of COL4A1 and suppress transcription of COL4A6. Ribonuclease protection assays revealed that alpha1(IV), alpha5(IV) and alpha6(IV) transcripts were expressed in cultures of dermal fibroblasts. The mRNA levels for alpha1(IV) in eight of nine patients with XLAS were not increased compared to controls; one patient with a large COL4A5 deletion showed significant elevation of alpha1(IV) mRNA levels. No differences in steady-state mRNA levels for alpha6(IV) were found when XLAS fibroblasts were compared with controls, even though little or no alpha6(IV) protein was detectable at the dermal-epidermal junction by immunofluorescence study. This finding suggests that post-transcriptional events account for the absence of alpha6(IV) in the Alport dermal-epidermal junction. | lld:pubmed |
| pubmed-article:9749944 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9749944 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9749944 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9749944 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9749944 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9749944 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9749944 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9749944 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9749944 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:9749944 | pubmed:issn | 0945-053X | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:SasakiSS | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:YipD YDY | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:MichaelA FAF | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:KimYY | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:GregoryM CMC | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:NinomiyaYY | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:BarkerD FDF | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:AtkinC LCL | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:SadiSS | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:ZhouJJ | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:ZhouBB | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:KashtanC ECE | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:SegalYY | lld:pubmed |
| pubmed-article:9749944 | pubmed:author | pubmed-author:DenisonJ CJC | lld:pubmed |
| pubmed-article:9749944 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9749944 | pubmed:volume | 17 | lld:pubmed |
| pubmed-article:9749944 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9749944 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9749944 | pubmed:pagination | 279-91 | lld:pubmed |
| pubmed-article:9749944 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:meshHeading | pubmed-meshheading:9749944-... | lld:pubmed |
| pubmed-article:9749944 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9749944 | pubmed:articleTitle | Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome. | lld:pubmed |
| pubmed-article:9749944 | pubmed:affiliation | Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455, USA. | lld:pubmed |
| pubmed-article:9749944 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9749944 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9749944 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9749944 | lld:pubmed |
