Experts and Doctors on transcription factors in Freiburg, Baden Württemberg, Germany


Locale: Freiburg, Baden Württemberg, Germany
Topic: transcription factors

Top Publications

  1. Kutejova E, Engist B, Self M, Oliver G, Kirilenko P, Bobola N. Six2 functions redundantly immediately downstream of Hoxa2. Development. 2008;135:1463-70 pubmed publisher
    ..We propose that Six2 acts to mediate Hoxa2 control over the insulin-like growth factor pathway during branchial arch development...
  2. Bleul C, Boehm T. Laser capture microdissection-based expression profiling identifies PD1-ligand as a target of the nude locus gene product. Eur J Immunol. 2001;31:2497-503 pubmed
    ..The presented results support our prediction that this systematic approach by gene expression profiling yields regulators of thymopoiesis. ..
  3. Sweere U, Eichenberg K, Lohrmann J, Mira Rodado V, Bäurle I, Kudla J, et al. Interaction of the response regulator ARR4 with phytochrome B in modulating red light signaling. Science. 2001;294:1108-11 pubmed
    ..We propose that the response regulator 4 acts as an output element of a two-component system that modulates red light signaling on the level of the phytochrome B photoreceptor. ..
  4. Quack I, Vonderstrass B, Stock M, Aylsworth A, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999;65:1268-78 pubmed
  5. Onichtchouk D, Aduroja K, Belting H, Gnügge L, Driever W. Transgene driving GFP expression from the promoter of the zona pellucida gene zpc is expressed in oocytes and provides an early marker for gonad differentiation in zebrafish. Dev Dyn. 2003;228:393-404 pubmed
    ..It is also the first promoter characterized to date to drive stable and efficient expression specifically in the zebrafish female germline. ..
  6. Burk U, Schubert J, Wellner U, Schmalhofer O, Vincan E, Spaderna S, et al. A reciprocal repression between ZEB1 and members of the miR-200 family promotes EMT and invasion in cancer cells. EMBO Rep. 2008;9:582-9 pubmed publisher
    ..Alternatively, depending on the environmental trigger, this loop might switch and induce epithelial differentiation, and thus explain the strong intratumorous heterogeneity observed in many human cancers. ..
  7. Schweizer H, Johnson R, Brand Saberi B. Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression. Anat Embryol (Berl). 2004;208:7-18 pubmed
    ..The present study provides new insights into migratory pathways of myogenic precursor cells and reveals details of Lmx1b expression on a cellular basis within the limb. ..
  8. Leipoldt M, Erdel M, Bien Willner G, Smyk M, Theurl M, Yatsenko S, et al. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007;71:67-75 pubmed
    ..We discuss the structure of the 1 Mb cis-control region upstream of SOX9 and the correlation between the position of the 14 mapped translocation breakpoints with respect to disease severity and XY sex reversal. ..
  9. Nussbaum K, Burkhard S, Ohs I, Mair F, Klose C, Arnold S, et al. Tissue microenvironment dictates the fate and tumor-suppressive function of type 3 ILCs. J Exp Med. 2017;214:2331-2347 pubmed publisher
    ..We thus propose that the tissue microenvironment, combined with ontogeny, provides the specific function, whereas the phenotype is insufficient to predict the functional properties of ILCs. ..

More Information


  1. Aberle H, Bierkamp C, Torchard D, Serova O, Wagner T, Natt E, et al. The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. Proc Natl Acad Sci U S A. 1995;92:6384-8 pubmed
    ..Our results, together with the present knowledge about the biological function of plakoglobin, suggest that plakoglobin might represent a putative tumor suppressor gene for breast and ovarian cancers. ..
  2. Kruse U, Qian F, Sippel A. Identification of a fourth nuclear factor I gene in chicken by cDNA cloning: NFI-X. Nucleic Acids Res. 1991;19:6641 pubmed
  3. Botzenhart E, Green A, Ilyina H, König R, Lowry R, Lo I, et al. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005;26:282 pubmed
  4. Essig A, Duque Afonso J, Schwemmers S, Pahl H, Lubbert M. The AML1/ETO target gene LAT2 interferes with differentiation of normal hematopoietic precursor cells. Leuk Res. 2014;38:340-5 pubmed publisher
    ..It is tempting to speculate that by affecting the differentiation capacity of normal hematopoietic progenitors, LAT2 may contribute to the pathogenesis of AML. ..
  5. Wild R, Gerasimaite R, Jung J, Truffault V, Pavlovic I, Schmidt A, et al. Control of eukaryotic phosphate homeostasis by inositol polyphosphate sensor domains. Science. 2016;352:986-90 pubmed publisher
    ..We propose that InsPs communicate cytosolic P(i) levels to SPX domains and enable them to interact with a multitude of proteins to regulate P(i) uptake, transport, and storage in fungi, plants, and animals. ..
  6. Kircher S, Wellmer F, Nick P, Rügner A, Schafer E, Harter K. Nuclear import of the parsley bZIP transcription factor CPRF2 is regulated by phytochrome photoreceptors. J Cell Biol. 1999;144:201-11 pubmed
    ..We suggest that light-induced nuclear import of CPRF2 is an essential step in phytochrome signal transduction. ..
  7. Wilting J, Papoutsi M, Christ B, Nicolaides K, Von Kaisenberg C, Borges J, et al. The transcription factor Prox1 is a marker for lymphatic endothelial cells in normal and diseased human tissues. FASEB J. 2002;16:1271-3 pubmed
    ..VEGFR-3 and CD34 are less reliable markers for LECs and BECs, respectively, because exceptions from their normal expression patterns are found in pathologic tissues...
  8. Wissmann M, Yin N, Müller J, Greschik H, Fodor B, Jenuwein T, et al. Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression. Nat Cell Biol. 2007;9:347-53 pubmed
    ..Thus, our data suggest that specific gene regulation requires the assembly and coordinate action of demethylases with distinct substrate specificities. ..
  9. Lunde K, Belting H, Driever W. Zebrafish pou5f1/pou2, homolog of mammalian Oct4, functions in the endoderm specification cascade. Curr Biol. 2004;14:48-55 pubmed
    ..We propose that pou5f1 plays an activating role in zebrafish endodermal development, where it maintains sox32 expression during gastrulation and acts with sox32 to induce sox17 expression in endodermal precursor cells. ..
  10. Haass M, Feix G. Two different cDNAs encoding TFIID proteins of maize. FEBS Lett. 1992;301:294-8 pubmed
  11. Stock M, Schäfer H, Stricker S, Gross G, Mundlos S, Otto F. Expression of galectin-3 in skeletal tissues is controlled by Runx2. J Biol Chem. 2003;278:17360-7 pubmed
  12. Hetzer Egger C, Schorpp M, Haas Assenbaum A, Balling R, Peters H, Boehm T. Thymopoiesis requires Pax9 function in thymic epithelial cells. Eur J Immunol. 2002;32:1175-81 pubmed
    ..Whereas expression of TCRbeta chain genes is readily detectable in the mutant thymus, no expression of the TCRgamma chain was detectable. Our results identify a new genetically defined control point of thymopoiesis. ..
  13. Böhm J, Heinritz W, Craig A, Vujic M, Ekman Joelsson B, Kohlhase J, et al. Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet. 2008;9:88 pubmed publisher
    ..The mutation c.1333delC does not locate within functional domains, but impairs the activation of the downstream target. This suggests that misfolding of the protein prevents its biological function. ..
  14. Graeber K, Linkies A, Muller K, Wunchova A, Rott A, Leubner Metzger G. Cross-species approaches to seed dormancy and germination: conservation and biodiversity of ABA-regulated mechanisms and the Brassicaceae DOG1 genes. Plant Mol Biol. 2010;73:67-87 pubmed publisher
    ..Other species of the monophyletic genus Lepidium showed coat or embryo dormancy and are therefore highly suited for comparative seed biology...
  15. Brabletz S, Bajdak K, Meidhof S, Burk U, Niedermann G, Firat E, et al. The ZEB1/miR-200 feedback loop controls Notch signalling in cancer cells. EMBO J. 2011;30:770-82 pubmed publisher
    ..These findings explain increased Notch signalling in some types of cancers, where mutations in Notch pathway genes are rare. Moreover, they indicate an additional way how ZEB1 exerts its tumour progressing functions. ..
  16. Kruse U, Sippel A. Transcription factor nuclear factor I proteins form stable homo- and heterodimers. FEBS Lett. 1994;348:46-50 pubmed
    ..The unrestricted heterodimerization of NFI proteins adds, beside gene diversity and alternative splicing, another level of diversity to this protein family. ..
  17. Schorpp M, Schlake T, Kreamalmeyer D, Allen P, Boehm T. Genetically separable determinants of hair keratin gene expression. Dev Dyn. 2000;218:537-43 pubmed
    ..Our results indicate that the molecular consequences of mutations of the Whn gene can be different and demonstrate an unexpected complexity of transcriptional control mechanisms of hair keratin genes. ..
  18. Ueda M, Zhang Z, Laux T. Transcriptional activation of Arabidopsis axis patterning genes WOX8/9 links zygote polarity to embryo development. Dev Cell. 2011;20:264-70 pubmed publisher
    ..Both defects are rescued by overexpressing WOX8, indicating that WRKY2-dependent WOX8 transcription links zygote polarization with embryo patterning. ..
  19. Steinberg T, Ziegler N, Alonso A, Kohl A, Mussig E, Proksch S, et al. Strain response in fibroblasts indicates a possible role of the Ca(2+)-dependent nuclear transcription factor NM1 in RNA synthesis. Cell Calcium. 2011;49:259-71 pubmed publisher
    ..Mechanistically, we conclude that, application of strain appears as causative for the decline in RNA by impacting NM1, thereby indicating the possible role of NM1 in RNA synthesis. ..
  20. Groner B, Altiok S, Meier V. Hormonal regulation of transcription factor activity in mammary epithelial cells. Mol Cell Endocrinol. 1994;100:109-14 pubmed
    ..DNA binding of these proteins is negatively regulated by the lactogenic hormones. ..
  21. Huber K, Narasimhan P, Shtukmaster S, Pfeifer D, Evans S, Sun Y. The LIM-Homeodomain transcription factor Islet-1 is required for the development of sympathetic neurons and adrenal chromaffin cells. Dev Biol. 2013;380:286-98 pubmed publisher
  22. Wein M, Fretwurst T, Nahles S, Duttenhoefer F, Tomakidi P, Steinberg T, et al. Pilot investigation of the molecular discrimination of human osteoblasts from different bone entities. J Craniomaxillofac Surg. 2015;43:1487-93 pubmed publisher
  23. Krech A, Wulff D, Grasser K, Feix G. Plant chromosomal HMGI/Y proteins and histone H1 exhibit a protein domain of common origin. Gene. 1999;230:1-5 pubmed
    ..Interestingly, the genes encoding plant H1 contain an intron at exactly the same relative position, indicating an evolutionary relationship of the plant genes encoding HMGI/Y and H1 proteins. ..
  24. Hoff S, Halbritter J, Epting D, Frank V, Nguyen T, van Reeuwijk J, et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013;45:951-6 pubmed publisher
    ..Network analyses uncovered additional putative NPHP proteins and placed ANKS6 at the center of this NPHP module, explaining the overlapping disease manifestation caused by mutation in ANKS6, NEK8, INVS or NPHP3...
  25. Fernandes A, Beddows E, Filippi A, Driever W. Orthopedia transcription factor otpa and otpb paralogous genes function during dopaminergic and neuroendocrine cell specification in larval zebrafish. PLoS ONE. 2013;8:e75002 pubmed publisher
    ..Otp may thus be crucial for defined neuronal cell types also in the hindbrain. ..
  26. Fernández A, Gil P, Valkai I, Nagy F, Schafer E. Analysis of the function of the photoreceptors phytochrome B and phytochrome D in Nicotiana plumbaginifolia and Arabidopsis thaliana. Plant Cell Physiol. 2005;46:790-6 pubmed
    ..These data indicate that AtPHYD:GFP is biologically active and functions as the main red light receptor in transgenic tobacco, and establish an experimental system for the functional analysis of this elusive photoreceptor in vivo. ..
  27. Gabriel B, Mildenberger S, Weisser C, Metzger E, Gitsch G, Schüle R, et al. Focal adhesion kinase interacts with the transcriptional coactivator FHL2 and both are overexpressed in epithelial ovarian cancer. Anticancer Res. 2004;24:921-7 pubmed
    ..Taken together, our results demonstrated for the first time FHL2 expression in human ovarian cancer cells, suggesting an important functional role of pp125FAK and FHL2 complex in gynecologic malignancies. ..
  28. Breuninger H, Rikirsch E, Hermann M, Ueda M, Laux T. Differential expression of WOX genes mediates apical-basal axis formation in the Arabidopsis embryo. Dev Cell. 2008;14:867-76 pubmed publisher
    ..Thus, our results link the spatial separation of WOX transcription factors to localized auxin response and the formation of the main body axis in the embryo. ..
  29. Millanes Romero A, Herranz N, Perrera V, Iturbide A, Loubat Casanovas J, Gil J, et al. Regulation of heterochromatin transcription by Snail1/LOXL2 during epithelial-to-mesenchymal transition. Mol Cell. 2013;52:746-57 pubmed publisher
    ..We propose that Snail1 regulates heterochromatin transcription through LOXL2, thus creating the favorable transcriptional state necessary for completing EMT. ..
  30. Welsch R, Maass D, Voegel T, DellaPenna D, Beyer P. Transcription factor RAP2.2 and its interacting partner SINAT2: stable elements in the carotenogenesis of Arabidopsis leaves. Plant Physiol. 2007;145:1073-85 pubmed
    ..The action of SINAT2 may explain the recalcitrance of AtRAP2.2 protein levels to change by altering AtRAP2.2 transcription. ..
  31. Martins V, Boehm T, Bleul C. Ltbetar signaling does not regulate Aire-dependent transcripts in medullary thymic epithelial cells. J Immunol. 2008;181:400-7 pubmed
    ..We propose that the physiological medullary architecture ensures negative-selection by supporting lympho-epithelial interaction through a large epithelial cell surface distributed evenly across the medulla. ..
  32. Müller R, Fernández A, Hiltbrunner A, Schafer E, Kretsch T. The histidine kinase-related domain of Arabidopsis phytochrome a controls the spectral sensitivity and the subcellular distribution of the photoreceptor. Plant Physiol. 2009;150:1297-309 pubmed publisher
    ..Degradation of the mutated phyA is unaltered even under light conditions that inhibit its nuclear accumulation, indicating that phyA degradation may occur mostly in the cytoplasm. ..
  33. Viktorin G, Chiuchitu C, Rissler M, Varga Z, Westerfield M. Emx3 is required for the differentiation of dorsal telencephalic neurons. Dev Dyn. 2009;238:1984-98 pubmed publisher
    ..Previously, emx3 was thought to be fish-specific. However, we found all three emx orthologs in Xenopus tropicalis and opossum (Monodelphis domestica) genomes, indicating that emx3 was present in an ancestral tetrapod genome. ..
  34. Borozdin W, Steinmann K, Albrecht B, Bottani A, Devriendt K, Leipoldt M, et al. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat. 2006;27:211-2 pubmed
    ..It therefore seems that there is a different contribution of SALL1 gene function to mouse and human embryonic development. ..
  35. Baptista T, Grünberg S, Minoungou N, Koster M, Timmers H, Hahn S, et al. SAGA Is a General Cofactor for RNA Polymerase II Transcription. Mol Cell. 2017;68:130-143.e5 pubmed publisher
    ..Our data demonstrate that SAGA acts as a general cofactor required for essentially all RNA polymerase II transcription and is not consistent with the previous classification of SAGA- and TFIID-dominated genes. ..
  36. Biermann J, Lagrèze W, Dimitriu C, Stoykow C, Goebel U. Preconditioning with inhalative carbon monoxide protects rat retinal ganglion cells from ischemia/reperfusion injury. Invest Ophthalmol Vis Sci. 2010;51:3784-91 pubmed publisher
    ..Further studies are needed to evaluate whether CO posttreatment may represent a therapeutic option counteracting ischemic neuronal injury. ..
  37. Schlake T, Schorpp M, Maul Pavicic A, Malashenko A, Boehm T. Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype. Dev Dyn. 2000;217:368-76 pubmed
    ..Our results implicate Whn as a transcriptional regulator of hair keratin genes and reveal the nude phenotype as the first example of an inherited skin disorder that is caused by loss of expression rather than mutation of keratin genes. ..
  38. Koseki H, Wallin J, Wilting J, Mizutani Y, Kispert A, Ebensperger C, et al. A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae. Development. 1993;119:649-60 pubmed
  39. Aberle H, Schwartz H, Hoschuetzky H, Kemler R. Single amino acid substitutions in proteins of the armadillo gene family abolish their binding to alpha-catenin. J Biol Chem. 1996;271:1520-6 pubmed
    ..Our results indicate that single amino acid mutations in the alpha-catenin binding site of homologs of Armadillo could prevent a stable association with alpha-catenin, thus affecting cadherin-mediated adhesion. ..
  40. Schrägle J, Huang R, Christ B, Prols F. Control of the temporal and spatial Uncx4.1 expression in the paraxial mesoderm of avian embryos. Anat Embryol (Berl). 2004;208:323-32 pubmed
    ..1 expression in the caudal somite half. The neural tube is necessary for providing sufficient Uncx4.1 positive sclerotomal material to enable development of pedicles of the neural arches and transverse processes. ..
  41. Du X, Hublitz P, Gunther T, Wilhelm D, Englert C, Schüle R. The LIM-only coactivator FHL2 modulates WT1 transcriptional activity during gonadal differentiation. Biochim Biophys Acta. 2002;1577:93-101 pubmed
    ..The ability to modulate both DAX1 and MIS expression might allow FHL2 to act in the molecular fine tuning of WT1-dependent control mechanisms in the reproductive organs. ..
  42. Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 2002;19:209-16 pubmed
  43. Leone D, Heavner W, Ferenczi E, Dobreva G, Huguenard J, Grosschedl R, et al. Satb2 Regulates the Differentiation of Both Callosal and Subcerebral Projection Neurons in the Developing Cerebral Cortex. Cereb Cortex. 2015;25:3406-19 pubmed publisher
    ..Collectively these data show that Satb2 is required by both CPNs and SCPNs for proper differentiation and axon pathfinding. ..
  44. Nica G, Herzog W, Sonntag C, Hammerschmidt M. Zebrafish pit1 mutants lack three pituitary cell types and develop severe dwarfism. Mol Endocrinol. 2004;18:1196-209 pubmed
    ..In sum, our data point to both conserved and class-specific aspects of Pit1 function during pituitary development in different vertebrate species. ..
  45. Sarkar A, Luijten M, Miyashima S, Lenhard M, Hashimoto T, Nakajima K, et al. Conserved factors regulate signalling in Arabidopsis thaliana shoot and root stem cell organizers. Nature. 2007;446:811-4 pubmed
    ..Importantly, both WOX5 and WUS maintain stem cells in either a root or shoot context. Together, our data indicate that stem cell maintenance signalling in both meristems employs related regulators. ..
  46. Nowak M, Koster C, Hammerschmidt M. Perp is required for tissue-specific cell survival during zebrafish development. Cell Death Differ. 2005;12:52-64 pubmed
    ..We conclude that, in contrast to its proapoptotic function in stressed cells, Perp plays an antiapoptotic role during normal zebrafish development to regulate tissue-specific cell survival. ..
  47. Ueda M, Aichinger E, Gong W, Groot E, Verstraeten I, Vu L, et al. Transcriptional integration of paternal and maternal factors in the Arabidopsis zygote. Genes Dev. 2017;31:617-627 pubmed publisher
    ..Our results reveal a framework of how maternal and paternal factors are integrated in the zygote to regulate embryo patterning. ..
  48. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster U, Fuchs S, et al. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005;26:176-83 pubmed
    ..This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. ..
  49. Koehler K, Franz T, Dear T. Hox11 is required to maintain normal Wt1 mRNA levels in the developing spleen. Dev Dyn. 2000;218:201-6 pubmed
    ..As Wt1-null embryos have recently been reported to be asplenic, these findings suggest that Wt1 and Hox11 may be components common to a genetic hierarchy that is required for spleen development. ..
  50. Kraus F, Haenig B, Kispert A. Cloning and expression analysis of the mouse T-box gene Tbx18. Mech Dev. 2001;100:83-6 pubmed
    ..Other sites of expression include the cranial paraxial mesoderm, the presomitic mesoderm, the anterior somite half, the genital ridge, and the developing limb buds. ..
  51. Rentzsch F, Kramer C, Hammerschmidt M. Specific and conserved roles of TAp73 during zebrafish development. Gene. 2003;323:19-30 pubmed
    ..Together, our data point to both conserved and class-specific roles of p73 during vertebrate development. ..
  52. Herr D, Keck C, Tempfer C, Pietrowski D. Chorionic gonadotropin regulates the transcript level of VHL, p53, and HIF-2alpha in human granulosa lutein cells. Mol Reprod Dev. 2004;69:397-401 pubmed
    ..Our results indicate that hCG may determine the growth and development of the corpus luteum by mediating hypoxic and apoptotic pathways in human granulosa lutein cells. ..
  53. Gödel M, Hartleben B, Herbach N, Liu S, Zschiedrich S, Lu S, et al. Role of mTOR in podocyte function and diabetic nephropathy in humans and mice. J Clin Invest. 2011;121:2197-209 pubmed publisher
    ..These results demonstrate the requirement for tightly balanced mTOR activity in podocyte homeostasis and suggest that mTOR inhibition can protect podocytes and prevent progressive diabetic nephropathy. ..
  54. Biemar F, Argenton F, Schmidtke R, Epperlein S, Peers B, Driever W. Pancreas development in zebrafish: early dispersed appearance of endocrine hormone expressing cells and their convergence to form the definitive islet. Dev Biol. 2001;230:189-203 pubmed
    ..We discuss our findings on zebrafish pancreatogenesis in the light of evolution of the pancreas in chordates. ..
  55. Gille H, Sharrocks A, Shaw P. Phosphorylation of transcription factor p62TCF by MAP kinase stimulates ternary complex formation at c-fos promoter. Nature. 1992;358:414-7 pubmed
    ..Our results link the expression of the human c-fos proto-oncogene to signal transduction pathways known to be activated before its own induction. ..
  56. Leung T, Söll I, Arnold S, Kemler R, Driever W. Direct binding of Lef1 to sites in the boz promoter may mediate pre-midblastula-transition activation of boz expression. Dev Dyn. 2003;228:424-32 pubmed
    ..Thus, the early onset of boz expression may be crucial for organizer establishment in the presence of ubiquitous maternal activators of ventralizing genes. ..
  57. Spaderna S, Schmalhofer O, Wahlbuhl M, Dimmler A, Bauer K, Sultan A, et al. The transcriptional repressor ZEB1 promotes metastasis and loss of cell polarity in cancer. Cancer Res. 2008;68:537-44 pubmed publisher
    ..Thus, by linking EMT, loss of polarity, and metastasis, ZEB1 is a crucial promoter of malignant tumor progression. ..
  58. Borozdin W, Graham J, Böhm D, Bamshad M, Spranger S, Burke L, et al. Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mutat. 2007;28:830 pubmed
    ..Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations. ..
  59. Bohne F, Langer D, Martine U, Eider C, Cencic R, Begemann M, et al. Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation. Clin Epigenetics. 2016;8:47 pubmed publisher
    ..Kaiso binding to unmethylated KBS in the human ICR1 is necessary for ICR1 methylation maintenance and affects transcription rates of the lncRNA H19. ..
  60. 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...
  61. Kohlhase J, Holmes L. Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide. Birth Defects Res A Clin Mol Teratol. 2004;70:550-1 pubmed
  62. Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R. The role of Pax-1 in axial skeleton development. Development. 1994;120:1109-21 pubmed
    ..Our observations suggest that Pax-1 function is required for essential steps in ventral sclerotome differentiation, i.e. for the transition from the mesenchymal stage to the onset of chondrogenesis. ..
  63. Pfeifer D, Poulat F, Holinski Feder E, Kooy F, Scherer G. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics. 2000;63:108-16 pubmed
    ..Thus, SOX8 is a good candidate gene contributing to the mental retardation phenotype seen in ATR-16 patients. ..
  64. Pinheiro I, Margueron R, Shukeir N, Eisold M, Fritzsch C, Richter F, et al. Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity. Cell. 2012;150:948-60 pubmed publisher
    ..Our data identify Prdm3 and Prdm16 as H3K9me1 methyltransferases and expose a functional framework in which anchoring to the nuclear periphery helps maintain the integrity of mammalian heterochromatin. ..
  65. Katsir L, Davies K, Bergmann D, Laux T. Peptide signaling in plant development. Curr Biol. 2011;21:R356-64 pubmed publisher
  66. Gille H, Kortenjann M, Thomae O, Moomaw C, Slaughter C, Cobb M, et al. ERK phosphorylation potentiates Elk-1-mediated ternary complex formation and transactivation. EMBO J. 1995;14:951-62 pubmed
    ..Our results indicate that phosphorylation regulates ternary complex formation by Elk-1, which is a prerequisite for the manifestation of its transactivation potential at the c-fos SRE. ..
  67. Kraus F, Haenig B, Kispert A. Cloning and expression analysis of the mouse T-box gene tbx20. Mech Dev. 2001;100:87-91 pubmed
    ..Expression is prominent in the extraembryonic mesoderm, in the developing heart, the eye anlage and motor neurons of hindbrain and spinal cord. ..
  68. Bauer D, Viczian A, Kircher S, Nobis T, Nitschke R, Kunkel T, et al. Constitutive photomorphogenesis 1 and multiple photoreceptors control degradation of phytochrome interacting factor 3, a transcription factor required for light signaling in Arabidopsis. Plant Cell. 2004;16:1433-45 pubmed
    ..Thus, we propose that PIF3 acts transiently, and its major function is to mediate phytochrome-induced signaling during the developmental switch from skotomorphogenesis to photomorphogenesis and/or dark to light transitions. ..
  69. Stumpf M, Yue X, Schmitz S, Luche H, Reddy J, Borggrefe T. Specific erythroid-lineage defect in mice conditionally deficient for Mediator subunit Med1. Proc Natl Acad Sci U S A. 2010;107:21541-6 pubmed publisher
    ..Thus, Mediator subunit Med1 plays a pivotal role in erythroid development and in ?-globin gene activation. ..
  70. Engelhardt O, Ullrich E, Kochs G, Haller O. Interferon-induced antiviral Mx1 GTPase is associated with components of the SUMO-1 system and promyelocytic leukemia protein nuclear bodies. Exp Cell Res. 2001;271:286-95 pubmed
    ..This suggests a role of PML NBs and SUMO-1 in the antiviral action of Mx1 and may allow us to discover novel functions of this large GTPase. ..
  71. Stock M, Otto F. Control of RUNX2 isoform expression: the role of promoters and enhancers. J Cell Biochem. 2005;95:506-17 pubmed
    ..This review focuses on the available evidence for the existence of such control mechanisms and studies aiming at discovering cis-acting regulatory sequences of the RUNX2 gene. ..
  72. Simons M, Gloy J, Ganner A, Bullerkotte A, Bashkurov M, Krönig C, et al. Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat Genet. 2005;37:537-43 pubmed
    ..Fluid flow increases inversin levels in ciliated tubular epithelial cells and seems to regulate this crucial switch between Wnt signaling pathways during renal development. ..
  73. Schunter S, Villa R, Flynn V, Heidelberger J, Classen A, Beli P, et al. Ubiquitylation of the acetyltransferase MOF in Drosophila melanogaster. PLoS ONE. 2017;12:e0177408 pubmed publisher
    ..Our study provides a comprehensive analysis of MOF ubiquitylation as a reference for future studies. ..
  74. Nica G, Herzog W, Sonntag C, Nowak M, Schwarz H, Zapata A, et al. Eya1 is required for lineage-specific differentiation, but not for cell survival in the zebrafish adenohypophysis. Dev Biol. 2006;292:189-204 pubmed
    ..Eya1 is required for lineage-specific differentiation of adenohypophyseal cells, but not for their survival, thereby uncoupling the differentiation-promoting and anti-apoptotic effects of Eya proteins seen in other tissues. ..
  75. Salat D, Liefke R, Wiedenmann J, Borggrefe T, Oswald F. ETO, but not leukemogenic fusion protein AML1/ETO, augments RBP-Jkappa/SHARP-mediated repression of notch target genes. Mol Cell Biol. 2008;28:3502-12 pubmed publisher
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