Property Summary

NCBI Gene PubMed Count 73
Grant Count 33
R01 Count 15
Funding $7,543,168.03
PubMed Score 150.14
PubTator Score 289.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -3.000 0.001
ependymoma -3.700 0.000
oligodendroglioma -2.600 0.007
glioblastoma -3.000 0.006
medulloblastoma -4.400 0.000
atypical teratoid / rhabdoid tumor -1.900 0.033
medulloblastoma, large-cell -4.100 0.005
pilocytic astrocytoma -2.600 0.003
ovarian cancer -5.000 0.000
pituitary cancer -1.900 0.000
chronic rhinosinusitis -1.349 0.016
cystic fibrosis and chronic rhinosinusit... -1.486 0.028

Gene RIF (60)

PMID Text
26633894 ARX plays a key role in pancreatic endocrine fate specification of pancreatic polypeptide, somatostatin, glucagon and insulin positive cells from human embryonic stem cells.
26337422 Neurodevelopmental disturbances in the patients may not simply arise from increased dosage due to ARX duplication.
25171319 an expansion of 7 alanines in the first polyalanine tract of both human ARX and mouse Arx altered enteroendocrine differentiation; conclude ARX/Arx is required for the specification of a subset of enteroendocrine cells in both humans and mice
25044608 ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency.
24794919 The data of this study suggested that some of the structural and behavioral anomalies, common in patients with ARX mutations, are specifically due to alterations in pallial progenitor function.
24528893 indings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia
23657928 nonmalformation phenotype with intellectual disability and dystonia is caused by a ARX missense mutation located outside the regions coding polyA tracts
23583054 aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys
23072184 One patient in a Turkish family representing non-syndromic X-linked mental retardation shows an abnormal band pattern on agarose gel; sequence analysis of exon 2 of ARX reveals that the patient has the c.428_451 dup(24bp) mutation.
22922607 Novel ARX mutation in 3 brothers associates with mild developmental delay and early hand preference.
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AA Sequence

MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKS      1 - 70
SSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPD     71 - 140
GAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGG    141 - 210
PGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAA    211 - 280
AVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKT    281 - 350
HYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFP    351 - 420
PHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAP    421 - 490
LTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE    491 - 560
VC                                                                        561 - 562
//

Publication (73)

PMID Year Title
26633894 2015 The Role of ARX in Human Pancreatic Endocrine Specification.
26337422 2015 Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
25171319 2015 Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.
25044608 2014 Whole ARX gene duplication is compatible with normal intellectual development.
24794919 2015 Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations.
24727054 Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
24528893 2014 The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
23657928 2013 Expanding the phenotype associated with missense mutations of the ARX gene.
23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.
23072184 2012 C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.
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