| pubmed-article:8113417 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0022567 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0079301 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0019409 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0171955 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0870432 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C1705417 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C1555465 | lld:lifeskim |
| pubmed-article:8113417 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:8113417 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:8113417 | pubmed:dateCreated | 1994-3-30 | lld:pubmed |
| pubmed-article:8113417 | pubmed:abstractText | Previous studies have correlated the Herlitz junctional epidermolysis bullosa (H-JEB) to an altered expression of the basement membrane component nicein/kalinin. This heterotrimeric glycoprotein appears to be present in H-JEB tissues in an abnormal form, because a number of antibodies specific to the protein either do not react with or weakly stain the epidermal basement membranes of most of the patients. With cDNA probes encoding each subunit of nicein and polyclonal antibodies raised against bacterial fusion polypeptides corresponding to the individual chains of the protein, we have molecularly analyzed the expression of nicein in H-JEB tissues and cultured keratinocytes. By immunohistochemistry, Northern blot, and protein analysis, we show a defective synthesis of one of the nicein subunits in six cases of H-JEB from five different consanguineous families. In two patients, the disease correlates with an impaired synthesis of the nicein B2 (nic B2) chain, in three others with that of the B1 (nic B1) chain, and in a sixth patient with that of the heavy A (nic A) chain. In this report, we thus demonstrate that H-JEB is a genetically heterogeneous disease and we provide strong evidence that the genes of nicein are the candidates for this genodermatosis. | lld:pubmed |
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| pubmed-article:8113417 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8113417 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8113417 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:8113417 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8113417 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8113417 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:8113417 | pubmed:issn | 0021-9738 | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:MeneguzziGG | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:MiquelCC | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:OrtonneJ PJP | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:Blanchet-Bard... | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:BaudoinCC | lld:pubmed |
| pubmed-article:8113417 | pubmed:author | pubmed-author:GambiniCC | lld:pubmed |
| pubmed-article:8113417 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8113417 | pubmed:volume | 93 | lld:pubmed |
| pubmed-article:8113417 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8113417 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8113417 | pubmed:pagination | 862-9 | lld:pubmed |
| pubmed-article:8113417 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:meshHeading | pubmed-meshheading:8113417-... | lld:pubmed |
| pubmed-article:8113417 | pubmed:year | 1994 | lld:pubmed |
| pubmed-article:8113417 | pubmed:articleTitle | Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. | lld:pubmed |
| pubmed-article:8113417 | pubmed:affiliation | INSERM U385 UFR, de Médecine, Nice, France. | lld:pubmed |
| pubmed-article:8113417 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8113417 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
