- ZEB2
Zinc finger E-box binding homeobox 2, also known as ZEB2, is a human
gene .cite web | title = Entrez Gene: ZEB2 zinc finger E-box binding homeobox 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9839| accessdate = ]ZEB2 is a
zinc finger gene associated withMowat-Wilson syndrome .PBB_Summary
section_title =
summary_text = The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (TCF8; MIM 189909)/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs (see MIM 605568). [supplied by OMIM] cite web | title = Entrez Gene: ZEB2 zinc finger E-box binding homeobox 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9839| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Mowat DR, Wilson MJ, Goossens M |title=Mowat-Wilson syndrome. |journal=J. Med. Genet. |volume=40 |issue= 5 |pages= 305–10 |year= 2003 |pmid= 12746390 |doi=
*cite journal | author=Nagase T, Ishikawa K, Miyajima N, "et al." |title=Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–9 |year= 1998 |pmid= 9628581 |doi=
*cite journal | author=Ueki N, Oda T, Kondo M, "et al." |title=Selection system for genes encoding nuclear-targeted proteins. |journal=Nat. Biotechnol. |volume=16 |issue= 13 |pages= 1338–42 |year= 1999 |pmid= 9853615 |doi= 10.1038/4315
*cite journal | author=Verschueren K, Remacle JE, Collart C, "et al." |title=SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes. |journal=J. Biol. Chem. |volume=274 |issue= 29 |pages= 20489–98 |year= 1999 |pmid= 10400677 |doi=
*cite journal | author=Wakamatsu N, Yamada Y, Yamada K, "et al." |title=Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. |journal=Nat. Genet. |volume=27 |issue= 4 |pages= 369–70 |year= 2001 |pmid= 11279515 |doi= 10.1038/86860
*cite journal | author=Comijn J, Berx G, Vermassen P, "et al." |title=The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion. |journal=Mol. Cell |volume=7 |issue= 6 |pages= 1267–78 |year= 2001 |pmid= 11430829 |doi=
*cite journal | author=Cacheux V, Dastot-Le Moal F, Kääriäinen H, "et al." |title=Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. |journal=Hum. Mol. Genet. |volume=10 |issue= 14 |pages= 1503–10 |year= 2001 |pmid= 11448942 |doi=
*cite journal | author=Tylzanowski P, Verschueren K, Huylebroeck D, Luyten FP |title=Smad-interacting protein 1 is a repressor of liver/bone/kidney alkaline phosphatase transcription in bone morphogenetic protein-induced osteogenic differentiation of C2C12 cells. |journal=J. Biol. Chem. |volume=276 |issue= 43 |pages= 40001–7 |year= 2001 |pmid= 11477103 |doi= 10.1074/jbc.M104112200
*cite journal | author=Yamada K, Yamada Y, Nomura N, "et al." |title=Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1178–85 |year= 2002 |pmid= 11592033 |doi=
*cite journal | author=Amiel J, Espinosa-Parrilla Y, Steffann J, "et al." |title=Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1370–7 |year= 2002 |pmid= 11595972 |doi=
*cite journal | author=Zweier C, Albrecht B, Mitulla B, "et al." |title="Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. |journal=Am. J. Med. Genet. |volume=108 |issue= 3 |pages= 177–81 |year= 2002 |pmid= 11891681 |doi=
*cite journal | author=Nagaya M, Kato J, Niimi N, "et al." |title=Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality. |journal=J. Pediatr. Surg. |volume=37 |issue= 8 |pages= 1117–22 |year= 2002 |pmid= 12149685 |doi=
*cite journal | author=Guaita S, Puig I, Franci C, "et al." |title=Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression. |journal=J. Biol. Chem. |volume=277 |issue= 42 |pages= 39209–16 |year= 2002 |pmid= 12161443 |doi= 10.1074/jbc.M206400200
*cite journal | author=Espinosa-Parrilla Y, Amiel J, Augé J, "et al." |title=Expression of the SMADIP1 gene during early human development. |journal=Mech. Dev. |volume=114 |issue= 1-2 |pages= 187–91 |year= 2003 |pmid= 12175509 |doi=
*cite journal | author=Yoneda M, Fujita T, Yamada Y, "et al." |title=Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. |journal=Neurology |volume=59 |issue= 10 |pages= 1637–40 |year= 2002 |pmid= 12451214 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Postigo AA |title=Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway. |journal=EMBO J. |volume=22 |issue= 10 |pages= 2443–52 |year= 2003 |pmid= 12743038 |doi= 10.1093/emboj/cdg225
*cite journal | author=Postigo AA, Depp JL, Taylor JJ, Kroll KL |title=Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins. |journal=EMBO J. |volume=22 |issue= 10 |pages= 2453–62 |year= 2003 |pmid= 12743039 |doi= 10.1093/emboj/cdg226
*cite journal | author=Zweier C, Temple IK, Beemer F, "et al." |title=Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. |journal=J. Med. Genet. |volume=40 |issue= 8 |pages= 601–5 |year= 2003 |pmid= 12920073 |doi=External links
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