paired box transcription factors


Summary: A family of transcription factors that control EMBRYONIC DEVELOPMENT within a variety of cell lineages. They are characterized by a highly conserved paired DNA-binding domain that was first identified in DROSOPHILA segmentation genes.

Top Publications

  1. Carbe C, Hertzler Schaefer K, Zhang X. The functional role of the Meis/Prep-binding elements in Pax6 locus during pancreas and eye development. Dev Biol. 2012;363:320-9 pubmed publisher
    ..Together, these results provide functional evidence for the independent and synergistic roles of the Pax6 upstream enhancers, and they suggest the potential redundancy of Meis/Prep protein in Pax6 regulation...
  2. Mi D, Carr C, Georgala P, Huang Y, Manuel M, Jeanes E, et al. Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb. Neuron. 2013;78:269-84 pubmed publisher
    ..Our results indicate that Pax6's modulation of cortical progenitor cell cycles is regional and direct. ..
  3. Ravi V, Bhatia S, Gautier P, Loosli F, Tay B, Tay A, et al. Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences. PLoS Genet. 2013;9:e1003177 pubmed publisher
    ..In summary, our study reveals that the pleiotropic functions of Pax6 in vertebrates are served by a divergent family of Pax6 genes, forged by ancient duplication events and by independent, lineage-specific gene losses. ..
  4. Knoepp S, Kunju L, Roh M. Utility of PAX8 and PAX2 immunohistochemistry in the identification of renal cell carcinoma in diagnostic cytology. Diagn Cytopathol. 2012;40:667-72 pubmed publisher
    ..Overall, the results indicate that PAX8 and PAX2 are diagnostically useful adjuncts in confirming the diagnosis of RCC in cytology specimens. ..
  5. Gosmain Y, Cheyssac C, Masson M, Guerardel A, Poisson C, Philippe J. Pax6 is a key component of regulated glucagon secretion. Endocrinology. 2012;153:4204-15 pubmed publisher
    ..We propose that Pax6 is not only critical for glucagon biosynthesis but also for glucagon secretion particularly in response to nutrients. ..
  6. Mhawech Fauceglia P, Wang D, Samrao D, Godoy H, Ough F, Liu S, et al. Pair Box 8 (PAX8) protein expression in high grade, late stage (stages III and IV) ovarian serous carcinoma. Gynecol Oncol. 2012;127:198-201 pubmed publisher
    ..Despite showing that PAX8 protein is not a useful predictive marker in patients with high grade, advanced stage OSC, its overexpression in a large number of these cases makes the inhibition of PAX8 a very attractive targeted therapy. ..
  7. Appolloni I, Calzolari F, Barilari M, Terrile M, Daga A, Malatesta P. Antagonistic modulation of gliomagenesis by Pax6 and Olig2 in PDGF-induced oligodendroglioma. Int J Cancer. 2012;131:E1078-87 pubmed publisher
    ..Our data, therefore, establish the relevance of physiological regulators of neural stem cell biology in regulating glial tumor malignancy and provide support for their functional interactions in this context...
  8. Park S, Kim M, Chae H, Kim Y, Kim M. Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. Mol Vis. 2012;18:488-94 pubmed
    ..We also found four novel PAX6 mutations associated with aniridia. ..
  9. Kiselev Y, Eriksen T, Forsdahl S, Nguyen L, Mikkola I. 3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes. PLoS ONE. 2012;7:e31915 pubmed publisher
    ..Furthermore, a change in morphology of the stably transfected Pax6 and Pax6(5a) cells was observed, and the Pax6 expressing cells were shown to have increased proliferation and migration capacities. ..

More Information


  1. Lim H, Seo E, Kim G, Ahn H, Lee H, Shin K, et al. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology. 2012;119:1258-64 pubmed publisher
    ..The authors have no proprietary or commercial interest in any of the materials discussed in this article. ..
  2. Paternoster L, Zhurov A, Toma A, Kemp J, St Pourcain B, Timpson N, et al. Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet. 2012;90:478-85 pubmed publisher
    ..Our findings show that common variants within this gene also influence normal craniofacial development. ..
  3. McBride D, Buckle A, van Heyningen V, Kleinjan D. DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region. PLoS ONE. 2011;6:e28616 pubmed publisher
  4. Hingorani M, Hanson I, van Heyningen V. Aniridia. Eur J Hum Genet. 2012;20:1011-7 pubmed publisher
    ..This article will review the clinical manifestations, the molecular basis including genotype-phenotype correlations, diagnostic approaches and management of aniridia. ..
  5. Wang Y, Rudnicki M. Satellite cells, the engines of muscle repair. Nat Rev Mol Cell Biol. 2011;13:127-33 pubmed publisher
    ..Recent experiments have suggested that PAX7 is dispensable in adult satellite cells. However, these findings are controversial, and the issue remains unresolved. ..
  6. Ruiz Llorente S, Carrillo Santa de Pau E, Sastre Perona A, Montero Conde C, Gomez Lopez G, Fagin J, et al. Genome-wide analysis of Pax8 binding provides new insights into thyroid functions. BMC Genomics. 2012;13:147 pubmed publisher
    ..of thyroid cells, we obtained transcriptional profiles of Pax8-silenced PCCl3 thyroid cells using whole genome expression arrays and integrated these signals with global cis-regulatory sequencing studies performed by ChIP-Seq analysis..
  7. Liu L, Wang Y, Wu J, Cui J, Chen T. Carnitine palmitoyltransferase 1A (CPT1A): a transcriptional target of PAX3-FKHR and mediates PAX3-FKHR-dependent motility in alveolar rhabdomyosarcoma cells. BMC Cancer. 2012;12:154 pubmed
    ..Taken together, we have identified CPT1A as a novel transcriptional target of PAX3-FKHR and revealed the novel function of CPT1A in promoting cell motility. CPT1A may represent a novel therapeutic target for the treatment of ARMS. ..
  8. Shaham O, Menuchin Y, Farhy C, Ashery Padan R. Pax6: a multi-level regulator of ocular development. Prog Retin Eye Res. 2012;31:351-76 pubmed publisher
    ..Pax6 functions at multiple levels to integrate extracellular information and execute cell-intrinsic differentiation programs that culminate in the specification and differentiation of a distinct ocular lineage. ..
  9. Soleimani V, Punch V, Kawabe Y, Jones A, Palidwor G, Porter C, et al. Transcriptional dominance of Pax7 in adult myogenesis is due to high-affinity recognition of homeodomain motifs. Dev Cell. 2012;22:1208-20 pubmed publisher
    ..Together, our data demonstrate distinct attributes of Pax7 function and provide mechanistic insight into the nonredundancy of Pax3 and Pax7 in muscle development. ..
  10. Djian Zaouche J, Campagne C, Reyes Gomez E, Gadin Czerw S, Bernex F, Louise A, et al. Pax3( GFP ) , a new reporter for the melanocyte lineage, highlights novel aspects of PAX3 expression in the skin. Pigment Cell Melanoma Res. 2012;25:545-54 pubmed publisher
    ..The Schwann cells and nestin-positive cells of the piloneural collars were FACS-isolated based on their weak expression of GFP. Thus Pax3(GFP) can discriminate distinct populations of cells in the skin. ..
  11. Bharti K, Gasper M, Ou J, Brucato M, Clore Gronenborn K, Pickel J, et al. A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development. PLoS Genet. 2012;8:e1002757 pubmed publisher
    ..The results suggest that careful manipulation of the Pax6 regulatory circuit may facilitate the generation of retinal and pigment epithelium cells from embryonic or induced pluripotent stem cells. ..
  12. Wang P, Sun W, Li S, Xiao X, Guo X, Zhang Q. PAX6 mutations identified in 4 of 35 families with microcornea. Invest Ophthalmol Vis Sci. 2012;53:6338-42 pubmed
    ..4% of microcorneas in this cohort. The findings not only expand the spectrum of PAX6 mutations, but also suggest that PAX6 mutations may be a common cause of microcornea. ..
  13. Manousaki T, Feiner N, Begemann G, Meyer A, Kuraku S. Co-orthology of Pax4 and Pax6 to the fly eyeless gene: molecular phylogenetic, comparative genomic, and embryological analyses. Evol Dev. 2011;13:448-59 pubmed publisher
    ..In this context, evolution of transcriptional regulation associated with the Pax4-Pax6 split is also discussed in light of the zebrafish pax4 expression pattern that is analyzed here for the first time. ..
  14. Rodriguez W, Jin L, Janssens V, Pierreux C, Hick A, Urizar E, et al. Deletion of the RNaseIII enzyme dicer in thyroid follicular cells causes hypothyroidism with signs of neoplastic alterations. PLoS ONE. 2012;7:e29929 pubmed publisher
    ..This suggests that miRNAs are mandatory to fine-tune the expression of thyroid specific genes and to maintain thyroid tissue homeostasis. ..
  15. Liu T, Zhao Y, Tang N, Feng R, Yang X, Lu N, et al. Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing. PLoS ONE. 2012;7:e46934 pubmed publisher
    ..We identified proSAAS as a novel down-regulated target of Pax6 in the regulation of glucose metabolism. This study also provides a complete molecular mechanism for the Pax6 deficiency-caused diabetes. ..
  16. Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, et al. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 2012;20:705-8 pubmed publisher
    ..The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly...
  17. Skapek S, Anderson J, Barr F, Bridge J, Gastier Foster J, Parham D, et al. PAX-FOXO1 fusion status drives unfavorable outcome for children with rhabdomyosarcoma: a children's oncology group report. Pediatr Blood Cancer. 2013;60:1411-7 pubmed publisher
    ..The Children's Oncology Group (COG) carried out a multi-institutional clinical trial to evaluate the prognostic value of PAX-FOXO1 fusion status...
  18. Christophe Hobertus C, Lefort A, Libert F, Christophe D. Functional inactivation of thyroid transcription factor-1 in PCCl3 thyroid cells. Mol Cell Endocrinol. 2012;358:36-45 pubmed publisher
    ..Our data thus extend the known roles of TTF-1 in thyroid development and in the expression of differentiated function in the adult organ to the control of epithelial morphology and of cell division in mature thyrocytes...
  19. Mort R, Bentley A, Martin F, Collinson J, Douvaras P, Hill R, et al. Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis. PLoS ONE. 2011;6:e28895 pubmed publisher
    ..This should prompt further investigations of the pathophysiology underlying human aniridia and ARK. ..
  20. Balaskas N, Ribeiro A, Panovska J, Dessaud E, Sasai N, Page K, et al. Gene regulatory logic for reading the Sonic Hedgehog signaling gradient in the vertebrate neural tube. Cell. 2012;148:273-84 pubmed publisher
    ..Our findings reveal that morphogen interpretation is an emergent property of the architecture of a transcriptional network that provides robustness and reliability to tissue patterning. ..
  21. Gosmain Y, Katz L, Masson M, Cheyssac C, Poisson C, Philippe J. Pax6 is crucial for ?-cell function, insulin biosynthesis, and glucose-induced insulin secretion. Mol Endocrinol. 2012;26:696-709 pubmed publisher
    ..We provide further evidence that Pax6 represents a key element of mature ?-cell function. ..
  22. Knösel T, Chen Y, Hotovy S, Settmacher U, Altendorf Hofmann A, Petersen I. Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma. Int J Colorectal Dis. 2012;27:1391-9 pubmed publisher
    ..Decreased expression of DSC1-3 is significantly correlated with higher tumor grading. Downregulation of DSC1 could be explained by DNA hypermethylation in colon cancer cells. ..
  23. Missiaglia E, Williamson D, Chisholm J, Wirapati P, Pierron G, Petel F, et al. PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification. J Clin Oncol. 2012;30:1670-7 pubmed publisher
    ..A continuous risk score derived from the combination of clinical parameters with the presence or absence of PAX3/FOXO1 represents a robust approach to improving current risk-adapted therapy for RMS. ..
  24. Garnett A, Square T, Medeiros D. BMP, Wnt and FGF signals are integrated through evolutionarily conserved enhancers to achieve robust expression of Pax3 and Zic genes at the zebrafish neural plate border. Development. 2012;139:4220-31 pubmed publisher
    ..Taken together, our results reveal how BMPs, FGFs and Wnts act cooperatively and redundantly through partially redundant enhancers to achieve robust, specific gene expression in the zebrafish NPB. ..
  25. Shaham O, Gueta K, Mor E, Oren Giladi P, Grinberg D, Xie Q, et al. Pax6 regulates gene expression in the vertebrate lens through miR-204. PLoS Genet. 2013;9:e1003357 pubmed publisher
    ..Collectively, this study identifies a novel evolutionarily conserved mechanism by which Pax6 controls the down-regulation of multiple genes through direct up-regulation of miR-204. ..
  26. Rowan S, Siggers T, Lachke S, Yue Y, Bulyk M, Maas R. Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity. Genes Dev. 2010;24:980-5 pubmed publisher
    ..Finally, we describe a mechanism whereby Pax6 levels are determined by transcriptional synergy of Prep1 bound to the two sites, while timing of enhancer activation is determined by binding site affinity. ..
  27. Wang Y, Pan Y, Cho C, Lin B, Su L, Huang Y, et al. A novel pax-like protein involved in transcriptional activation of cyst wall protein genes in Giardia lamblia. J Biol Chem. 2010;285:32213-26 pubmed publisher
    ..Our results indicate that the Pax family has been conserved during evolution, and Pax1 could up-regulate the key encystation-induced genes to regulate differentiation of the protozoan eukaryote, G. lamblia. ..
  28. Li C, Nyman J, Braithwaite A, Eccles M. PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein. Oncogene. 2011;30:4824-34 pubmed publisher
    ..Therefore, our results suggest that, in cancer, frequent and persistent expression of PAX8 is required for cell growth control through transcriptional activation of E2F1 expression and upregulation of the RB-E2F1 pathway. ..
  29. Ninkovic J, Pinto L, Petricca S, Lepier A, Sun J, Rieger M, et al. The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin ?A. Neuron. 2010;68:682-94 pubmed publisher
    ..Strikingly, Pax6 utilizes different DNA-binding domains for its well-known role in fate specification and this role of regulating the survival of specific neuronal subtypes in the mature, healthy brain. ..
  30. Medic S, Ziman M. PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas). PLoS ONE. 2010;5:e9977 pubmed publisher
    ..This role, possibly required for cellular response to environmental stimuli, may contribute to formation and development of melanocytic lesions in which PAX3 expression is prominent. ..
  31. Manuel M, Martynoga B, Molinek M, Quinn J, Kroemmer C, Mason J, et al. The transcription factor Foxg1 regulates telencephalic progenitor proliferation cell autonomously, in part by controlling Pax6 expression levels. Neural Dev. 2011;6:9 pubmed publisher
    ..We conclude that Foxg1 exerts control over telencephalic progenitor proliferation by cell autonomous mechanisms that include the regulation of Pax6, which itself is known to regulate proliferation cell autonomously in a regional manner. ..
  32. Fietz S, Kelava I, Vogt J, Wilsch Bräuninger M, Stenzel D, Fish J, et al. OSVZ progenitors of human and ferret neocortex are epithelial-like and expand by integrin signaling. Nat Neurosci. 2010;13:690-9 pubmed publisher
    ..Our findings suggest that maintenance of this epithelial property allows integrin-mediated, repeated asymmetric divisions of OSVZ progenitors, providing a basis for neocortical expansion. ..
  33. Holland L, Short S. Alternative splicing in development and function of chordate endocrine systems: a focus on Pax genes. Integr Comp Biol. 2010;50:22-34 pubmed publisher
  34. Larsen K, Lutterodt M, Laursen H, Graem N, Pakkenberg B, Møllgård K, et al. Spatiotemporal distribution of PAX6 and MEIS2 expression and total cell numbers in the ganglionic eminence in the early developing human forebrain. Dev Neurosci. 2010;32:149-62 pubmed publisher
    ..Further, MEIS2 was expressed at a very high level in the developing ganglionic eminence and at a more moderate level in the cortical plate. ..
  35. Di Palma T, Zampella E, Filippone M, Macchia P, Ris Stalpers C, De Vroede M, et al. Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. Clin Endocrinol (Oxf). 2010;73:808-14 pubmed publisher
    ..Our findings confirm the important role of PAX8 in normal thyroid development and support the evidence that in humans haploinsufficiency of PAX8 is associated with TD. ..
  36. Coutinho P, Pavlou S, Bhatia S, Chalmers K, Kleinjan D, van Heyningen V. Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res. 2011;21:1349-59 pubmed publisher
    ..We have identified several novel direct targets, including some putative disease genes, among them Foxp2; these will allow further dissection of Pax6 function in development and disease. ..
  37. Sato T, Rocancourt D, Marques L, Thorsteinsdóttir S, Buckingham M. A Pax3/Dmrt2/Myf5 regulatory cascade functions at the onset of myogenesis. PLoS Genet. 2010;6:e1000897 pubmed publisher
    ..These results reveal a novel genetic network, comprising a Pax3/Dmrt2/Myf5 regulatory cascade that operates in stem cells of the epaxial dermomyotome to initiate skeletal muscle formation. ..
  38. McKnight R, Cohen C, Siddiqui M. Utility of paired box gene 8 (PAX8) expression in fluid and fine-needle aspiration cytology: an immunohistochemical study of metastatic ovarian serous carcinoma. Cancer Cytopathol. 2010;118:298-302 pubmed publisher
  39. Suga H, Tschopp P, Graziussi D, Stierwald M, Schmid V, Gehring W. Flexibly deployed Pax genes in eye development at the early evolution of animals demonstrated by studies on a hydrozoan jellyfish. Proc Natl Acad Sci U S A. 2010;107:14263-8 pubmed publisher
    ..We then propose that during the early evolution of animals, distinct classes of Pax genes, which may have played redundant roles at that time, were flexibly deployed for eye development in different animal lineages. ..
  40. Carmona F, Ou J, Jimenez R, Collinson J. Development of the cornea of true moles (Talpidae): morphogenesis and expression of PAX6 and cytokeratins. J Anat. 2010;217:488-500 pubmed publisher
    ..In this mole species, adaptation to the arid, harder, Southern European soils could have favoured the transfer of these functions to the permanently sealed eyelids...
  41. Umeda T, Takashima N, Nakagawa R, Maekawa M, Ikegami S, Yoshikawa T, et al. Evaluation of Pax6 mutant rat as a model for autism. PLoS ONE. 2010;5:e15500 pubmed publisher
    ..Taken together with our prior human genetic data and results in other literatures, rSey(2)/+ rats likely have some phenotypic components of autism. ..
  42. Tacha D, Zhou D, Cheng L. Expression of PAX8 in normal and neoplastic tissues: a comprehensive immunohistochemical study. Appl Immunohistochem Mol Morphol. 2011;19:293-9 pubmed publisher
    ..PAX8 is a specific and sensitive marker for renal cell and ovarian carcinomas and should be a valuable addition to the histopathology laboratory. ..
  43. Cai F, Zhu J, Chen W, Ke T, Wang F, Tu X, et al. A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract. Mol Vis. 2010;16:1141-5 pubmed
    ..To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract...
  44. Charytonowicz E, Matushansky I, Castillo Martin M, Hricik T, Cordon Cardo C, Ziman M. Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis. Clin Transl Oncol. 2011;13:194-203 pubmed publisher
    ..More specifically, the Pax3c isoform may be required for terminal myogenic differentiation whereas the Pax3d isoform may be involved in undifferentiated cell maintenance and/or proliferation. ..
  45. Hu He K, Lorenzo P, Brun T, Jimenez Moreno C, Aeberhard D, Vallejo Ortega J, et al. In vivo conditional Pax4 overexpression in mature islet ?-cells prevents stress-induced hyperglycemia in mice. Diabetes. 2011;60:1705-15 pubmed publisher
    ..Furthermore, it promotes dedifferentiation and proliferation of ?-cells through MafA repression, with a concomitant increase in Cdk4 and c-myc expression. ..
  46. Shukla S, Mishra R. Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies. Exp Eye Res. 2011;93:40-9 pubmed publisher
    ..Thus, variable DNA-binding and transactivation properties of the mutants with different PAX6-binding sequences provide an insight towards their variable penetrance and expressivity. ..
  47. Mu D, Huang R, Ma X, Li S, Kuang A. Radioiodine therapy of thyroid carcinoma following Pax-8 gene transfer. Gene Ther. 2012;19:435-42 pubmed publisher
    ..Pax-8 gene transfection may lead to effective radioiodine therapy of tumor. ..
  48. Douvaras P, Webb S, Whitaker D, Dorà N, Hill R, Dorin J, et al. Rare corneal clones in mice suggest an age-related decrease of stem cell activity and support the limbal epithelial stem cell hypothesis. Stem Cell Res. 2012;8:109-19 pubmed publisher
    ..Pax6(+/-), KRT5(LacZ/-) corneas had small patches rather than stripes, which confirms that corneal maintenance is abnormal in Pax6(+/-) mice...
  49. Ahlqvist E, Turrini F, Lang S, Taneera J, Zhou Y, Almgren P, et al. A common variant upstream of the PAX6 gene influences islet function in man. Diabetologia. 2012;55:94-104 pubmed publisher
    ..These findings emphasise the central role of PAX6 in the regulation of islet function and glucose metabolism in man. ..
  50. Yamaguchi T, Miki Y, Yoshida K. The c-Abl tyrosine kinase stabilizes Pitx1 in the apoptotic response to DNA damage. Apoptosis. 2010;15:927-35 pubmed publisher
    ..Importantly, inhibition of c-Abl kinase activity substantially attenuates Pitx1-mediated apoptosis. These findings provide evidence that c-Abl participates in modulating Pitx1 expression in the apoptotic response to DNA damage. ..
  51. Li J, Abushahin N, Pang S, Xiang L, Chambers S, Fadare O, et al. Tubal origin of 'ovarian' low-grade serous carcinoma. Mod Pathol. 2011;24:1488-99 pubmed publisher
    ..Genetic and molecular studies are needed to further confirm this finding as tubal origination of ovarian serous cancers will have a significant impact on ovarian cancer prevention and management. ..
  52. Cheung H, Cowley G, Weir B, Boehm J, Rusin S, Scott J, et al. Systematic investigation of genetic vulnerabilities across cancer cell lines reveals lineage-specific dependencies in ovarian cancer. Proc Natl Acad Sci U S A. 2011;108:12372-7 pubmed publisher
    ..More generally, these observations demonstrate that the integration of genome-scale functional and structural studies provides an efficient path to identify dependencies of specific cancer types on particular genes and pathways. ..
  53. Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, et al. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. Eye (Lond). 2011;25:1581-9 pubmed publisher
    ..We studied the PAX6gene mutations in a cohort of affected individuals with different clinical phenotype including AN, coloboma of iris and choroid, or anterior segment malformations...