Aristaless related homeobox: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Aristaless related homeobox''' is a [[protein]] that in humans is encoded by the ''ARX'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ARX aristaless related homeobox| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=170302| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Aristaless related homeobox
| HGNCid = 18060
| Symbol = ARX
| AltSymbols =; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRXS1; PRTS
| OMIM = 300382
| ECnumber = 
| Homologene = 68998
| MGIid = 1097716
| GeneAtlas_image1 = PBB_GE_ARX_gnf1h01283_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_ARX_gnf1h01284_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001764 |text = neuron migration}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0030900 |text = forebrain development}} {{GNF_GO|id=GO:0042127 |text = regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 170302
    | Hs_Ensembl = ENSG00000004848
    | Hs_RefseqProtein = NP_620689
    | Hs_RefseqmRNA = NM_139058
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 24931732
    | Hs_GenLoc_end = 24943986
    | Hs_Uniprot = Q96QS3
    | Mm_EntrezGene = 11878
    | Mm_Ensembl = ENSMUSG00000035277
    | Mm_RefseqmRNA = XM_979717
    | Mm_RefseqProtein = XP_984811
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 89539365
    | Mm_GenLoc_end = 89551080
    | Mm_Uniprot = O35085
  }}
}}
'''Aristaless related homeobox''', also known as '''ARX''' is a protein associated with [[mental retardation]] and [[lissencephaly]].<ref name="entrez">{{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 = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| 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).<ref name="entrez">{{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 = }}</ref>
 
}}
Mutation in the ARX gene are associated with X-linked [[intellectual disability]], [[lissencephaly]], as well as [[hypoglycemia]] (in mice).<ref name="entrez"/>


==See also==
==See also==
Line 59: Line 14:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=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=10.1002/ajmg.1320430159 }}
| citations =
*{{cite journal  | vauthors=Häne B, Schroer RJ, Arena JF |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=10.1111/j.1399-0004.1996.tb02622.x  |display-authors=etal}}
*{{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=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=10.1017/S001216220500023X }}
*{{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  | vauthors=Partington MW, Mulley JC, Sutherland GR |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=10.1002/ajmg.1320300127 |display-authors=etal}}
*{{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  | vauthors=Schutz CK, Ives EJ, Chalifoux M |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 |display-authors=etal}}
*{{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  | vauthors=Holinski-Feder E, Golla A, Rost I |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 |display-authors=etal}}
*{{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 }}
*{{cite journal  | vauthors=Claes S, Gu XX, Legius E |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 |display-authors=etal}}
*{{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 }}
*{{cite journal  | vauthors=Jemaa LB, des Portes V, Zemni R |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=10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I  |display-authors=etal}}
*{{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 }}
*{{cite journal  | vauthors=Hamel BC, Smits AP, van den Helm B |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=10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H  |display-authors=etal}}
*{{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  | vauthors=Blair HJ, Reed V, Gormally E |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=10.1007/s003350010141  |display-authors=etal}}
*{{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  | vauthors=Strømme P, Mangelsdorf ME, Shaw MA |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 |display-authors=etal}}
*{{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  | vauthors=Bienvenu T, Poirier K, Friocourt G |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=10.1093/hmg/11.8.981  |display-authors=etal}}
*{{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  | vauthors=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=10.1016/S0387-7604(02)00079-7 }}
*{{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  | vauthors=Scheffer IE, Wallace RH, Phillips FL |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=  10.1212/wnl.59.3.348|display-authors=etal}}
*{{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  | vauthors=Ohira R, Zhang YH, Guo W |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=10.1016/S1096-7192(02)00126-9  |display-authors=etal}}
*{{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  | vauthors=Turner G, Partington M, Kerr B |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 |display-authors=etal}}
*{{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  | vauthors=Frints SG, Froyen G, Marynen P |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 |display-authors=etal}}
*{{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  | vauthors=Kitamura K, Yanazawa M, Sugiyama N |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 |display-authors=etal}}
*{{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 }}
}}
{{refend}}
{{refend}}


==External links==
==External links==
* {{MeshName|aristaless+related+homeobox+protein,+human}}
* {{MeshName|aristaless+related+homeobox+protein,+human}}
* {{UCSC gene info|ARX}}


{{NLM content}}
{{Transcription factors|g3}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{gene-X-stub}}

Revision as of 03:12, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[1]

Function

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.[1]

Clinical significance

Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).[1]

See also

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: ARX aristaless related homeobox".

Further reading

  • Mulley JC, Kerr B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. doi:10.1002/ajmg.1320430159. PMID 1605216.
  • Häne B, Schroer RJ, Arena JF, et al. (1997). "Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21". Clin. Genet. 50 (4): 176–83. doi:10.1111/j.1399-0004.1996.tb02622.x. PMID 9001795.
  • Suri M (2005). "The phenotypic spectrum of ARX mutations". Developmental medicine and child neurology. 47 (2): 133–7. doi:10.1017/S001216220500023X. PMID 15707237.
  • Partington MW, Mulley JC, Sutherland GR, et al. (1988). "X-linked mental retardation with dystonic movements of the hands". Am. J. Med. Genet. 30 (1–2): 251–62. doi:10.1002/ajmg.1320300127. PMID 3177452.
  • Schutz CK, Ives EJ, Chalifoux M, et al. (1996). "Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)". Am. J. Med. Genet. 64 (1): 89–96. doi:10.1002/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O. PMID 8826457.
  • Holinski-Feder E, Golla A, Rost I, et al. (1996). "Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)". Am. J. Med. Genet. 64 (1): 125–30. doi:10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O. PMID 8826462.
  • Claes S, Gu XX, Legius E, et al. (1996). "Linkage analysis in three families with nonspecific X-linked mental retardation". Am. J. Med. Genet. 64 (1): 137–46. doi:10.1002/(SICI)1096-8628(19960712)64:1<137::AID-AJMG24>3.0.CO;2-N. PMID 8826464.
  • Jemaa LB, des Portes V, Zemni R, et al. (2000). "Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)". Am. J. Med. Genet. 85 (3): 276–82. doi:10.1002/(SICI)1096-8628(19990730)85:3<276::AID-AJMG18>3.0.CO;2-I. PMID 10398243.
  • Hamel BC, Smits AP, van den Helm B, et al. (2000). "Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis". Am. J. Med. Genet. 85 (3): 290–304. doi:10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H. PMID 10398246.
  • Blair HJ, Reed V, Gormally E, et al. (2000). "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". Mamm. Genome. 11 (8): 710–2. doi:10.1007/s003350010141. PMID 10920247.
  • Strømme P, Mangelsdorf ME, Shaw MA, et al. (2002). "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5. doi:10.1038/ng862. PMID 11889467.
  • Bienvenu T, Poirier K, Friocourt G, et al. (2003). "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation". Hum. Mol. Genet. 11 (8): 981–91. doi:10.1093/hmg/11.8.981. PMID 11971879.
  • Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J (2002). "Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX". Brain Dev. 24 (5): 266–8. doi:10.1016/S0387-7604(02)00079-7. PMID 12142061.
  • Scheffer IE, Wallace RH, Phillips FL, et al. (2002). "X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX". Neurology. 59 (3): 348–56. doi:10.1212/wnl.59.3.348. PMID 12177367.
  • Ohira R, Zhang YH, Guo W, et al. (2003). "Human ARX gene: genomic characterization and expression". Mol. Genet. Metab. 77 (1–2): 179–88. doi:10.1016/S1096-7192(02)00126-9. PMID 12359145.
  • Turner G, Partington M, Kerr B, et al. (2003). "Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation". Am. J. Med. Genet. 112 (4): 405–11. doi:10.1002/ajmg.10714. PMID 12376946.
  • Frints SG, Froyen G, Marynen P, et al. (2003). "Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome". Am. J. Med. Genet. 112 (4): 427–8. doi:10.1002/ajmg.10628. PMID 12376949.
  • Kitamura K, Yanazawa M, Sugiyama N, et al. (2002). "Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans". Nat. Genet. 32 (3): 359–69. doi:10.1038/ng1009. PMID 12379852.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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