PHOX2A

Summary

Gene Symbol: PHOX2A
Description: paired like homeobox 2a
Alias: ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired mesoderm homeobox protein 2A, ARIX1 homeodomain protein, aristaless homeobox homolog, aristaless homeobox protein homolog, arix homeodomain protein, paired-like homeobox 2A
Species: human
Products:     PHOX2A

Top Publications

  1. Longo L, Borghini S, Schena F, Parodi S, Albino D, Bachetti T, et al. PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. Int J Oncol. 2008;33:985-91 pubmed
    ..In this light, we have carried out a quantitative expression analysis of PHOX2B and its paralogue PHOX2A on a panel of NB cell lines and NB tumour samples to identify a possible differential expression between NB cells ..
  2. Wilzén A, Nilsson S, Sjöberg R, Kogner P, Martinsson T, Abel F. The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. Int J Oncol. 2009;34:697-705 pubmed
    ..analysis (Affymetrix HU133A) important players in the noradrenalin biosynthesis pathway (DBH, DDC, GATA2, GATA3, PHOX2A, PHOX2B, SLC6A2 SLC18A1 and TH) were found to be among the top ranked genes in showing lower expression in ..
  3. Langhauser M, Ustinova J, Rivera Milla E, Ivannikov D, Seidl C, Slomka C, et al. Ncam1a and Ncam1b: two carriers of polysialic acid with different functions in the developing zebrafish nervous system. Glycobiology. 2012;22:196-209 pubmed publisher
    ..Phylogenetic analyses reveal the presence of two related gene clusters, NCAM1 and NCAM2, in tetrapods and fishes...
  4. Mazzoni E, Mahony S, Closser M, Morrison C, Nedelec S, Williams D, et al. Synergistic binding of transcription factors to cell-specific enhancers programs motor neuron identity. Nat Neurosci. 2013;16:1219-27 pubmed publisher
    ..Replacement of Lhx3 by Phox2a led to specification of cranial, rather than spinal, motor neurons...
  5. Coleman J, Lin B, Louie J, Peterson J, Lane R, Schwob J. Spatial Determination of Neuronal Diversification in the Olfactory Epithelium. J Neurosci. 2019;39:814-832 pubmed publisher
    ..The vast majority of dorsal transplant-derived neurons express the ventral marker OCAM (NCAM2) and lose expression of NQO1 to match their new location...
  6. Pellegrino M, Parrish D, Zigmond R, Habecker B. Cytokines inhibit norepinephrine transporter expression by decreasing Hand2. Mol Cell Neurosci. 2011;46:671-80 pubmed publisher
    ..for suppression of noradrenergic genes is not well understood, but previous studies implicated a reduction of Phox2a in cytokine suppression of dopamine beta hydroxylase...
  7. Li M, Lu X, Xia H, Zhang C, Wang X, Chen Z, et al. In-depth characterization of the pituitary transcriptome in Simmental and Chinese native cattle. Domest Anim Endocrinol. 2019;66:35-42 pubmed publisher
    ..Our findings demonstrated that SYTL2, SLC38A4, and NCAM2 are new candidates for crucial functions in the secretory pathways of the pituitary gland...
  8. Fan Y, Chen P, Raza M, Szebeni A, Szebeni K, Ordway G, et al. Altered Expression of Phox2 Transcription Factors in the Locus Coeruleus in Major Depressive Disorder Mimicked by Chronic Stress and Corticosterone Treatment In Vivo and In Vitro. Neuroscience. 2018;393:123-137 pubmed publisher
    b>Phox2a and Phox2b are two homeodomain transcription factors playing a pivotal role in the development of noradrenergic neurons during the embryonic period. However, their expression and function in adulthood remain to be elucidated...
  9. Radó Trilla N, Arató K, Pegueroles C, Raya A, De La Luna S, Albà M. Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription Factors. Mol Biol Evol. 2015;32:2263-72 pubmed publisher
    ..We experimentally test the role of alanine-rich LCRs in two different TF gene families, PHOX2A/PHOX2B and LHX2/LHX9...

More Information

Publications59

  1. Rasmussen K, Falkesgaard M, Winther M, Roed N, Quistgaard C, Teisen M, et al. NCAM2 Fibronectin type-III domains form a rigid structure that binds and activates the Fibroblast Growth Factor Receptor. Sci Rep. 2018;8:8957 pubmed publisher
    NCAM1 and NCAM2 have ectodomains consisting of 5 Ig domains followed by 2 membrane-proximal FnIII domains. In this study we investigate and compare the structures and functions of these FnIII domains...
  2. Weng J, Wu L, Lee C, Hsu P, Cheng A. Integrative epigenetic profiling analysis identifies DNA methylation changes associated with chronic alcohol consumption. Comput Biol Med. 2015;64:299-306 pubmed publisher
    ..involved in neurogenesis (NPDC1) and inflammation (HERC5), as well as alcoholism-associated genes ADCY9, CKM, and PHOX2A. Given the limited sample size, our approach uncovered genes and disease pathways associated with chronic alcohol ..
  3. De Santis R, Garone M, Pagani F, de Turris V, Di Angelantonio S, Rosa A. Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector. Stem Cell Res. 2018;29:189-196 pubmed publisher
    ..of an inducible vector, based on the piggyBac transposon, allowing controlled activation of Ngn2, Isl1 and Phox2a (NIP). The NIP module effectively produced electrophysiologically active cranial motor neurons...
  4. Petit F, Plessis G, Decamp M, Cuisset J, Blyth M, Pendlebury M, et al. 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders. Eur J Med Genet. 2015;58:44-6 pubmed publisher
    Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene...
  5. Song S, Mao X, Wang C, Han A, Yan M, Xue X. LGR5/GPR49 is implicated in motor neuron specification in nervous system. Neurosci Lett. 2015;584:135-40 pubmed publisher
    ..CHRM3, and also reduced the expression of genes that program the identity of motor neurons, including Isl1, Lhx3, PHOX2A, TBX20 and NEUROG2...
  6. Khan A, Shaheen R, Alkuraya F. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. J AAPOS. 2014;18:362-7 pubmed publisher
    ..with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular ..
  7. Sheng L, Leshchyns ka I, Sytnyk V. Neural cell adhesion molecule 2 promotes the formation of filopodia and neurite branching by inducing submembrane increases in Ca2+ levels. J Neurosci. 2015;35:1739-52 pubmed publisher
    Changes in expression of the neural cell adhesion molecule 2 (NCAM2) have been proposed to contribute to neurodevelopmental disorders in humans. The role of NCAM2 in neuronal differentiation remains, however, poorly understood...
  8. Deleyrolle L, Sabourin J, Rothhut B, Fujita H, Guichet P, Teigell M, et al. OCAM regulates embryonic spinal cord stem cell proliferation by modulating ErbB2 receptor. PLoS ONE. 2015;10:e0122337 pubmed publisher
    ..Here we report the expression of the olfactory cell adhesion molecule (OCAM/NCAM2/RNCAM) during mouse spinal cord development and in neural stem cells cultured as neurospheres...
  9. Zhang J, Weng Z, Tsang K, Tsang L, Chan H, Jiang X. MycN Is Critical for the Maintenance of Human Embryonic Stem Cell-Derived Neural Crest Stem Cells. PLoS ONE. 2016;11:e0148062 pubmed publisher
    ..enhances the expression of key transcription factors involved in sympathetic neuron differentiation, including Phox2a, Phox2b, Mash1, Hand2 and Gata3...
  10. Li M, Liu F, Zhang Y, Wu X, Wu W, Wang X, et al. Whole-genome sequencing reveals the mutational landscape of metastatic small-cell gallbladder neuroendocrine carcinoma (GB-SCNEC). Cancer Lett. 2017;391:20-27 pubmed publisher
    ..Two gene fusions, NCAM2-SGCZ and BTG3-CCDC40 were also discovered and validated by Sanger sequencing...
  11. Nordquist S, Smith S, Pierce J. Systematic Functional Characterization of Human 21st Chromosome Orthologs in Caenorhabditis elegans. G3 (Bethesda). 2018;8:967-979 pubmed publisher
    ..i>dnsn-1 (DONSON), eva-1 (EVA1C), mtq-2 (N6ATM1), ncam-1 (NCAM2), pad-2 (POFUT2), pdxk-1 (PDXK), rnt-1 (RUNX1), and unc-26 (<..
  12. Leshchyns ka I, Liew H, Shepherd C, Halliday G, Stevens C, Ke Y, et al. Aβ-dependent reduction of NCAM2-mediated synaptic adhesion contributes to synapse loss in Alzheimer's disease. Nat Commun. 2015;6:8836 pubmed publisher
    ..We show that the neural cell adhesion molecule 2 (NCAM2) is enriched in synapses in the human hippocampus...
  13. Kim N, Park C, Jeong Y, Song M. Functional Diversification of Motor Neuron-specific Isl1 Enhancers during Evolution. PLoS Genet. 2015;11:e1005560 pubmed publisher
    ..All E1 sequences from lamprey to mouse responded equally well to Phox2a and the Isl1-Lhx3 complex...
  14. Chilton J, Guthrie S. Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders. Dev Neurobiol. 2017;77:861-875 pubmed publisher
    ..that ocular motility disorders can arise from mutations in transcription factors, including HoxA1, HoxB1, MafB, Phox2A, and Sall4, has revealed gene regulatory networks that pattern the brainstem and/or govern the differentiation of ..
  15. Sheng L, Leshchyns ka I, Sytnyk V. Neural Cell Adhesion Molecule 2 (NCAM2)-Induced c-Src-Dependent Propagation of Submembrane Ca2+ Spikes Along Dendrites Inhibits Synapse Maturation. Cereb Cortex. 2019;29:1439-1459 pubmed publisher
    The neural cell adhesion molecule 2 (NCAM2) is encoded by a gene on chromosome 21 in humans. NCAM2 accumulates in synapses, but its role in regulation of synapse formation remains poorly understood...
  16. Burbach J, Hellemons A, Grant P, Pant H. The homeodomain transcription factor Phox2 in the stellate ganglion of the squid Loligo pealei. Biol Open. 2015;4:954-60 pubmed publisher
    ..ones, we cloned a full length cDNA which encoded the squid ortholog of the paired-type homeodomain proteins Phox2a/b. The homology of lpPhox2 to invertebrate and mammalian Phox2 was limited to the homeodomain...
  17. Scholz C, Steinemann D, Mälzer M, Roy M, Arslan Kirchner M, Illig T, et al. NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?. Eur J Med Genet. 2016;59:493-8 pubmed publisher
    ..problems, disturbed sleep and macrosomia including macrocephaly carrying a microdeletion that contains the entire NCAM2 gene and no other functional genes...
  18. Di Lascio S, Belperio D, Benfante R, Fornasari D. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import. J Biol Chem. 2016;291:13375-93 pubmed publisher
    ..Because PHOX2B forms homodimers and heterodimers with its paralogue PHOX2A in vitro, we tested the hypothesis that the dominant negative effects of the mutated proteins are due to non-..
  19. Dong J, Shen Q, Li J, Du W, Pang H, Lin S, et al. [Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012;29:5-8 pubmed publisher
    To investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2). Genomic DNA was obtained from affected and unaffected members of the family...
  20. Swanson D, Zellmer E, Lewis E. The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes. J Biol Chem. 1997;272:27382-92 pubmed
    ..beta-hydroxylase (DBH) is regulated by cell type-specific transcription factors, including the homeoprotein Arix, and second messengers, including cyclic AMP...
  21. Wang S, Zwaan J, Mullaney P, Jabak M, al Awad A, Beggs A, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998;63:517-25 pubmed
    ..We now have mapped a variant of CFEOM, exotropic strabismus fixus ("CFEOM2")...
  22. Flora A, Lucchetti H, Benfante R, Goridis C, Clementi F, Fornasari D. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. J Neurosci. 2001;21:7037-45 pubmed
    b>Phox2a is a vertebrate homeodomain transcription factor that is involved in the specification of the autonomic nervous system...
  23. Adachi M, Lewis E. The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status. J Biol Chem. 2002;277:22915-24 pubmed
    The homeodomain transcription factor Arix/Phox2a plays a critical role in the specification of noradrenergic neurons by inducing the expression of dopamine beta-hydroxylase (DBH), the terminal enzyme for noradrenaline biosynthesis...
  24. Rychlik J, Gerbasi V, Lewis E. The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. J Biol Chem. 2003;278:49652-60 pubmed
    ..Transcription factors dHAND, a basic helix-loop-helix protein, and Arix/Phox2a, a homeoprotein, have been demonstrated to play a role in the differentiation and maintenance of catecholaminergic ..
  25. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003;114:22-6 pubmed
    ..We studied the RET, GDNF, GFRA1, PHOX2A, PHOX2B, HASH-1, EDN1, EDN3, EDNRB, and BDNF genes in seven patients with isolated CCHS and three patients with ..
  26. Weese Mayer D, Berry Kravis E, Zhou L, Maher B, Curran M, Silvestri J, et al. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004;56:391-5 pubmed
    ..We therefore studied genes pertinent to early embryologic development of the ANS, including MASH1, BMP2, PHOX2a, PHOX2b, RET, ECE1, EDN1, TLX3, and EN1 in 92 probands with SIDS and 92 gender- and ethnicity-matched control ..
  27. Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H, Yasuda T. ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. Acta Med Okayama. 2005;59:55-62 pubmed
    To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and ..
  28. Fedotov S, Bragina J, Besedina N, Danilenkova L, Kamysheva E, Kamyshev N. Gene CG15630 (fipi) is involved in regulation of the interpulse interval in Drosophila courtship song. J Neurogenet. 2017;:1-12 pubmed publisher
    ..FIPI is homologous to the mammalian NCAM2 protein, an important factor of neuronal development in the olfactory system...
  29. Rychlik J, Hsieh M, Eiden L, Lewis E. Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. J Mol Neurosci. 2005;27:281-92 pubmed
    ..and is dependent on the sequential and combinatorial expression of numerous transcription factors, including Phox2a, Phox2b, dHAND, GATA2, GATA3, and MASH1...
  30. Suebsoonthron J, Jaroonwitchawan T, Yamabhai M, Noisa P. Inhibition of WNT signaling reduces differentiation and induces sensitivity to doxorubicin in human malignant neuroblastoma SH-SY5Y cells. Anticancer Drugs. 2017;28:469-479 pubmed publisher
    ..The treatment of XAV939 resulted in the downregulation of mature neuronal markers, including ?-tubulin III, PHOX2A, and PHOX2B, whereas neural progenitor markers (PAX6, TFAP2?, and SLUG) were upregulated...
  31. Wen G, Wessel J, Zhou W, Ehret G, Rao F, Stridsberg M, et al. An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension. Hum Mol Genet. 2007;16:1752-64 pubmed
    ..ARIX (PHOX2A) and PHOX2B are identified as potential transactivating factors by oligonucleotide affinity chromatography and ..
  32. Ohkubo S, Matsuo T, Hasebe K, Shira Y, Itoshima E, Ohtsuki H. Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy. J Hum Genet. 2012;57:122-9 pubmed publisher
    ..We determined ARIX and PHOX2B polymorphisms as genotypes, and analyzed phenotype-phenotype and genotype-phenotype correlations in 37 ..
  33. An M, Kim C, Nam G, Kim D, Rhee S, Cho S, et al. Transcriptome analysis for UVB-induced phototoxicity in mouse retina. Environ Toxicol. 2018;33:52-62 pubmed publisher
    ..gene expression (eg, Chd5, Jarid2, Kat6a, Smarcc2, Sumo1, Zfp84), transcription factors (eg, Asxl2, Atf7, Per1, Phox2a, Rxra), RNA processing, and neuronal genes (eg, B4gal2, Drd1, Grm5, Rnf40, Rnps1, Usp39, Wbp4)...
  34. Matalia J, Panmand P, Ghalla P. Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2. Indian J Ophthalmol. 2017;65:1061-1063 pubmed publisher
    ..He was diagnosed with congenital fibrosis of extraocular muscles, type 2 (CFEOM2) and operated upon in a staged procedure with a satisfactory eye alignment using hang-back sutures in one eye and ..
  35. Di Lascio S, Saba E, Belperio D, Raimondi A, Lucchetti H, Fornasari D, et al. PHOX2A and PHOX2B are differentially regulated during retinoic acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line. Exp Cell Res. 2016;342:62-71 pubmed publisher
    PHOX2B and its paralogue gene PHOX2A are two homeodomain proteins in the network regulating the development of autonomic ganglia that have been associated with the pathogenesis of neuroblastoma (NB), because of their over-expression in ..
  36. Khan A, Khalil D, Al Sharif L, Al Tassan N. Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus. Ophthalmic Genet. 2009;30:206-7 pubmed publisher
  37. Fan Y, Huang J, Kieran N, Zhu M. Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. J Neurochem. 2009;110:1502-13 pubmed publisher
    b>Phox2a and Phox2b are two homeodomain proteins that control the differentiation of noradrenergic neurons during embryogenesis...
  38. Benfante R, Flora A, Di Lascio S, Cargnin F, Longhi R, Colombo S, et al. Transcription factor PHOX2A regulates the human alpha3 nicotinic receptor subunit gene promoter. J Biol Chem. 2007;282:13290-302 pubmed
    b>PHOX2A is a paired-like homeodomain transcription factor that participates in specifying the autonomic nervous system...
  39. Hsieh M, Lupas G, Rychlik J, Dziennis S, Habecker B, Lewis E. ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a. J Neurochem. 2005;94:1719-27 pubmed
    The homeodomain protein Arix/Phox2a plays a role in the development and maintenance of the noradrenergic cell type by regulating the transcription of genes involved in the biosynthesis and metabolism of noradrenaline...
  40. Brunet J, Pattyn A. Phox2 genes - from patterning to connectivity. Curr Opin Genet Dev. 2002;12:435-40 pubmed
    ..the logic in the transcriptional control of neuronal differentiation? Here, we review what recent work on the two neuronal-type-specific transcription factors Phox2a and Phox2b has contributed to our understanding of this broad question.
  41. Strømme P, Mangelsdorf M, Shaw M, Lower K, Lewis S, Bruyere H, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002;30:441-5 pubmed
    ..In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy. ..
  42. Swanson D, Adachi M, Lewis E. The homeodomain protein Arix promotes protein kinase A-dependent activation of the dopamine beta-hydroxylase promoter through multiple elements and interaction with the coactivator cAMP-response element-binding protein-binding protein. J Biol Chem. 2000;275:2911-23 pubmed
    ..In this study, we evaluate the molecular mechanisms by which the transcription factor Arix/Phox2a contributes to DBH gene transcription...
  43. Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Shows T, et al. A 5.5-Mb high-resolution integrated map of distal 11q13. Genomics. 1997;39:340-7 pubmed
    ..It will also lay the ground for the characterization of an amplicon surrounding GARP in breast cancer and for the search of disease genes within this region. ..
  44. Johnson K, Smith L, Johnson D, Rhodes J, Rinchik E, Thayer M, et al. Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. Genomics. 1996;33:527-31 pubmed
    The recently described homeodomain protein ARIX is expressed specifically in noradrenergic cell types of the sympathetic nervous system, brain, and adrenal medulla...
  45. Imai S, Matsuo T, Itoshima E, Ohtsuki H. Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. Acta Med Okayama. 2008;62:45-53 pubmed
    We analyzed nucleotide changes in 3 genes, ARIX, PHOX2B, and KIF21A, in 6 patients of 3 families with congenital superior oblique muscle palsy...
  46. Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, et al. Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. Eur J Hum Genet. 2007;15:848-55 pubmed
    ..regulation of TLX2 expression by the homeoprotein PHOX2B, in the present work, we have focused on its paralogue PHOX2A. By co-transfections, electrophoretic mobility shift assays and chromatin immunoprecipitation, we have ..
  47. Bachetti T, Borghini S, Ravazzolo R, Ceccherini I. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expr. 2005;12:137-49 pubmed
    ..It has been shown that the transcription factors HOX11L1, HOX11L2, MASH1, PHOX2A, and PHOX2B are all necessary, to various extents, to the correct development of the autonomic nervous system...
  48. Yazdani A, Chung D, Abbaszadegan M, Al Khayer K, Chan W, Yazdani M, et al. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol. 2003;136:861-5 pubmed
    ..recessive congenital fibrosis of the extraocular muscles (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene. Experimental study. Institutional practice...
  49. Nakano M, Yamada K, Fain J, Sener E, Selleck C, Awad A, et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001;29:315-20 pubmed
    ..Here, we report three mutations in ARIX (also known as PHOX2A) in four CFEOM2 pedigrees...