| pubmed-article:16754485 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16754485 | lifeskim:mentions | umls-concept:C0007452 | lld:lifeskim |
| pubmed-article:16754485 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
| pubmed-article:16754485 | lifeskim:mentions | umls-concept:C0004903 | lld:lifeskim |
| pubmed-article:16754485 | lifeskim:mentions | umls-concept:C0599883 | lld:lifeskim |
| pubmed-article:16754485 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:16754485 | pubmed:dateCreated | 2006-6-6 | lld:pubmed |
| pubmed-article:16754485 | pubmed:abstractText | The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele. Histologic studies of WBS show nesidioblastosis of the pancreas, adrenocortical cytomegaly, and persistent metanephric blastema of the kidney. Multiple lines of evidence indicate that the human 11p15.5 region is the locus of abnormality in WBS. Insulin-like growth factor II (IGF-2) frequently has been considered a candidate gene, and expression of IGF-2 is known to be significantly delayed in fetal skeletal muscle of double-muscle (DM) cattle. Other candidate genes recently have been proposed for WBS. A number of recessive alleles in the bovine myostatin gene (GDF8, mapped to bovine chromosome 2 and apparently orthologous to the human 2q22 region) have been shown to be responsible for DM. Recently the first human case of deficient GDF8 function has been reported, confirming the importance of this gene. Bovine IGF-2 has been sequenced and localized to chromosome 25. The primary purpose of this study was to compare and contrast histologic findings in DM and WBS. Immunohistochemical staining confirms changes similar to nesidioblastosis in the pancreas. Other dysplastic changes of a cystic nature are seen in the adrenal. The renal histology of DM fetuses did not appear significantly different than controls. | lld:pubmed |
| pubmed-article:16754485 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16754485 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16754485 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16754485 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16754485 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16754485 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16754485 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16754485 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16754485 | pubmed:issn | 1551-3815 | lld:pubmed |
| pubmed-article:16754485 | pubmed:author | pubmed-author:OpitzJ MJM | lld:pubmed |
| pubmed-article:16754485 | pubmed:author | pubmed-author:Gilbert-Barne... | lld:pubmed |
| pubmed-article:16754485 | pubmed:author | pubmed-author:Gendron-Fitzp... | lld:pubmed |
| pubmed-article:16754485 | pubmed:author | pubmed-author:BestL GLG | lld:pubmed |
| pubmed-article:16754485 | pubmed:author | pubmed-author:GerrardD EDE | lld:pubmed |
| pubmed-article:16754485 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16754485 | pubmed:volume | 25 | lld:pubmed |
| pubmed-article:16754485 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16754485 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16754485 | pubmed:pagination | 9-20 | lld:pubmed |
| pubmed-article:16754485 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:16754485 | pubmed:meshHeading | pubmed-meshheading:16754485... | lld:pubmed |
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| pubmed-article:16754485 | pubmed:meshHeading | pubmed-meshheading:16754485... | lld:pubmed |
| pubmed-article:16754485 | pubmed:articleTitle | "Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome. | lld:pubmed |
| pubmed-article:16754485 | pubmed:affiliation | Department of Family Practice, University of North Dakota, Grand Forks, North Dakota, USA. sbest@utma.com | lld:pubmed |
| pubmed-article:16754485 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16754485 | pubmed:publicationType | Comparative Study | lld:pubmed |
