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rdf:type |
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lifeskim:mentions |
umls-concept:C0006104,
umls-concept:C0017337,
umls-concept:C0018787,
umls-concept:C0205224,
umls-concept:C0591833,
umls-concept:C0596508,
umls-concept:C1171312,
umls-concept:C1334043,
umls-concept:C1419808,
umls-concept:C1423836,
umls-concept:C1623209,
umls-concept:C2755105
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pubmed:issue |
15
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pubmed:dateCreated |
2006-7-12
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pubmed:abstractText |
Mutations in SALL4, the human homolog of the Drosophila homeotic gene spalt (sal), cause the autosomal dominant disorder known as Okihiro syndrome. In this study, we show that a targeted null mutation in the mouse Sall4 gene leads to lethality during peri-implantation. Growth of the inner cell mass from the knockout blastocysts was reduced, and Sall4-null embryonic stem (ES) cells proliferated poorly with no aberrant differentiation. Furthermore, we demonstrated that anorectal and heart anomalies in Okihiro syndrome are caused by Sall4 haploinsufficiency and that Sall4/Sall1 heterozygotes exhibited an increased incidence of anorectal and heart anomalies, exencephaly and kidney agenesis. Sall4 and Sall1 formed heterodimers, and a truncated Sall1 caused mislocalization of Sall4 in the heterochromatin; thus, some symptoms of Townes-Brocks syndrome caused by SALL1 truncations could result from SALL4 inhibition.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0950-1991
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pubmed:author |
pubmed-author:AburataniHiroyukiH,
pubmed-author:AsashimaMakotoM,
pubmed-author:FujimuraSayokoS,
pubmed-author:KobayashiChiyokoC,
pubmed-author:KodamaTatsuhikoT,
pubmed-author:MatsumotoYukoY,
pubmed-author:NishinakamuraRyuichiR,
pubmed-author:Sakaki-YumotoMasayoM,
pubmed-author:SatoAkiraA,
pubmed-author:TakasatoMinoruM,
pubmed-author:YoshidaNobuakiN
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pubmed:issnType |
Print
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pubmed:volume |
133
|
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
3005-13
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16790473-Animals,
pubmed-meshheading:16790473-Blastocyst,
pubmed-meshheading:16790473-Brain,
pubmed-meshheading:16790473-Cell Culture Techniques,
pubmed-meshheading:16790473-Cell Differentiation,
pubmed-meshheading:16790473-Crosses, Genetic,
pubmed-meshheading:16790473-DNA-Binding Proteins,
pubmed-meshheading:16790473-Duane Retraction Syndrome,
pubmed-meshheading:16790473-Genotype,
pubmed-meshheading:16790473-Heart,
pubmed-meshheading:16790473-Heterozygote Detection,
pubmed-meshheading:16790473-Kidney,
pubmed-meshheading:16790473-Mice,
pubmed-meshheading:16790473-RNA, Small Interfering,
pubmed-meshheading:16790473-Rectum,
pubmed-meshheading:16790473-Stem Cells,
pubmed-meshheading:16790473-Transcription Factors,
pubmed-meshheading:16790473-Transfection
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pubmed:year |
2006
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pubmed:articleTitle |
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development.
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pubmed:affiliation |
Division of Integrative Cell Biology, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto 860-0811, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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