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Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta.
Cell transplantation studies suggest that mib function is essential in the signaling cell for efficient activation of Notch in neighboring cells, and observations support a model for Notch activation where the Delta-Notch interaction is followed by endocytosis of Delta and transendocyTosis of the Notch extracellular domain by the signalingcell. Expand
Repressor activity of Headless/Tcf3 is essential for vertebrate head formation
The zebrafish headless (hdl) mutant is described and it is shown that its severe head defects are due to a mutation in T-cell factor-3, a member of the Tcf/Lef family, providing genetic evidence that a component of the Wnt signalling pathway is essential in vertebrate head formation and patterning. Expand
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
It is concluded that AGS is caused by haploinsufficiency of JAG1, the human homologue of rat Jagged1, which encodes a ligand for the Notch receptor, an attractive candidate gene for a developmental disorder in humans. Expand
Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy
Compound jagged and notch gene knockdowns alter zebrafish biliary, kidney, pancreatic, cardiac and craniofacial development in a manner compatible with an AGS phenocopy, confirming an evolutionarily conserved role for Notch signaling in vertebrate liver development, and support the zebra fish as a model system for diseases of the human biliary system. Expand
Age Related Changes in 5‐methylcytosine Content in Human Peripheral Leukocytes and Placentas: an HPLC‐based Study
Analysis of 5‐methyldeoxycytidine content by HPLC in human peripheral blood leukocytes and human placentas revealed a significant variation of metC across individuals and is consistent with the previous findings of age‐dependent decrease of global methylation levels in human tissues. Expand
MEFV mutation analysis of familial Mediterranean fever in Japan.
- N. Tomiyama, Y. Higashiuesato, +11 authors S. Takishita
- Clinical and experimental rheumatology
The results of genetic analyses on 14 Japanese FMF patients revealed that E148Q and M694I are frequent alleles, and the identification of MEFV mutations could be a reliable diagnostic test for FMF. Expand
Global hypomethylation of peripheral leukocyte DNA in male patients with schizophrenia: a potential link between epigenetics and schizophrenia.
- M. Shimabukuro, Tsukasa Sasaki, +10 authors Y. Okazaki
- Biology, Medicine
- Journal of psychiatric research
- 1 December 2007
It is established that there is significant sex-dependent difference in the mC content of human peripheral leukocyte DNA, and the possibility that alterations in DNA methylation state are present in patients with schizophrenia is raised. Expand
Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.
The human Jagged1 (JAG1) appears to be a strong candidate gene for this disease, and full-length cDNA cloning, expression patterns, and precise physical location of this gene within the Alagille syndrome critical region are described. Expand
Expression analyses of human endogenous retroviruses (HERVs): tissue-specific and developmental stage-dependent expression of HERVs.
- Goichi Okahara, S. Matsubara, T. Oda, J. Sugimoto, Y. Jinno, F. Kanaya
- Biology, Medicine
- 1 December 2004
The results suggest that HERVs might have more diverse effects than currently thought and that term placentas in general showed larger interindividual differences in HERV expression levels. Expand
Transcriptionally active HERV-K genes: identification, isolation, and chromosomal mapping.
- J. Sugimoto, N. Matsuura, Y. Kinjo, N. Takasu, T. Oda, Y. Jinno
- Biology, Medicine
- 1 March 2001
The results, combined with those of the expression analysis by RT-PCR and subsequent sequencing of cloned products, suggest that LTR sequences with subtle base changes might play a role in gene regulation, such as tissue specificity of HERV-K expression. Expand