Gene Symbol: Pitx1
Description: paired-like homeodomain transcription factor 1
Alias: Bft, P-OTX, Potx, Ptx1, pituitary homeobox 1, hindlimb-expressed homeobox protein backfoot, homeobox protein P-OTX, homeobox protein PITX1, pituitary OTX-related factor
Species: mouse
Products:     Pitx1

Top Publications

  1. Cao H, Florez S, Amen M, Huynh T, Skobe Z, Baldini A, et al. Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21. Dev Biol. 2010;347:289-300 pubmed publisher
    ..These data demonstrate new functional mechanisms for Tbx1 in tooth morphogenesis and provide a molecular basis for craniofacial defects in DiGeorge syndrome patients. ..
  2. Lanctot C, Lamolet B, Drouin J. The bicoid-related homeoprotein Ptx1 defines the most anterior domain of the embryo and differentiates posterior from anterior lateral mesoderm. Development. 1997;124:2807-17 pubmed
    b>Ptx1 is a member of the small bicoid family of homeobox-containing genes; it was isolated as a tissue-restricted transcription factor of the pro-opiomelanocortin gene...
  3. Marcil A, Dumontier E, Chamberland M, Camper S, Drouin J. Pitx1 and Pitx2 are required for development of hindlimb buds. Development. 2003;130:45-55 pubmed
    Two closely related homeobox transcription factors, Pitx1 and Pitx2, have been implicated in patterning of lateral plate mesoderm derivatives: Pitx1 for specification of hindlimb identity and Pitx2 for determination of laterality...
  4. Tremblay J, Lanctot C, Drouin J. The pan-pituitary activator of transcription, Ptx1 (pituitary homeobox 1), acts in synergy with SF-1 and Pit1 and is an upstream regulator of the Lim-homeodomain gene Lim3/Lhx3. Mol Endocrinol. 1998;12:428-41 pubmed
    The Ptx1 (pituitary homeobox 1) homeobox transcription factor was isolated as a transcription factor of the pituitary POMC gene...
  5. Kawakami Y, Marti M, Kawakami H, Itou J, Quach T, Johnson A, et al. Islet1-mediated activation of the ?-catenin pathway is necessary for hindlimb initiation in mice. Development. 2011;138:4465-73 pubmed publisher
    ..Our study identifies Islet1 as a hindlimb-specific transcriptional regulator of initiation, and clarifies the controversy regarding the requirement of ?-catenin for limb initiation...
  6. Jeong J, Mao J, Tenzen T, Kottmann A, McMahon A. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev. 2004;18:937-51 pubmed
    ..Further, our analysis of Shh-Fox gene regulatory interactions leads us to propose that Fox genes mediate the action of Shh in facial development. ..
  7. Nakamura T, Nakagawa M, Ichisaka T, Shiota A, Yamanaka S. Essential roles of ECAT15-2/Dppa2 in functional lung development. Mol Cell Biol. 2011;31:4366-78 pubmed publisher
    ..These data suggest that ECAT15-2 has important roles in lung development, where it is no longer expressed, by leaving epigenetic marks from earlier developmental stages. ..
  8. Charles M, Suh H, Hjalt T, Drouin J, Camper S, Gage P. PITX genes are required for cell survival and Lhx3 activation. Mol Endocrinol. 2005;19:1893-903 pubmed
    The PITX family of transcription factors regulate the development of many organs. Pitx1 mutants have a mild pituitary phenotype, but Pitx2 is necessary for the development of Rathke's pouch, expression of essential transcription factors ..
  9. Qi D, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, et al. Identification of PITX1 as a TERT suppressor gene located on human chromosome 5. Mol Cell Biol. 2011;31:1624-36 pubmed publisher
    ..Here, we report the identification of PITX1, whose expression leads to the downregulation of mouse tert (mtert) transcription, as a TERT suppressor gene...

More Information


  1. Edlund R, Ohyama T, Kantarci H, Riley B, Groves A. Foxi transcription factors promote pharyngeal arch development by regulating formation of FGF signaling centers. Dev Biol. 2014;390:1-13 pubmed publisher
    ..Our results suggest that Foxi3 may play a role in the establishment of signaling centers in the branchial arches that are required for neural crest survival, patterning and the subsequent development of branchial arch derivatives. ..
  2. Brunskill E, Potter A, Distasio A, Dexheimer P, Plassard A, Aronow B, et al. A gene expression atlas of early craniofacial development. Dev Biol. 2014;391:133-46 pubmed publisher
  3. Zhao X, Sirbu I, Mic F, Molotkova N, Molotkov A, Kumar S, et al. Retinoic acid promotes limb induction through effects on body axis extension but is unnecessary for limb patterning. Curr Biol. 2009;19:1050-7 pubmed publisher
  4. Semina E, Murray J, Reiter R, Hrstka R, Graw J. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet. 2000;9:1575-85 pubmed
    ..These lines of evidence suggest that the abnormal ocular development in the aphakia mouse is due to the deletion upstream of the Pitx3 gene...
  5. Taguchi S, Tagawa K, Humphreys T, Nishino A, Satoh N, Harada Y. Characterization of a hemichordate fork head/HNF-3 gene expression. Dev Genes Evol. 2000;210:11-7 pubmed
    ..A comparison of the pattern of PfHNF3 with that of HNF-3 genes of sea urchin, ascidian, amphioxus and vertebrate suggests a possible acquisition of new functions of the gene during deuterostome evolution. ..
  6. Ellsworth B, Butts D, Camper S. Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. Dev Biol. 2008;313:118-29 pubmed
  7. Naiche L, Papaioannou V. Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois. Development. 2003;130:2681-93 pubmed
  8. Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Farinas I, et al. SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. Cell. 2006;125:971-86 pubmed
    ..Thus, SATB2 acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation...
  9. Matsuyama M, Aizawa S, Shimono A. Sfrp controls apicobasal polarity and oriented cell division in developing gut epithelium. PLoS Genet. 2009;5:e1000427 pubmed publisher
    ..We propose that Sfrp regulation of Wnt5a signaling controls oriented cell division and apicobasal polarity in the epithelium of developing gut. ..
  10. Castinetti F, Brinkmeier M, Gordon D, Vella K, Kerr J, Mortensen A, et al. PITX2 AND PITX1 regulate thyrotroph function and response to hypothyroidism. Mol Endocrinol. 2011;25:1950-60 pubmed publisher
    ..The pituitary levels of Pitx1 transcripts are significantly increased, suggesting a compensatory mechanism...
  11. Brinkmeier M, Potok M, Davis S, Camper S. TCF4 deficiency expands ventral diencephalon signaling and increases induction of pituitary progenitors. Dev Biol. 2007;311:396-407 pubmed
    ..Thus, TCF4 is necessary both intrinsically and extrinsically to Rathke's pouch to ensure the proper growth of the pituitary gland. ..
  12. Sopher B, Koszdin K, McClain M, Myrick S, Martinez R, Smith A, et al. Genomic organization, chromosome location, and expression analysis of mouse beta-synuclein, a candidate for involvement in neurodegeneration. Cytogenet Cell Genet. 2001;93:117-23 pubmed
    ..Knowledge of the genomic organization and expression pattern of Sncb will allow functional studies of its potential role in neurodegeneration to commence in the mouse. ..
  13. Crawford M, Lanctot C, Tremblay J, Jenkins N, Gilbert D, Copeland N, et al. Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. Mamm Genome. 1997;8:841-5 pubmed
    b>Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies...
  14. Bach I, Rodriguez Esteban C, Carriere C, Bhushan A, Krones A, Rose D, et al. RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex. Nat Genet. 1999;22:394-9 pubmed
    ..We conclude that Rlim is a novel corepressor that recruits histone deacetylase-containing complexes to the LIM domain. ..
  15. Zacchetti G, Duboule D, Zakany J. Hox gene function in vertebrate gut morphogenesis: the case of the caecum. Development. 2007;134:3967-73 pubmed
    ..This effect is concurrent with a dramatic reduction of both Fgf10 and Pitx1 expression...
  16. Liu W, Selever J, Murali D, Sun X, Brugger S, Ma L, et al. Threshold-specific requirements for Bmp4 in mandibular development. Dev Biol. 2005;283:282-93 pubmed
    ..Lastly, we provide evidence that Prx homeobox genes repress expression of an Msx2 transgene, previously shown to be Bmp4-responsive, revealing a mechanism for differential regulation of Msx1 and Msx2 by Bmp signaling. ..
  17. De Langhe S, Carraro G, Tefft D, Li C, Xu X, Chai Y, et al. Formation and differentiation of multiple mesenchymal lineages during lung development is regulated by beta-catenin signaling. PLoS ONE. 2008;3:e1516 pubmed publisher
    ..Strikingly, the Dermo1(Cre/+); beta-catenin(f/-) conditional Knock Out embryos largely phenocopy Pitx1(-/-)/Pitx2(-/-) double knockout embryos, suggesting that ss-catenin signaling in the mesenchyme depends mostly on ..
  18. Infante C, Park S, Mihala A, Kingsley D, Menke D. Pitx1 broadly associates with limb enhancers and is enriched on hindlimb cis-regulatory elements. Dev Biol. 2013;374:234-44 pubmed publisher
    Extensive functional analyses have demonstrated that the pituitary homeodomain transcription factor Pitx1 plays a critical role in specifying hindlimb morphology in vertebrates...
  19. Zhao Y, Mailloux C, Hermesz E, Palkóvits M, Westphal H. A role of the LIM-homeobox gene Lhx2 in the regulation of pituitary development. Dev Biol. 2010;337:313-23 pubmed publisher
  20. Lamba P, Khivansara V, D Alessio A, Santos M, Bernard D. Paired-like homeodomain transcription factors 1 and 2 regulate follicle-stimulating hormone beta-subunit transcription through a conserved cis-element. Endocrinology. 2008;149:3095-108 pubmed publisher
    ..We observed that endogenous PITX1 and PITX2 isoforms from murine LbetaT2 gonadotrope cells could bind a highly conserved proximal cis-element...
  21. Jeong K, Chin W, Kaiser U. Essential role of the homeodomain for pituitary homeobox 1 activation of mouse gonadotropin-releasing hormone receptor gene expression through interactions with c-Jun and DNA. Mol Cell Biol. 2004;24:6127-39 pubmed
    ..b>Pituitary homeobox 1 (Pitx-1) has been shown to activate pituitary-specific gene expression by direct DNA binding and/or protein-..
  22. Suh H, Gage P, Drouin J, Camper S. Pitx2 is required at multiple stages of pituitary organogenesis: pituitary primordium formation and cell specification. Development. 2002;129:329-37 pubmed
    ..The related Pitx1 gene has a role in hormone gene transcription, and it is important late in ontogeny for the final expansion of the ..
  23. DeLaurier A, Schweitzer R, Logan M. Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb. Dev Biol. 2006;299:22-34 pubmed
    ..which are expressed in the forelimb and hindlimb, respectively, and a paired-type homeodomain transcription factor Pitx1, expressed in the hindlimb...
  24. Evans A, Gage P. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet. 2005;14:3347-59 pubmed
    ..We propose a revised model of optic nerve development and new mechanisms that may underlie the etiology of glaucoma in Axenfeld-Rieger patients. ..
  25. Keyte A, Smith K. Developmental origins of precocial forelimbs in marsupial neonates. Development. 2010;137:4283-94 pubmed publisher
    ..Our results show a surprising evolutionary flexibility in the early limb development program of amniotes and rule out the induction of the limb fields by mature structures such as the somites or mesonephros...
  26. Goodyer C, Tremblay J, Paradis F, Marcil A, Lanctôt C, Gauthier Y, et al. Pitx1 in vivo promoter activity and mechanisms of positive autoregulation. Neuroendocrinology. 2003;78:129-37 pubmed
    During early mouse embryogenesis, Pitx1 (pituitary homeobox 1), a member of the bicoid subgroup of PAIRED homeobox-containing transcription factors, marks the stomodeum, oral ectoderm, pituitary and first branchial arch in the anterior ..
  27. Garrido Allepuz C, González Lamuño D, Ros M. Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations. PLoS ONE. 2012;7:e44962 pubmed publisher
    ..Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia. ..
  28. Jin M, Tanaka S, Sekino Y, Ren Y, Yamazaki H, Kawai Hirai R, et al. A novel, brain-specific mouse drebrin: cDNA cloning, chromosomal mapping, genomic structure, expression, and functional characterization. Genomics. 2002;79:686-92 pubmed
    ..These findings suggest that s-drebrin A has a role in spine morphogenesis, possibly by competing the actin-binding activity with drebrin A. ..
  29. Kioussi C, Briata P, Baek S, Wynshaw Boris A, Rose D, Rosenfeld M. Pitx genes during cardiovascular development. Cold Spring Harb Symp Quant Biol. 2002;67:81-7 pubmed
  30. Kenny D, Jurata L, Saga Y, Gill G. Identification and characterization of LMO4, an LMO gene with a novel pattern of expression during embryogenesis. Proc Natl Acad Sci U S A. 1998;95:11257-62 pubmed
    ..Mesenchymal and thymic blast cell expression patterns of LMO4 and LMO2 are consistent with the suggestion that LMO genes inhibit differentiation. ..
  31. Dassule H, Lewis P, Bei M, Maas R, McMahon A. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development. 2000;127:4775-85 pubmed
    ..These studies demonstrate that Shh regulates growth and determines the shape of the tooth. However, Shh signaling is not essential for differentiation of ameloblasts or odontoblasts. ..
  32. Depew M, Lufkin T, Rubenstein J. Specification of jaw subdivisions by Dlx genes. Science. 2002;298:381-5 pubmed
    ..We suggest that nested Dlx expression in the arches patterns their proximodistal axes. Evolutionary acquisition and subsequent refinement of jaws may have been dependent on modification of Dlx expression. ..
  33. Schubert S, Kardash E, Khan M, Cheusova T, Kilian K, Wegner M, et al. Interaction, cooperative promoter modulation, and renal colocalization of GCMa and Pitx2. J Biol Chem. 2004;279:50358-65 pubmed
    ..This is the first description of a regulatory cross-talk between a transcription factor of the GCM family and a homeodomain protein. ..
  34. O Rourke M, Soo K, Behringer R, Hui C, Tam P. Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev Biol. 2002;248:143-56 pubmed
    ..Twist activity is therefore essential for the growth and differentiation of the limb bud tissues as well as regulation of tissue patterning via the modulation of SHH and FGF signal transduction. ..
  35. Aggarwal V, Carpenter C, Freyer L, Liao J, Petti M, Morrow B. Mesodermal Tbx1 is required for patterning the proximal mandible in mice. Dev Biol. 2010;344:669-81 pubmed publisher
    ..5. This occurs without significant changes in cell proliferation or apoptosis at the same stage. Our results elucidate a new function for the non-neural crest core mesoderm and specifically, mesodermal Tbx1, in shaping the lower jaw. ..
  36. Rallis C, Bruneau B, Del Buono J, Seidman C, Seidman J, Nissim S, et al. Tbx5 is required for forelimb bud formation and continued outgrowth. Development. 2003;130:2741-51 pubmed
    ..Moreover, our results also demonstrate that limb bud outgrowth and specification of limb identity are linked by a requirement for Tbx5. ..
  37. Lanctot C, Moreau A, Chamberland M, Tremblay M, Drouin J. Hindlimb patterning and mandible development require the Ptx1 gene. Development. 1999;126:1805-10 pubmed
    The restricted expression of the Ptx1 (Pitx1) gene in the posterior half of the lateral plate mesoderm has suggested that it may play a role in specification of posterior structures, in particular, specification of hindlimb identity...
  38. Nam J, Park E, Turcotte T, Palencia S, Zhan X, Lee J, et al. Mouse R-spondin2 is required for apical ectodermal ridge maintenance in the hindlimb. Dev Biol. 2007;311:124-35 pubmed
    ..Our findings strongly suggest that Rspo2 expression in the AER is required for AER maintenance likely by regulating Wnt/beta-catenin signaling. ..
  39. Butterfield N, Qian C, Logan M. Pitx1 determines characteristic hindlimb morphologies in cartilage micromass culture. PLoS ONE. 2017;12:e0180453 pubmed publisher
    ..characteristic hindlimb nodule morphology is lost in the absence of the hindlimb-restricted limb modifier gene Pitx1. Furthermore, we show that ectopic expression of Pitx1 in the forelimb is sufficient to generate nodule patterns ..
  40. St Amand T, Zhang Y, Semina E, Zhao X, Hu Y, Nguyen L, et al. Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth-forming anlage. Dev Biol. 2000;217:323-32 pubmed
    ..In this study, we examined the expression and regulation of Pitx1 and Pitx2 during mouse tooth development...
  41. Ozeki H, Kurihara Y, Tonami K, Watatani S, Kurihara H. Endothelin-1 regulates the dorsoventral branchial arch patterning in mice. Mech Dev. 2004;121:387-95 pubmed
    ..genes determining the ventral identity of the anterior branchial arches, and of the mandibular marker gene Pitx1 is significantly downregulated in the ET-1(-/-) mutant, whereas the expression of Dlx2 and the maxillary marker ..
  42. Duboc V, Logan M. Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control. Development. 2011;138:5301-9 pubmed publisher
    The forelimbs and hindlimbs of vertebrates are morphologically distinct. Pitx1, expressed in the hindlimb bud mesenchyme, is required for the formation of hindlimb characteristics and produces hindlimb-like morphologies when misexpressed ..
  43. Alvarado D, McCall K, Aferol H, Silva M, Garbow J, Spees W, et al. Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Hum Mol Genet. 2011;20:3943-52 pubmed publisher
    ..We recently identified a missense mutation in the PITX1 bicoid homeodomain transcription factor in a family with a spectrum of lower extremity abnormalities, including ..
  44. 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
    ..Here we demonstrate that the expression of human pituitary homeobox 1 (Pitx1) transcription factor is increased after DNA damage...
  45. Smith T, Wang X, Zhang W, Kulyk W, Nazarali A. Hoxa2 plays a direct role in murine palate development. Dev Dyn. 2009;238:2364-73 pubmed publisher
    ..Hoxa2 also repressed the expression of its downstream targets Msx1, Bmp4, Barx1, and Ptx1 within the palate...
  46. Liu W, Selever J, Lu M, Martin J. Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration. Development. 2003;130:6375-85 pubmed
    ..Moreover, our results uncover a new function of Pitx2 in regulation of cell motility in craniofacial development. ..
  47. Lanctot C, Gauthier Y, Drouin J. Pituitary homeobox 1 (Ptx1) is differentially expressed during pituitary development. Endocrinology. 1999;140:1416-22 pubmed
    b>Pituitary homeobox 1 (Ptx1) is a homeodomain-containing transcription factor acting on transcription of all pituitary hormone genes...
  48. Kitamura K, Miura H, Yanazawa M, Miyashita T, Kato K. Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation. Mech Dev. 1997;67:83-96 pubmed
    ..Each homeobox gene was also expressed regionally in the nucleus, suggesting that the nucleus is comprised of subdivisions. ..
  49. Szeto D, Ryan A, O Connell S, Rosenfeld M. P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development. Proc Natl Acad Sci U S A. 1996;93:7706-10 pubmed
    ..Therefore, P-OTX may subserve functions in generating both precursor and specific cell phenotypes in the anterior pituitary gland and in several other organs. ..
  50. Barron F, Woods C, Kuhn K, Bishop J, Howard M, Clouthier D. Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis. Development. 2011;138:2249-59 pubmed publisher
    ..Hand2 thus appears to establish a distal mandibular arch domain that is conducive for lower jaw development, including the initiation of tongue mesenchyme morphogenesis. ..
  51. Aires R, Jurberg A, Leal F, Novoa A, Cohn M, Mallo M. Oct4 Is a Key Regulator of Vertebrate Trunk Length Diversity. Dev Cell. 2016;38:262-74 pubmed publisher
  52. McCracken K, Aihara E, Martin B, Crawford C, Broda T, Treguier J, et al. Wnt/β-catenin promotes gastric fundus specification in mice and humans. Nature. 2017;541:182-187 pubmed publisher
    ..hFGOs are a powerful model for studying the development of the human fundus and the molecular bases of human gastric physiology and pathophysiology, and also represent a new platform for drug discovery. ..
  53. Nemec S, Luxey M, Jain D, Huang Sung A, Pastinen T, Drouin J. Pitx1 directly modulates the core limb development program to implement hindlimb identity. Development. 2017;144:3325-3335 pubmed publisher
    ..i>Pitx1, a transcription factor gene with expression restricted to HL and absent from FL, plays an important role in ..
  54. Muccielli M, Martinez S, Pattyn A, Goridis C, Brunet J. Otlx2, an Otx-related homeobox gene expressed in the pituitary gland and in a restricted pattern in the forebrain. Mol Cell Neurosci. 1996;8:258-71 pubmed
    ..Finally, Otlx2 is expressed from the earliest morphogenetic events in the Rathke's pouch, the anlage of the adenohypophysis, an expression site shared by a very close homologue, Otlx1/Ptx1/P-Otx.
  55. Liu J, Lin C, Gleiberman A, Ohgi K, Herman T, Huang H, et al. Tbx19, a tissue-selective regulator of POMC gene expression. Proc Natl Acad Sci U S A. 2001;98:8674-9 pubmed
    ..It is suggested that Tbx19, depending on the presence of synergizing transcription factors, can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters. ..
  56. Vieux Rochas M, Mantero S, Heude E, Barbieri O, Astigiano S, Couly G, et al. Spatio-temporal dynamics of gene expression of the Edn1-Dlx5/6 pathway during development of the lower jaw. Genesis. 2010;48:262-373 pubmed publisher
    ..More in general, our findings emphasize the importance of quantitative gene expression in the fine control of morphogenetic events. ..
  57. Cushman L, Camper S. Molecular basis of pituitary dysfunction in mouse and human. Mamm Genome. 2001;12:485-94 pubmed
  58. Akiyama R, Kawakami H, Taketo M, Evans S, Wada N, Petryk A, et al. Distinct populations within Isl1 lineages contribute to appendicular and facial skeletogenesis through the ?-catenin pathway. Dev Biol. 2014;387:37-48 pubmed publisher
  59. Matsumaru D, Haraguchi R, Moon A, Satoh Y, Nakagata N, Yamamura K, et al. Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation. Eur J Hum Genet. 2014;22:350-7 pubmed publisher
    ..Moreover, Hh gain-of-function mutants phenocopied some of these phenotypes. These observations reveal novel information regarding the pathogenic mechanisms of syndromic lower ventral body malformations, which are largely unknown. ..
  60. Trumpp A, Depew M, Rubenstein J, Bishop J, Martin G. Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch. Genes Dev. 1999;13:3136-48 pubmed
    ..Because the mutant mice resemble humans with first arch syndromes that include agnathia, our results raise the possibility that some of these syndromes are caused by mutations that affect FGF8 signaling in BA1 ectoderm...
  61. Jacobs S, Coss D, McGillivray S, Mellon P. Nuclear factor Y and steroidogenic factor 1 physically and functionally interact to contribute to cell-specific expression of the mouse Follicle-stimulating hormone-beta gene. Mol Endocrinol. 2003;17:1470-83 pubmed
    ..This study is the first to demonstrate the presence of basal FSH beta protein in L beta T2 cells and to identify specific elements within the FSH beta promoter that contribute to basal and cell-specific expression of the gene. ..
  62. Potter M, Wax J, Jones G. Indomethacin is a potent inhibitor of pristane and plastic disc induced plasmacytomagenesis in a hypersusceptible BALB/c congenic strain. Blood. 1997;90:260-9 pubmed
  63. Davis S, Camper S. Noggin regulates Bmp4 activity during pituitary induction. Dev Biol. 2007;305:145-60 pubmed
    ..This work demonstrates the importance of attenuating the activity of Bmp signaling during pituitary induction in order to maintain the proper balance of signaling factors necessary for pituitary organogenesis. ..
  64. Shang J, Luo Y, Clayton D. Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb. Dev Dyn. 1997;209:242-53 pubmed
    ..Bft is likely identical to a mouse gene, Ptx1, that was recently isolated by Lamonerie et al. ([1996] Genes Dev...
  65. Porntaveetus T, Ohazama A, Choi H, Herz J, Sharpe P. Wnt signaling in the murine diastema. Eur J Orthod. 2012;34:518-24 pubmed publisher
    ..Wnt signaling is thus usually attenuated in the diastema by these secreted and membrane bound Wnt inhibitors...
  66. Kioussi C, O Connell S, St Onge L, Treier M, Gleiberman A, Gruss P, et al. Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development. Proc Natl Acad Sci U S A. 1999;96:14378-82 pubmed
    ..We suggest that the transient dorsal expression of Pax6 is essential for establishing a sharp boundary between dorsal and ventral cell types, based on the inhibition of Shh ventral signals. ..
  67. Juriloff D, Gunn T, Harris M, Mah D, Wu M, Dewell S. Multifactorial genetics of exencephaly in SELH/Bc mice. Teratology. 2001;64:189-200 pubmed
    ..The high risk of exencephaly in SELH/Bc mice is caused by the cumulative effect of two to three semidominant genes. Candidate genes include Msx2, Madh5, Ptch, and Irx1 (Chr 13) and Actb and Rac1 (Chr 5). ..
  68. Mitsiadis T, Graf D, Luder H, Gridley T, Bluteau G. BMPs and FGFs target Notch signalling via jagged 2 to regulate tooth morphogenesis and cytodifferentiation. Development. 2010;137:3025-35 pubmed publisher
    ..Together, these results demonstrate that Notch signalling mediated by Jag2 is indispensable for normal tooth development...
  69. Minguillon C, Del Buono J, Logan M. Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev Cell. 2005;8:75-84 pubmed
    ..between forelimbs and hindlimbs are thought to be regulated by Tbx5 expressed in the forelimb and Tbx4 and Pitx1 expressed in the hindlimb...
  70. Bobola N, Carapuco M, Ohnemus S, Kanzler B, Leibbrandt A, Neubüser A, et al. Mesenchymal patterning by Hoxa2 requires blocking Fgf-dependent activation of Ptx1. Development. 2003;130:3403-14 pubmed
    ..Using a subtraction approach, we found that Ptx1 was upregulated in the second arch mesenchyme of Hoxa2 mutants...
  71. Treier M, Gleiberman A, O Connell S, Szeto D, McMahon J, McMahon A, et al. Multistep signaling requirements for pituitary organogenesis in vivo. Genes Dev. 1998;12:1691-704 pubmed
  72. Repetto E, Briata P, Kuziner N, Harfe B, McManus M, Gherzi R, et al. Let-7b/c enhance the stability of a tissue-specific mRNA during mammalian organogenesis as part of a feedback loop involving KSRP. PLoS Genet. 2012;8:e1002823 pubmed publisher
    ..Our study unveils a functional crosstalk between miRNA- and AMD-dependent gene regulation during mammalian organogenesis events. ..
  73. Kitazawa T, Fujisawa K, Narboux Nême N, Arima Y, Kawamura Y, Inoue T, et al. Distinct effects of Hoxa2 overexpression in cranial neural crest populations reveal that the mammalian hyomandibular-ceratohyal boundary maps within the styloid process. Dev Biol. 2015;402:162-74 pubmed publisher
    ..The present findings suggest context-dependent function of Hoxa2 in CNCC regional specification and morphogenesis, and provide novel insights into the evolution of taxa-specific patterning of PA-derived structures. ..
  74. Beverdam A, Merlo G, Paleari L, Mantero S, Genova F, Barbieri O, et al. Jaw transformation with gain of symmetry after Dlx5/Dlx6 inactivation: mirror of the past?. Genesis. 2002;34:221-7 pubmed
    ..Our finding supports the notion that Dlx genes are homeotic genes associated with morphological novelty in the vertebrate lineage. ..
  75. Raetzman L, Ward R, Camper S. Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia. Development. 2002;129:4229-39 pubmed
    ..Thus, Lhx4 and Prop1 have critical, but mechanistically different roles in specification and expansion of specialized anterior pituitary cells. ..
  76. Liao X, Collins M. All-trans retinoic acid-induced ectopic limb and caudal structures: murine strain sensitivities and pathogenesis. Dev Dyn. 2008;237:1553-64 pubmed publisher
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