| pubmed-article:16173977 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C0241888 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C0206654 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C0221912 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C2745955 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C0205122 | lld:lifeskim |
| pubmed-article:16173977 | lifeskim:mentions | umls-concept:C1280464 | lld:lifeskim |
| pubmed-article:16173977 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:16173977 | pubmed:dateCreated | 2005-9-21 | lld:pubmed |
| pubmed-article:16173977 | pubmed:abstractText | There are several malignant or benign skin diseases which can be explained by the phenomenon of mosaicism or segmental manifestation, e. g. segmental neurofibromatosis 1 or cutaneous leiomyomatosis. Loss of heterozygosity is a crucial element for segmental manifestations. Two types of segmental manifestations can be defined in autosomal dominant skin diseases such as cutaneous leiomyomatosis. Type 1 is caused by a novel postzygotic segmental mutation; type 2 reflects an additional postzygotic loss of heterozygosity of the gene locus responsible for cutaneous leiomyomatosis in a initially heterozygous embryo. Loss of heterozygosity is a genetic process when a heterozygous cell becomes homozygous or hemizygous by loosing the corresponding wild-type allele. This phenomenon can be regarded as a precondition for tumor growth. In type-2 cases, the segmental manifestation is more distinctive with additional disseminated disease because of a germline mutation with heterozygosity of all somatic cells outside the strongly affected area. | lld:pubmed |
| pubmed-article:16173977 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16173977 | pubmed:language | ger | lld:pubmed |
| pubmed-article:16173977 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16173977 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16173977 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16173977 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:16173977 | pubmed:issn | 1610-0379 | lld:pubmed |
| pubmed-article:16173977 | pubmed:author | pubmed-author:SticherlingMi... | lld:pubmed |
| pubmed-article:16173977 | pubmed:author | pubmed-author:RennerReginaR | lld:pubmed |
| pubmed-article:16173977 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16173977 | pubmed:volume | 3 | lld:pubmed |
| pubmed-article:16173977 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16173977 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16173977 | pubmed:pagination | 695-9 | lld:pubmed |
| pubmed-article:16173977 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
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| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:meshHeading | pubmed-meshheading:16173977... | lld:pubmed |
| pubmed-article:16173977 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16173977 | pubmed:articleTitle | [Familial occurrence of a type 2 segmental manifestation of cutaneous leiomyomatosis]. | lld:pubmed |
| pubmed-article:16173977 | pubmed:affiliation | Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Leipzig. Regina.Renner@medizin.uni-leipzig.de | lld:pubmed |
| pubmed-article:16173977 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16173977 | pubmed:publicationType | English Abstract | lld:pubmed |
| pubmed-article:16173977 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16173977 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16173977 | lld:pubmed |
