Aristaless related homeobox


Aristaless related homeobox

Aristaless related homeobox, also known as ARX is a protein associated with mental retardation and lissencephaly.cite web | title = Entrez Gene: ARX aristaless related homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=170302| accessdate = ]

PBB_Summary
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summary_text = This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. Mutations in this gene cause X-linked mental retardation and epilepsy, as well as hypoglycemia (in mice).cite web | title = Entrez Gene: ARX aristaless related homeobox| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=170302| accessdate = ]

ee also

* homeobox

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Mulley JC, Kerr B, Stevenson R, Lubs H |title=Nomenclature guidelines for X-linked mental retardation. |journal=Am. J. Med. Genet. |volume=43 |issue= 1-2 |pages= 383–91 |year= 1992 |pmid= 1605216 |doi=
*cite journal | author=Häne B, Schroer RJ, Arena JF, "et al." |title=Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21. |journal=Clin. Genet. |volume=50 |issue= 4 |pages= 176–83 |year= 1997 |pmid= 9001795 |doi=
*cite journal | author=Suri M |title=The phenotypic spectrum of ARX mutations. |journal=Developmental medicine and child neurology |volume=47 |issue= 2 |pages= 133–7 |year= 2005 |pmid= 15707237 |doi=
*cite journal | author=Partington MW, Mulley JC, Sutherland GR, "et al." |title=X-linked mental retardation with dystonic movements of the hands. |journal=Am. J. Med. Genet. |volume=30 |issue= 1-2 |pages= 251–62 |year= 1988 |pmid= 3177452 |doi=
*cite journal | author=Schutz CK, Ives EJ, Chalifoux M, "et al." |title=Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). |journal=Am. J. Med. Genet. |volume=64 |issue= 1 |pages= 89–96 |year= 1996 |pmid= 8826457 |doi= 10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O |doilabel=10.1002/(SICI)1096-8628(19960712)64:189::AID-AJMG163.0.CO;2-O
*cite journal | author=Holinski-Feder E, Golla A, Rost I, "et al." |title=Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). |journal=Am. J. Med. Genet. |volume=64 |issue= 1 |pages= 125–30 |year= 1996 |pmid= 8826462 |doi= 10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O |doilabel=10.1002/(SICI)1096-8628(19960712)64:1125::AID-AJMG213.0.CO;2-O
*cite journal | author=Claes S, Gu XX, Legius E, "et al." |title=Linkage analysis in three families with nonspecific X-linked mental retardation. |journal=Am. J. Med. Genet. |volume=64 |issue= 1 |pages= 137–46 |year= 1996 |pmid= 8826464 |doi= 10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N |doilabel=10.1002/(SICI)1096-8628(19960712)64:1137::AID-AJMG243.0.CO;2-N
*cite journal | author=Jemaa LB, des Portes V, Zemni R, "et al." |title=Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54). |journal=Am. J. Med. Genet. |volume=85 |issue= 3 |pages= 276–82 |year= 2000 |pmid= 10398243 |doi=
*cite journal | author=Hamel BC, Smits AP, van den Helm B, "et al." |title=Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. |journal=Am. J. Med. Genet. |volume=85 |issue= 3 |pages= 290–304 |year= 2000 |pmid= 10398246 |doi=
*cite journal | author=Blair HJ, Reed V, Gormally E, "et al." |title=Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome. |journal=Mamm. Genome |volume=11 |issue= 8 |pages= 710–2 |year= 2000 |pmid= 10920247 |doi=
*cite journal | author=Strømme P, Mangelsdorf ME, Shaw MA, "et al." |title=Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. |journal=Nat. Genet. |volume=30 |issue= 4 |pages= 441–5 |year= 2002 |pmid= 11889467 |doi= 10.1038/ng862
*cite journal | author=Bienvenu T, Poirier K, Friocourt G, "et al." |title=ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. |journal=Hum. Mol. Genet. |volume=11 |issue= 8 |pages= 981–91 |year= 2003 |pmid= 11971879 |doi=
*cite journal | author=Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J |title=Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. |journal=Brain Dev. |volume=24 |issue= 5 |pages= 266–8 |year= 2002 |pmid= 12142061 |doi=
*cite journal | author=Scheffer IE, Wallace RH, Phillips FL, "et al." |title=X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. |journal=Neurology |volume=59 |issue= 3 |pages= 348–56 |year= 2002 |pmid= 12177367 |doi=
*cite journal | author=Ohira R, Zhang YH, Guo W, "et al." |title=Human ARX gene: genomic characterization and expression. |journal=Mol. Genet. Metab. |volume=77 |issue= 1-2 |pages= 179–88 |year= 2003 |pmid= 12359145 |doi=
*cite journal | author=Turner G, Partington M, Kerr B, "et al." |title=Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. |journal=Am. J. Med. Genet. |volume=112 |issue= 4 |pages= 405–11 |year= 2003 |pmid= 12376946 |doi= 10.1002/ajmg.10714
*cite journal | author=Frints SG, Froyen G, Marynen P, "et al." |title=Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. |journal=Am. J. Med. Genet. |volume=112 |issue= 4 |pages= 427–8 |year= 2003 |pmid= 12376949 |doi= 10.1002/ajmg.10628
*cite journal | author=Kitamura K, Yanazawa M, Sugiyama N, "et al." |title=Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 359–69 |year= 2002 |pmid= 12379852 |doi= 10.1038/ng1009

External links

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