- ZIC3
Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila), also known as ZIC3, is a human
gene .cite web | title = Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7547| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs.cite web | title = Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7547| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Alonso S, Pierpont ME, Radtke W, "et al." |title=Heterotaxia syndrome and autosomal dominant inheritance. |journal=Am. J. Med. Genet. |volume=56 |issue= 1 |pages= 12–5 |year= 1995 |pmid= 7747776 |doi= 10.1002/ajmg.1320560105
*cite journal | author=Casey B, Devoto M, Jones KL, Ballabio A |title=Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 403–7 |year= 1994 |pmid= 8298651 |doi= 10.1038/ng1293-403
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Gebbia M, Ferrero GB, Pilia G, "et al." |title=X-linked situs abnormalities result from mutations in ZIC3. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 305–8 |year= 1997 |pmid= 9354794 |doi= 10.1038/ng1197-305
*cite journal | author=Klootwijk R, Franke B, van der Zee CE, "et al." |title=A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects. |journal=Hum. Mol. Genet. |volume=9 |issue= 11 |pages= 1615–22 |year= 2000 |pmid= 10861288 |doi=
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Koyabu Y, Nakata K, Mizugishi K, "et al." |title=Physical and functional interactions between Zic and Gli proteins. |journal=J. Biol. Chem. |volume=276 |issue= 10 |pages= 6889–92 |year= 2001 |pmid= 11238441 |doi= 10.1074/jbc.C000773200
*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=Weber JR, Sokol SY |title=Identification of a phylogenetically conserved activin-responsive enhancer in the Zic3 gene. |journal=Mech. Dev. |volume=120 |issue= 8 |pages= 955–64 |year= 2004 |pmid= 12963115 |doi=
*cite journal | author=Ware SM, Peng J, Zhu L, "et al." |title=Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. |journal=Am. J. Hum. Genet. |volume=74 |issue= 1 |pages= 93–105 |year= 2004 |pmid= 14681828 |doi=
*cite journal | author=Zhang J, Jin Z, Bao ZZ |title=Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection. |journal=Development |volume=131 |issue= 7 |pages= 1553–62 |year= 2004 |pmid= 14985256 |doi= 10.1242/dev.01041
*cite journal | author=Fritz B, Kunz J, Knudsen GP, "et al." |title=Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene? |journal=Eur. J. Hum. Genet. |volume=13 |issue= 1 |pages= 34–40 |year= 2005 |pmid= 15470371 |doi= 10.1038/sj.ejhg.5201213
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ross MT, Grafham DV, Coffey AJ, "et al." |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325–37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440
*cite journal | author=Bedard JE, Purnell JD, Ware SM |title=Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. |journal=Hum. Mol. Genet. |volume=16 |issue= 2 |pages= 187–98 |year= 2007 |pmid= 17185387 |doi= 10.1093/hmg/ddl461
*cite journal | author=Chhin B, Hatayama M, Bozon D, "et al." |title=Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. |journal=Hum. Mutat. |volume=28 |issue= 6 |pages= 563–70 |year= 2007 |pmid= 17295247 |doi= 10.1002/humu.20480
*cite journal | author=Zhu L, Harutyunyan KG, Peng JL, "et al." |title=Identification of a novel role of ZIC3 in regulating cardiac development. |journal=Hum. Mol. Genet. |volume=16 |issue= 14 |pages= 1649–60 |year= 2007 |pmid= 17468179 |doi= 10.1093/hmg/ddm106PBB_Controls
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