Genomes and Genes
Gene Symbol: Pax1
Description: paired box 1
Alias: Pax-1, hbs, hunchback, undulated, paired box protein Pax-1, paired box gene 1, wavy tail
Publications121 found, 100 shown here
- Murine developmental control genesM Kessel
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, FRG
Science 249:374-9. 1990..Models derived from these studies can reveal the successive steps of developmental control on a genetic level...
- Effects of excess vitamin A on development of cranial neural crest-derived structures: a neonatal and embryologic studyG B Mulder
University Laboratory Animal Resources, University of California, Irvine, California 92697, USA
Teratology 62:214-26. 2000..Our prior studies with retinoic acid have established that gestational day (gd) 9 is a sensitive embryonic age in the mouse for inducing craniofacial and thymic defects...
- Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformationsPaulus H L J Joosten
Department of Cell Biology, Faculty of Science, Radboud University Nijmegen, The Netherlands
Transgenic Res 14:983-7. 2005..study we have investigated the phenotype of E2a null mutant mice that are also heterozygous for the so-called undulated mutation in Pax1...
- Cooperative activity of noggin and gremlin 1 in axial skeleton developmentDavid A Stafford
Department of Molecular and Cell Biology and Center for Integrative Genomics, University of California, Berkeley, CA 94720, USA
Development 138:1005-14. 2011..We confirmed reduction of Pax1 and Pax9 expression in Nog mutants, but found that Nog;Grem1 double mutants completely fail to initiate sclerotome ..
- The molecular basis of the undulated/Pax-1 mutationG Chalepakis
Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Federal Republic of Germany
Cell 66:873-84. 1991The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column...
- undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1R Balling
Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, Federal Republic of Germany
Cell 55:531-5. 1988b>undulated (un) homozygous mice exhibit vertebral malformations along the entire rostro-caudal axis...
- α5β1 integrin-mediated adhesion to fibronectin is required for axis elongation and somitogenesis in miceAmparo Girós
Departament de Bioquimica i Biologia Molecular, Universitat de Valencia, Burjassot, Spain
PLoS ONE 6:e22002. 2011..Thus, α5β1-mediated adhesion to FN in the PSM regulates the dynamics of membrane protrusions and cell-to-cell communication essential for elongation and segmentation of the body axis...
- undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structuresS Dietrich
Abteilung für Moleculare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Federal Republic of Germany
Dev Biol 167:529-48. 1995b>undulated extensive mice carry a deletion of at least 28.2 kb, removing the terminal Pax-1 exon including the poly(A) signal. This mutation leads to a drastically reduced amount of Pax-1 transcript...
- Compartmentalised expression of Delta-like 1 in epithelial somites is required for the formation of intervertebral jointsIngeborg Teppner
GSF National Research Center for Environment and Health, GmbH, Institute of Experimental Genetics, Neuherberg, Germany
BMC Dev Biol 7:68. 2007..We did this by overexpressing a functional copy of the Dll1 gene throughout the paraxial mesoderm, in particular in anterior somite compartments, during somitogenesis in transgenic mice...
- A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebraeH Koseki
Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
Development 119:649-60. 1993..The Sd gene is known to interact with undulated (un), a sclerotome mutant...
- Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiationN Tsumaki
Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA
J Cell Biol 144:161-73. 1999..These results indicate that CDMP-1 antagonizes the ventralization signals from the notochord. Our study suggests a molecular mechanism by which CDMP-1 regulates the formation, growth, and differentiation of the skeletal elements...
- Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1A Neubüser
GSF Forschungszentrum für Umwelt and Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Oberschleissheim, Federal Republic of Germany
Dev Biol 170:701-16. 1995..We analyzed the expression of Pax9 during embryogenesis of wildtype, Undulated short-tail (Uns), and Danforth's short tail (Sd) mice...
- The role of Pax-1 in axial skeleton developmentJ Wallin
Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, FRG
Development 120:1109-21. 1994..single amino-acid substitution in the transcriptional regulator Pax-1 as the cause of the mouse skeletal mutant undulated (un)...
- Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamilyE E Storm
Department of Developmental Biology, Beckman Center, Stanford University School of Medicine, California 94305 5427
Nature 368:639-43. 1994..The highly specific skeletal alterations in bp and short ear mice suggest that different members of the BMP family control the formation of different morphological features in the mammalian skeleton...
- Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturationJ Wallin
Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
Development 122:23-30. 1996..Mutations in the Pax-1 gene in undulated mice affect not only the total size of the thymus but also the maturation of thymocytes...
- Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene functionC Chiang
Laboratory of Mammalian Genes and Development, National Institute of Health, Bethesda, Maryland 20892, USA
Nature 383:407-13. 1996..Defects in all tissues extend beyond the normal sites of Shh transcription, confirming the proposed role of Shh proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centres...
- Requirement of the paraxis gene for somite formation and musculoskeletal patterningR Burgess
Lexicon Genetics Inc, The Woodlands, Texas 77381, USA
Nature 384:570-3. 1996..These results demonstrate that paraxis regulates somite morphogenesis, and that the function of somites is to pattern the axial skeleton and skeletal muscles...
- Maintenance of somite borders in mice requires the Delta homologue DII1M Hrabe de Angelis
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Nature 386:717-21. 1997....
- Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesodermP C Wong
Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nature 387:288-92. 1997..Hence, PS1 is required for the spatiotemporal expression of Notch1 and Dll1, which are essential for somite segmentation and maintenance of somite borders...
- Paired-related murine homeobox gene expressed in the developing sclerotome, kidney, and nervous systemA Mansouri
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Germany
Dev Dyn 210:53-65. 1997..The temporal and spatial expression pattern suggests that Uncx4.1 may play an important role in kidney development and in the differentiation of the sclerotome and the nervous system...
- Mesodermal defects and cranial neural crest apoptosis in alpha5 integrin-null embryosK L Goh
Center for Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge 02139, USA
Development 124:4309-19. 1997....
- Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiencyB Wilm
GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany
Proc Natl Acad Sci U S A 95:8692-7. 1998..Previous studies have shown that three natural Pax1 mouse mutants, the undulated alleles, exhibit phenotypes of different severity in these skeletal elements...
- lunatic fringe is an essential mediator of somite segmentation and patterningY A Evrard
Department of Biochemistry and Molecular Biology and Program in Genes and Development, University of Texas, M D Anderson Cancer Center, Houston 77030, USA
Nature 394:377-81. 1998....
- Wnt3a-/--like phenotype and limb deficiency in Lef1(-/-)Tcf1(-/-) miceJ Galceran
Howard Hughes Medical Institute and Departments of Microbiology and Biochemistry, University of California, San Francisco, California 94143, USA
Genes Dev 13:709-17. 1999..Together, these data provide evidence for a redundant role of LEF-1 and TCF-1 in Wnt signaling during mouse development...
- Interaction between Notch signalling and Lunatic fringe during somite boundary formation in the mouseI B Barrantes
Amgen Institute, Ontario Cancer Institute, Departments of Medical Biophysics and Immunology University of Toronto 620 University Avenue, Toronto, Ontario, M5G 2C1, Canada
Curr Biol 9:470-80. 1999....
- Pax1 and Pax9 synergistically regulate vertebral column developmentH Peters
GSF Research Center for Environment and Health, Institute of Mammalian Genetics, Germany
Development 126:5399-408. 1999The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family...
- Uncx4.1 is required for the formation of the pedicles and proximal ribs and acts upstream of Pax9A Mansouri
Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D 37077 Gottingen, Germany
Development 127:2251-8. 2000..The loss of proximal ribs in Pax1/Pax9 double mutants and the data presented here argue for a role of Uncx4...
- Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesisD Su
Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, Georgia 30912, USA
Dev Biol 236:316-29. 2001..this unique process in which two distinct organs form from a single primordium, using mice mutant for Hoxa3 and Pax1. Thymic ectopia in Hoxa3(+/-)Pax1(-/-) compound mutants is due to delayed separation of the thymus/parathyroid ..
- Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse nodeX M Zhang
Department of Molecular and Cellular Biology, The Biolabs, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA
Cell 106:781-92. 2001..Further, we demonstrate an absolute requirement for Hedgehog signaling in sclerotomal development and a role in cardiac morphogenesis...
- A somitic compartment of tendon progenitorsAva E Brent
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Cell 113:235-48. 2003..The tendon progenitors are induced at the sclerotome's edge, at the expense of skeletogenic Pax1 positive cells and in response to FGF signaling in the adjacent myotome...
- The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartmentsMarkus Bussen
Institut fur Molekularbiologie, Medizinische Hochschule Hannover, 30625 Hannover, Germany
Genes Dev 18:1209-21. 2004..In summary, Tbx18 appears to act downstream of Mesp2 and Delta/Notch signaling to maintain the separation of anterior and posterior somite compartments...
- LEF1-mediated regulation of Delta-like1 links Wnt and Notch signaling in somitogenesisJuan Galceran
Gene Center and Institute of Biochemistry, University of Munich, 81377 Munich, Germany
Genes Dev 18:2718-23. 2004..Finally, the induced expression of LEF1-beta-catenin activates the expression of endogenous Dll1 in fibroblastic cells. Thus, Wnt signaling can affect the Notch pathway by a LEF1-mediated regulation of Dll1...
- Sonic hedgehog is required for cardiac outflow tract and neural crest cell developmentI Washington Smoak
North Carolina State University, Raleigh, 27695, USA
Dev Biol 283:357-72. 2005..Our data suggest that SHH signaling does not act directly on NCCs as a survival factor, but rather acts to restrict the domains that NCCs can populate during early stages (e8.5-10.5) of cardiovascular and craniofacial development...
- Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodiesLiselotte Sonnesen
Department of Orthodontics, Institute of Odontology, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
Spine (Phila Pa 1976) 33:1622-6. 2008..Immunohistochemical analyses on the axial skeleton from wild type mice...
- Embryonic expression of cyclooxygenase-2 causes malformations in axial skeletonMinsub Shim
Laboratory of Molecular Carcinogenesis, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
J Biol Chem 285:16206-17. 2010..Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology...
- Hedgehog signaling is required for formation of the notochord sheath and patterning of nuclei pulposi within the intervertebral discsKyung Suk Choi
Department of Molecular Genetics and Microbiology and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610, USA
Proc Natl Acad Sci U S A 108:9484-9. 2011..As notochord cells form nuclei pulposi, we propose that the notochord sheath functions as a "wrapper" around the notochord to constrain these cells along the vertebral column...
- Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during developmentU Deutsch
Max Planck Institute for Biophysical Chemistry, Gottingen, Federal Republic of Germany
Cell 53:617-25. 1988..The hybridizing sequences are highly homologous to the conserved Drosophila paired box sequences. A single 3.1 kb Pax 1 (paired box gene) transcript was detected during embryonic development, whereas no transcripts were detected in ..
- Meso1, a basic-helix-loop-helix protein involved in mammalian presomitic mesoderm developmentM A Blanar
Hormone Research Institute, University of California, San Francisco 94143, USA
Proc Natl Acad Sci U S A 92:5870-4. 1995..Our findings suggest that Meso1 may be a key regulatory gene involved in the early events of vertebrate mesoderm differentiation...
- Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiationY Saga
Banyu Tsukuba Research Institute Merck, Japan
Genes Dev 11:1827-39. 1997....
- The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundariesK Kusumi
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Nat Genet 19:274-8. 1998..Viability analysis also indicates an important role in early development. The results point to a key role for a Notch-signalling pathway in the initiation of patterning of vertebrate paraxial mesoderm...
- The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral columnM Leitges
Abt Molekulare Embryologie and Abt Entwicklungsbiologie, Max Planck Institut fur Immunbiologie, Stubeweg 51, Germany
Development 127:2259-67. 2000..The mesenchymal anlagen for these elements are formed initially, but condensation and chondrogenesis do not occur. Hence, Uncx4.1 is required for the maintenance and differentiation of particular elements of the axial skeleton...
- TGF beta 1 inhibits Ca2+-calcineurin-mediated activation in thymocytesRamireddy Bommireddy
Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, OH 45267 0524, USA
J Immunol 170:3645-52. 2003..Consequently, TGFbeta1 prevents autoimmune disease through a Ca(2+) regulatory pathway that maintains the activation threshold above that inducible by self-MHC-TCR interactions...
- The murine even-skipped-like gene Evx-2 is closely linked to the Hox-4 complex, but is transcribed in the opposite directionH Bastian
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, FRG
Mamm Genome 3:241-3. 1992
- Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2E J Hess
Department of Neuropharmacology, Scripps Research Institute, La Jolla, California 92037
J Neurosci 12:2865-74. 1992..The localization of the genetic abnormality in coloboma mice using the Snap gene marker will provide a powerful tool for studying the biologic basis of locomotor hyperactivity...
- Additional mapping of mouse chromosome 2 genesR J Graff
Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
Immunogenetics 33:96-100. 1991..Hd-1 typing indicated that Hd-1 maps distal to [H-42, H-44] and proximal to un. The gene order [pa, B2m, H-3], we, [H-42, H-45], Hd-1, un, H-13, at, with H-44 mapping centromeric to Hd-1, is indicated by the data...
- The hairy ears (Eh) mutation is closely associated with a chromosomal rearrangement in mouse chromosome 15M T Davisson
Jackson Laboratory, Bar Harbor, ME 04609
Genet Res 56:167-78. 1990..The effect of the inversion extends over a minimum of 30 cM, taking into account the genetic data and the cytologically determined chromosomal involvement extending to the region of the telomere...
- Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant miceU Helwig
Jackson Laboratory, Bar Harbor, Maine 04609, USA
Nat Genet 11:60-3. 1995..Here we report that undulated-Patch double-mutant mice have a phenotype reminiscent of an extreme form of spina bifida occulta in humans...
- The genetic origin of minor histocompatibility antigensD C Roopenian
Jackson Laboratory, Bar Harbor, ME 04609
Immunogenetics 38:131-40. 1993....
- Continued mapping of chromosome 2 genesR J Graff
Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
Immunogenetics 40:21-6. 1994..The order of the bracketed genes is not known. H-44 maps centromeric to IR-H-Y. The genes encoding the antigens that stimulate lymphocyte clones 2G7, 2C10, 1F6, 1B10, and 1H10 map centromeric to H-45...
- Pax: gene regulators in the developing nervous systemG Chalepakis
Max Planck Institut fur biophysikalische Chemie, Abteilung Molekulare Zellbiologie, Gottingen, Germany
J Neurobiol 24:1367-84. 1993..Pax-6 mutations result in Small eye mice and the human genetic disorder aniridia. The Pax-1 gene is mutated in undulated mice. Pax proteins can transform cells in culture which then form tumours following injection in nude mice...
- Severe defects in the formation of epaxial musculature in open brain (opb) mutant mouse embryosR Spörle
GSF Forschungszentrum für Umwelt und Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Oberschleissheim, Germany
Development 122:79-86. 1996..Analysis of Mox1 and Pax1 expression in opb embryos revealed additional defects in the differentiation of the dorsal sclerotome...
- Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 homeobox factorG Waeber
Department of Internal Medicine B, University Hospital, Lausanne, Switzerland
Mol Endocrinol 10:1327-34. 1996..These data demonstrate that the murine GLUT2 promoter is controlled by the PDX-1 homeobox factor through the identified GLUT2TAAT motif...
- The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somitesP Soriano
Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Development 124:2691-700. 1997..These results indicate that PDGFs may exert their functions during early embryogenesis by affecting cell survival and patterning...
- Pax genes and organogenesisE Dahl
GSF National Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany
Bioessays 19:755-65. 1997..PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development...
- Mutation in ankyrin repeats of the mouse Notch2 gene induces early embryonic lethalityY Hamada
National Institute for Basic Biology, Okazaki, Aichi 444 8585, Japan
Development 126:3415-24. 1999..The results indicate that Notch2 plays an essential role in postimplantation development in mice, probably in some aspect of cell specification and/or differentiation, and that the ankyrin repeats are indispensable for its function...
- Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glandsM Tanaka
Cardiovascular Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA
Dev Dyn 219:248-60. 2000..However, we did not observe prostate cancer in homozygous mutant mice up to 2 years of age. Therefore, involvement of NKX3.1 in carcinogenesis in men needs to be carefully determined by further investigation...
- Synergy between Hoxa1 and Hoxb1: the relationship between arch patterning and the generation of cranial neural crestA Gavalas
Division of Developmental Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
Development 128:3017-27. 2001..Furthermore, they demonstrate that early patterning of the separate components of the pharyngeal arches can proceed independently of neural crest cell migration...
- Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatchedYong Ma
Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Cell 111:63-75. 2002..This activity is disrupted by alteration of residues functionally conserved in Patched and in a related family of bacterial transmembrane transporters, thus suggesting similar mechanisms of action for all of these proteins...
- Aortic arch and pharyngeal phenotype in the absence of BMP-dependent neural crest in the mouseSabine Ohnemus
Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
Mech Dev 119:127-35. 2002....
- Linkage in the mouse: the sex-linked genes and RoughD S Falconer
Z Indukt Abstamm Vererbungsl 86:263-8. 1954
- Positive regulation of myogenic bHLH factors and skeletal muscle development by the cell surface receptor CDOFrancesca Cole
Brookdale Department of Molecular, Cell, and Developmental Biology, Mount Sinai School of Medicine, New York, NY 10029, USA
Dev Cell 7:843-54. 2004..The promyogenic effect of cell-cell contact is therefore linked to the activity of myogenic bHLH factors. Furthermore, the myogenic positive feedback network extends from the cell surface to the nucleus...
- Molecular signaling in intervertebral disk developmentChristian P DiPaola
Department of Orthopaedics, Cornell University Medical College, University of Rochester Medical Center, Rochester, NY 14642, USA
J Orthop Res 23:1112-9. 2005..The expression pattern of the BMP inhibitor Noggin appears to be important for the normal formation of the IVD and may prove to play a role in its segmental pattern formation...
- Fibroblast growth factor signalling and regional specification of the pharyngeal ectodermNina Trokovic
Institute of Biotechnology, Viikki Biocenter, University of Helsinki, Finland
Int J Dev Biol 49:797-805. 2005..Our results suggest that Fgfr1 is important for localized signalling in the pharyngeal ectoderm and consequently for normal tissue interactions in the developing second branchial arch...
- SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesisKarine Rizzoti
Division of Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
Development 134:3437-48. 2007..They also give insight into the formation of pharyngeal pouches, of which little is known in vertebrates. Finally, this work introduces two new players in craniofacial development - SOX3 and SOX2...
- Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathiesAlyson Ashe
Epigenetics Laboratory, Queensland Institute for Medical Research, Herston, Queensland 4006, Australia
Hum Mol Genet 21:1808-23. 2012..This allelic series of mouse mutants provides a unique opportunity to uncover the underlying mechanistic basis of this intriguing subset of ciliopathies...
- Developmental genetic bases behind the independent origin of the tympanic membrane in mammals and diapsidsTaro Kitazawa
1 Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, 7 3 1, Hongo, Bunkyo ku, Tokyo 113 0033, Japan 2 Core Research for Evolutional Science and Technology CREST, Japan Science and Technology Agency JST, Chiyoda ku, Tokyo 102 0076, Japan
Nat Commun 6:6853. 2015..We propose that differences in connection and release by various pharyngeal skeletal elements resulted in structural diversity, leading to the acquisition of the tympanic membrane in two distinct manners during amniote evolution. ..
- Molecular genetics of the Pax gene familyR E Hill
MRC Human Genetics Unit, Western General Hospital, Scotland, UK
Curr Opin Cell Biol 4:967-72. 1992..family are now known to be responsible for the established mouse developmental phenotypes Splotch, Small eye and undulated; two of these genes are implicated in the human congenital diseases Waardenburg's syndrome and aniridia...
- Interspecific backcross mice show sex-specific differences in allelic inheritanceL D Siracusa
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702
Genetics 128:813-21. 1991..These studies provide evidence for sex-specific differences in allelic inheritance for chromosome 2 and suggest biological explanations for this form of transmission distortion...
- Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2D M Juriloff
Department of Medical Genetics, University of British Columbia, Vancouver, B C Canada
J Hered 82:402-5. 1991..It may therefore be significant that, in mapping near Ulnaless, Far also maps in the vicinity of the Hox-4 gene cluster...
- Molecular regulation of neural crest developmentM Murphy
Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Victoria, Australia
Mol Neurobiol 7:111-35. 1993..Evidence is provided, mainly from in vitro experiments, that purified growth factors selectively promote the differentiation of neural crest cells down either sympathetic, adrenal, sensory, or melanocytic cell lineages...
- High-resolution mapping of a minor histocompatibility antigen gene on mouse chromosome 2A R Zuberi
Jackson Laboratory, Bar Harbor, Maine 04609
Mamm Genome 4:516-22. 1993..26 +/- 0.15-un (% recombination +/- 1 SE). Because the average resolution of the backcross is 0.09 cM, the backcross panel should facilitate the physical mapping and molecular identification of a number of genes in this chromosome region...
- Altered Pax gene expression in murine notochord mutants: the notochord is required to initiate and maintain ventral identity in the somiteS Dietrich
Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
Mech Dev 44:189-207. 1993....
- Delimiting the location of the scrapie prion incubation time gene on chromosome 2 of the mouseG A Carlson
McLaughlin Research Institute, Great Falls, Montana 59401
Genetics 133:979-88. 1993..Thus, Prn-pb transgenes and Prn-i may modulate scrapie pathogenesis by different mechanisms...
- Assignment of the paired box gene Pax1 to rat chromosome 3M Otsen
Department of Laboratory Animal Science, Faculty of Veterinary Medicine, Utrecht University, The Netherlands
Mamm Genome 6:666-7. 1995
- Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defectsN D Greene
Neural Development Unit, Institute of Child Health, University College, 30 Guilford Street, London, WC1N 1EH, UK
Mech Dev 73:59-72. 1998..The paraxial mesoderm shows evidence of ventralisation, with increased expression of the sclerotomal marker Pax1, and diminished expression of the dermomyotomal marker Pax3...
- Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutantR Spörle
Institute of Mammalian Genetics ISG, GSF National Research Center for Environment and Health, Neuherberg, Germany
Dev Genet 22:359-73. 1998..These prominent skeletal defects were preceded by reduced expression of Pax1 along the intrasomitic borderlines, and incomplete maintenance of somite borders between central sclerotome ..
- [Non-Mendelian inheritance of the Un(s) mutant gene in mice]N Iu Sakharova
Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Moscow Oblast, Russia
Genetika 34:816-24. 1998..The segregation found seems to result either from different fertilizing ability of normal sperm and sperm carrying the Uns mutation or, which is more probable, from the genetic imprinting of the gene Uns...
- MLL, a mammalian trithorax-group gene, functions as a transcriptional maintenance factor in morphogenesisB D Yu
Howard Hughes Medical Institute, Division of Molecular Oncology, Departments of Medicine and Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 95:10632-6. 1998..Thus, Mll represents an essential mechanism of transcriptional maintenance in mammalian development, which functions in multiple morphogenetic processes...
- Genetic rescue of segmentation defect in MesP2-deficient mice by MesP1 gene replacementY Saga
Banyu Tsukuba Research Institute Merck, Tsukuba, 300 26, Japan
Mech Dev 75:53-66. 1998..Thus, it is concluded that the functions of MesP1 during somitogenesis, like MesP2, are also mediated via notch-delta and FGF signaling systems...
- Angiogenesis defects and mesenchymal apoptosis in mice lacking SMAD5X Yang
Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Development 126:1571-80. 1999..These data suggest that SMAD5 may regulate endothelium-mesenchyme interactions during angiogenesis and that it is essential for mesenchymal survival...
- Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column developmentT A Furumoto
Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chuo Ku, Chiba, 260 8670, Japan
Dev Biol 210:15-29. 1999..The products of the paired-box-containing Pax1 and the mesenchyme forkhead-1 (Mfh1) genes are expressed in the developing sclerotome and are essential for the ..
- The role of the notochord for epaxial myotome formation in the mouseS Dietrich
King s College London, Department of Craniofacial Development, UK
Cell Mol Biol (Noisy-le-grand) 45:601-16. 1999..We therefore hypothesise that in mammals, as in birds, the formation of the epaxial musculature depends on the presence of notochord derived signals...
- The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleenC Tribioli
Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029 6574, USA
Development 126:5699-711. 1999..Loss of Bapx1 is accompanied by an increase in apoptotic cell death in affected tissues, although cell cycling rates are unaltered...
- Characterization of a novel insertional mouse mutation, kkt: A closely linked modifier of Pax1P Bialek
Department of Biochemistry, University of Western Ontario, London, Canada
Dev Biol 218:354-66. 2000..The skeletal abnormalities are similar to those observed in the mouse mutant undulated (un)...
- Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformationH Akazawa
Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
Genes Cells 5:499-513. 2000....
- Evolutionary conservation of gene structures of the Pax1/9 gene familyC Hetzer-Egger
Department of Developmental Immunology, Max Planck Institute for Immunobiology, Stuebeweg 51, D 79108, Freiburg, Germany
Biochim Biophys Acta 1492:517-21. 2000Based on amino acid sequence comparisons, Pax1 and Pax9 genes are considered to form a subgroup of vertebrate Pax genes...
- DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1L A Jerome
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York, USA
Nat Genet 27:286-91. 2001..On the basis of this phenotype in mice, we propose that TBX1 in humans is a key gene in the etiology of DGS/VCFS...
- Agenesis of the scapula in Emx2 homozygous mutantsM Pellegrini
Dipartimento di Scienze Morfologiche e Medico Legali, Universita di Modena e Reggio Emilia, Modena, 41100, Italy
Dev Biol 232:149-56. 2001..The knock-out of Pax1 has shown that this gene is involved in patterning the acromion, while the expression pattern candidates Hoxc6 as a ..
- Epaxial-adaxial-hypaxial regionalisation of the vertebrate somite: evidence for a somitic organiser and a mirror-image duplicationR Spörle
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Ingolstadter Landstrasse 1, 85764 Neuherberg, Germany
Dev Genes Evol 211:198-217. 2001....
- Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somitesF R Schubert
King s College London, MRC Centre for Developmental Neurobiology, New Hunt s House, London, United Kingdom
Dev Dyn 222:506-21. 2001..This finding suggests an early function of Pax3 during the formation of epithelial somites...
- Cooperation of Hoxa5 and Pax1 genes during formation of the pectoral girdleJosée Aubin
Centre de recherche en cancérologie de l Université Laval, Centre Hospitalier Universitaire de Quebec, L Hôtel Dieu de Québec, Quebec, G1R 2J6, Canada
Dev Biol 244:96-113. 2002..Some skeletal malformations encountered in Hoxa5 mutants are shared by the undulated (un) mice, which bear a point mutation in the Pax1 gene...
- FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissuesOleg V Bulgakov
The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Development 131:2149-59. 2004..Although it is expressed broadly, FKBP8 is required to antagonize SHH signaling primarily in neural tissues, suggesting that hedgehog signal transduction is subject to cell-type specific modulation during mammalian development...
- BMP signaling in the epiblast is required for proper recruitment of the prospective paraxial mesoderm and development of the somitesShigeto Miura
Laboratory of Reproductive and Developmental Toxicology, National Institute of Environmental Health Sciences, MD C4 10, C458, Research Triangle Park, NC 27709, USA
Development 133:3767-75. 2006..This suggests that BMP and FGF signaling function antagonistically during paraxial mesoderm development...
- Lasp1 misexpression influences chondrocyte differentiation in the vertebral columnNatascha Hermann-Kleiter
Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University, Innsbruck, Austria
Int J Dev Biol 53:983-91. 2009The mouse mutant wavy tail Tg(Col1a1-lacZ)304ng was created through transgene insertion and exhibits defects of the vertebral column...
- Differential axial requirements for lunatic fringe and Hes7 transcription during mouse somitogenesisMichael Stauber
Developmental Genetics Laboratory, Cancer Research UK, London Research Institute, London, United Kingdom
PLoS ONE 4:e7996. 2009..We present evidence that Lfng controls dorsal-ventral axis specification in the tail, and also suggest that Lfng controls the expression or activity of a long-range signal that regulates axial extension...
- Lack of motor neuron differentiation is an intrinsic property of the mouse secondary neural tubeAlisa S W Shum
School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong
Dev Dyn 239:3192-203. 2010..Taken together, these results support that the lack of motor neuron differentiation is an intrinsic property of the mouse secondary neural tube...
- Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in miceTadashi Okubo
Okazaki Institute for Integrative Bioscience, National Institutes of Natural Sciences, Okazaki, Aichi 444 8787, Japan
Development 138:339-48. 2011..Together, our results show that Ripply3 plays a role in pharyngeal development, probably by regulating Tbx1 activity...
- Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatmentMuriel Rhinn
Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch F 67404, France
Proc Natl Acad Sci U S A 108:16687-92. 2011..These results underscore the importance of maternal retinoids in preventing congenital birth defects, and lead to a revised model of the importance of RDH10 and RALDHs in controlling embryonic RA distribution...
- Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testisB Adams
Institute of Molecular Pathology, Vienna, Austria
Genes Dev 6:1589-607. 1992..All of this evidence indicates that the transcription factor BSAP may not only play an important role in B-cell differentiation but also in neural development and spermatogenesis...
- Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4K B Avraham
Mammalian Genetics Laboratory, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702
Genomics 13:264-8. 1992....
- GENES CAUSING SPONTANEOUS OBESITYCraig Warden; Fiscal Year: 2002..They have already found that spretus and B6 UCP2 differ for 2 amino acids, so uncoupling activity of UCP2 from these strains will be examined. ..
- Role of Sonic hedgehog in pharyngeal organ developmentNancy Manley; Fiscal Year: 2005..These tools will also allow us to expand our investigation to other signaling pathways, such as BMPs and FGFs, that are known to interact with the Shh pathway in other organs. ..
- Regulation of thymic epithelial cell differentiationNancy Manley; Fiscal Year: 2007..Further, our identification of a new function for the N-terminal domain may have implications for functional domains in other forkhead family transcription factors. ..
- Genetic analysis of thymus organogenesisNancy Manley; Fiscal Year: 2007..in my laboratory has shown that Hoxa3 is required for thymus and parathyroid development, and that the Hoxa3 and Pax1 transcription factors have synergistic effects on the early stages of thymus/ parathyroid development...
- Mechanisms of cervical thymus developmentNancy Manley; Fiscal Year: 2008..If it is the latter, this raises the intriguing possibility that latent thymic potential may exist in everyone, and thus may represent a novel therapeutic target for thymic regeneration and rebound. [unreadable] [unreadable] [unreadable]..
- RAPID ISOLATION OF DIET-RESPONSIVE OBESITY GENESCraig Warden; Fiscal Year: 2009..We believe that this study offers the opportunity to identify a gene causing maternal effects on obesity, as well as three other obesity genes, by using well characterized congenic mouse strains. ..
- Positional cloning of obesity genes from congenic miceCraig H Warden; Fiscal Year: 2010..The long term outcome is that we will identify at least one novel and strong and plausible obesity gene. ..