PITX3


PITX3

Paired-like homeodomain transcription factor 3, also known as PITX3, is a human gene.cite web | title = Entrez Gene: PITX3 paired-like homeodomain transcription factor 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5309| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts. This protein is involved in lens formation during eye development.cite web | title = Entrez Gene: PITX3 paired-like homeodomain transcription factor 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5309| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Smits SM, Smidt MP |title=The role of Pitx3 in survival of midbrain dopaminergic neurons. |journal=J. Neural Transm. Suppl. |volume= |issue= 70 |pages= 57–60 |year= 2006 |pmid= 17017509 |doi=
*cite journal | author=Hittner HM, Kretzer FL, Antoszyk JH, "et al." |title=Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. |journal=Am. J. Ophthalmol. |volume=93 |issue= 1 |pages= 57–70 |year= 1982 |pmid= 6801987 |doi=
*cite journal | author=Semina EV, Ferrell RE, Mintz-Hittner HA, "et al." |title=A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 167–70 |year= 1998 |pmid= 9620774 |doi= 10.1038/527
*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=Berry V, Yang Z, Addison PK, "et al." |title=Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). |journal=J. Med. Genet. |volume=41 |issue= 8 |pages= e109 |year= 2004 |pmid= 15286169 |doi= 10.1136/jmg.2004.020289
*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=Finzi S, Li Y, Mitchell TN, "et al." |title=Posterior polar cataract: genetic analysis of a large family. |journal=Ophthalmic Genet. |volume=26 |issue= 3 |pages= 125–30 |year= 2005 |pmid= 16272057 |doi= 10.1080/13816810500229124
*cite journal | author=Martinat C, Bacci JJ, Leete T, "et al." |title=Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 8 |pages= 2874–9 |year= 2006 |pmid= 16477036 |doi= 10.1073/pnas.0511153103
*cite journal | author=Bidinost C, Matsumoto M, Chung D, "et al." |title=Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. |journal=Invest. Ophthalmol. Vis. Sci. |volume=47 |issue= 4 |pages= 1274–80 |year= 2006 |pmid= 16565358 |doi= 10.1167/iovs.05-1095
*cite journal | author=Burdon KP, McKay JD, Wirth MG, "et al." |title=The PITX3 gene in posterior polar congenital cataract in Australia. |journal=Mol. Vis. |volume=12 |issue= |pages= 367–71 |year= 2006 |pmid= 16636655 |doi=
*cite journal | author=Sakazume S, Sorokina E, Iwamoto Y, Semina EV |title=Functional analysis of human mutations in homeodomain transcription factor PITX3. |journal=BMC Mol. Biol. |volume=8 |issue= |pages= 84 |year= 2007 |pmid= 17888164 |doi= 10.1186/1471-2199-8-84

External links

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PBB_Controls
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