Experts and Doctors on alternative splicing in Germany


Locale: Germany
Topic: alternative splicing

Top Publications

  1. Gleichmann M, Gillen C, Czardybon M, Bosse F, Greiner Petter R, Auer J, et al. Cloning and characterization of SDF-1gamma, a novel SDF-1 chemokine transcript with developmentally regulated expression in the nervous system. Eur J Neurosci. 2000;12:1857-66 pubmed
    ..Computer-assisted analysis revealed that both transcripts encode secreted peptides with putative proteolytic cleavage sites which might generate novel neuropeptides. ..
  2. Graf E, Bock M, Heubach J, Zahanich I, Boxberger S, Richter W, et al. Tissue distribution of a human Ca v 1.2 alpha1 subunit splice variant with a 75 bp insertion. Cell Calcium. 2005;38:11-21 pubmed
    ..We conclude that the +9* variant is present in all human tissues investigated so far, and suggest that expression in human atrium is associated with vascular smooth muscle and/or connective tissue cells. ..
  3. Sugliani M, Brambilla V, Clerkx E, Koornneef M, Soppe W. The conserved splicing factor SUA controls alternative splicing of the developmental regulator ABI3 in Arabidopsis. Plant Cell. 2010;22:1936-46 pubmed publisher
    ..In the abi3-5 mutant, ABI3-beta codes for a functional ABI3 protein due to frameshift restoration. ..
  4. Bauer M, Dieterich W, Ehnis T, Schuppan D. Complete primary structure of human collagen type XIV (undulin). Biochim Biophys Acta. 1997;1354:183-8 pubmed
  5. Cardoso C, Garrett T, Cayla C, Meneton P, Pesquero J, Bader M. Structure and expression of two kininogen genes in mice. Biol Chem. 2004;385:295-301 pubmed
    ..The physiological functions of the six kininogen isoforms predicted by these findings need to be determined. ..
  6. Asang C, Hauber I, Schaal H. Insights into the selective activation of alternatively used splice acceptors by the human immunodeficiency virus type-1 bidirectional splicing enhancer. Nucleic Acids Res. 2008;36:1450-63 pubmed publisher
  7. Uhlmann Schiffler H, Rössler O, Stahl H. The mRNA of DEAD box protein p72 is alternatively translated into an 82-kDa RNA helicase. J Biol Chem. 2002;277:1066-75 pubmed
    ..p82 purified from HeLa cells is an ATP-dependent RNA helicase with biochemical properties almost identical to those of p72. ..
  8. Spiekermann K, Biethahn S, Wilde S, Hiddemann W, Alves F. Constitutive activation of STAT transcription factors in acute myelogenous leukemia. Eur J Haematol. 2001;67:63-71 pubmed
    ..Inhibition of this pathway might be of interest for the establishment of more specific antileukemic strategies. ..
  9. Riessland M, Brichta L, Hahnen E, Wirth B. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet. 2006;120:101-10 pubmed
    ..In conclusion, M344 can be considered as highly potent HDAC inhibitor which is active at low doses and therefore represents a promising candidate for a causal therapy of SMA. ..

More Information

Publications154 found, 100 shown here

  1. Khalimonchuk O, Ott M, Funes S, Ostermann K, Rödel G, Herrmann J. Sequential processing of a mitochondrial tandem protein: insights into protein import in Schizosaccharomyces pombe. Eukaryot Cell. 2006;5:997-1006 pubmed
    ..pombe. ..
  2. Steller U, Kohls S, Muller B, Soller R, Muller R, Schlender J, et al. The RNA binding protein HuD: rat cDNA and analysis of the alternative spliced mRNA in neuronal differentiating cell lines P19 and PC12. Brain Res Mol Brain Res. 1996;35:285-96 pubmed
    ..This RNA processing event seems to be differently regulated in PC12 cells on the one hand, and in P19 cells and brain of rat and mouse on the other. ..
  3. Boeddrich A, Burgtorf C, Roest Crollius H, Hennig S, Bernot A, Clark M, et al. Analysis of the spermine synthase gene region in Fugu rubripes, Tetraodon fluviatilis, and Danio rerio. Genomics. 1999;57:164-8 pubmed
    ..Sequence analysis of this PAC clone did not reveal other known genes: neither the RYRI gene, nor the HE6 gene, nor other human Xp22 genes were identified. ..
  4. Hospach T, Lohse P, Heilbronner H, Dannecker G, Lohse P. Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins. Arthritis Rheum. 2005;52:3606-10 pubmed
    ..In each case in which HIDS is clinically suspected, analysis of MK activity and/or the MVK gene (especially exons 9 and 11) should be performed. ..
  5. Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S, et al. Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Am J Hum Genet. 2006;78:291-302 pubmed
    ..Against the background of a general lack of methods for identifying splice-relevant SNPs, the presented approach is highly effective in the prediction of polymorphisms that are causal for variations in alternative splicing. ..
  6. Wilhelm B, Brandenburger T, Post H, Aumüller G. Expression and localization of PMCA4 in rat testis and epididymis. Histochem Cell Biol. 2008;129:331-43 pubmed
    ..In the caput epididymidis, where PMCA4 is located in the epithelium splice variant 4b was more prominent. Further experiments have to clarify the functional importance of the differences in the PMCA4 distribution. ..
  7. Schöppner P, Csaba G, Braun T, Daake M, Richter B, Lange O, et al. Regulatory Implications of Non-Trivial Splicing: Isoform 3 of Rab1A Shows Enhanced Basal Activity and Is Not Controlled by Accessory Proteins. J Mol Biol. 2016;428:1544-57 pubmed publisher
  8. Sandbrink R, Mönning U, Masters C, Beyreuther K. Expression of the APP gene family in brain cells, brain development and aging. Gerontology. 1997;43:119-31 pubmed
  9. Thiele B, Berger M, Huth A, Reimann I, Schwarz K, Thiele H. Tissue-specific translational regulation of alternative rabbit 15-lipoxygenase mRNAs differing in their 3'-untranslated regions. Nucleic Acids Res. 1999;27:1828-36 pubmed
    ..Very similar repetitive CU-rich elements of the type DICE1 (20 repeats) and DICE2 (nine repeats) were found in the part corresponding to the 3'-UTR of the mRNA. ..
  10. Schödel J, Padmapriya P, Marx A, Huang P, Ertl G, Kuhlencordt P. Expression of neuronal nitric oxide synthase splice variants in atherosclerotic plaques of apoE knockout mice. Atherosclerosis. 2009;206:383-9 pubmed publisher
    ..Since nNOS-alpha is atheroprotective, other nNOS splice variants which differ in enzyme kinetic and subcellular localization may also influence plaque formation. ..
  11. Harvey R, Chinchetru M, Darlison M. Alternative splicing of a 51-nucleotide exon that encodes a putative protein kinase C phosphorylation site generates two forms of the chicken gamma-aminobutyric acidA receptor beta 2 subunit. J Neurochem. 1994;62:10-6 pubmed
  12. Werner H, Dimou L, Klugmann M, Pfeiffer S, Nave K. Multiple splice isoforms of proteolipid M6B in neurons and oligodendrocytes. Mol Cell Neurosci. 2001;18:593-605 pubmed
    ..Cotransfection experiments suggest a physical interaction of M6B and mutant PLP, when retained in the endoplasmic reticulum, that may also contribute to oligodendrocyte dysfunction in Pelizaeus-Merzbacher disease. ..
  13. Stolle K, Schnoor M, Fuellen G, Spitzer M, Engel T, Spener F, et al. Cloning, cellular localization, genomic organization, and tissue-specific expression of the TGFbeta1-inducible SMAP-5 gene. Gene. 2005;351:119-30 pubmed
  14. Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, et al. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet. 2004;74:731-7 pubmed
  15. Petersen W, Varoga D, Zantop T, Hassenpflug J, Mentlein R, Pufe T. Cyclic strain influences the expression of the vascular endothelial growth factor (VEGF) and the hypoxia inducible factor 1 alpha (HIF-1alpha) in tendon fibroblasts. J Orthop Res. 2004;22:847-53 pubmed
    ..These results demonstrate that mechanical factors are involved in the regulation of VEGF expression in tendon tissue. ..
  16. Sender L, Gibbert K, Suezer Y, Radeke H, Kalinke U, Waibler Z. CD40 ligand-triggered human dendritic cells mount interleukin-23 responses that are further enhanced by danger signals. Mol Immunol. 2010;47:1255-61 pubmed publisher
    ..Data presented here might have an impact on DC-based cancer vaccination strategies and contribute to a better understanding of the complex regulation of the heterodimeric cytokine IL-23. ..
  17. Mishra S, Ammon T, Popowicz G, Krajewski M, Nagel R, Ares M, et al. Role of the ubiquitin-like protein Hub1 in splice-site usage and alternative splicing. Nature. 2011;474:173-8 pubmed publisher
    ..Our study indicates a novel mechanism for splice site utilization that is guided by non-covalent modification of the spliceosome by an unconventional ubiquitin-like modifier. ..
  18. Sherman L, Wainwright D, Ponta H, Herrlich P. A splice variant of CD44 expressed in the apical ectodermal ridge presents fibroblast growth factors to limb mesenchyme and is required for limb outgrowth. Genes Dev. 1998;12:1058-71 pubmed
  19. Wagener R, Kobbe B, Paulsson M. Genomic organisation, alternative splicing and primary structure of human matrilin-4. FEBS Lett. 1998;438:165-70 pubmed
    ..Due to a G to A mutation at the splice donor site of intron C, the third exon encodes an untranslated pseudo-exon specifying the first EGF-like domain when compared to mouse matrilin-4. ..
  20. Comtesse N, Niedermayer I, Glass B, Heckel D, Maldener E, Nastainczyk W, et al. MGEA6 is tumor-specific overexpressed and frequently recognized by patient-serum antibodies. Oncogene. 2002;21:239-47 pubmed
    ..The immune response to MGEA6/11 is frequent in both meningioma and glioma patients and may likely be attributed to overexpression of the MGEA6/11 protein in the tumor cells. ..
  21. Chuvpilo S, Jankevics E, Tyrsin D, Akimzhanov A, Moroz D, Jha M, et al. Autoregulation of NFATc1/A expression facilitates effector T cells to escape from rapid apoptosis. Immunity. 2002;16:881-95 pubmed
    ..Contrary to other NFATs, NFATc1/A is unable to promote apoptosis, suggesting that NFATc1/A enhances effector functions without promoting apoptosis of effector T cells. ..
  22. Watzka M, Geisen C, Seifried E, Oldenburg J. Sequence of the rat factor VIII cDNA. Thromb Haemost. 2004;91:38-42 pubmed
    ..Our findings might provide new insights into the structure-function analysis of the factor VIII protein and might prove useful for future animal models addressing the function of factor VIII. ..
  23. Waibler Z, Kalinke U, Will J, Juan M, Pfeilschifter J, Radeke H. TLR-ligand stimulated interleukin-23 subunit expression and assembly is regulated differentially in murine plasmacytoid and myeloid dendritic cells. Mol Immunol. 2007;44:1483-9 pubmed
    ..It supports the hypothesis of a coordinated adaptive immune response based on a finely tuned contribution of these cytokines by different mouse DC subsets. ..
  24. Stolle K, Schnoor M, Fuellen G, Spitzer M, Cullen P, Lorkowski S. Cloning, genomic organization, and tissue-specific expression of the RASL11B gene. Biochim Biophys Acta. 2007;1769:514-24 pubmed
    ..These results indicate that RASL11B may play a role in TGF-beta1-mediated developmental processes and in pathophysiologies such as inflammation, cancer, and arteriosclerosis. ..
  25. Rey Ares V, Lazarov N, Berg D, Berg U, Kunz L, Mayerhofer A. Dopamine receptor repertoire of human granulosa cells. Reprod Biol Endocrinol. 2007;5:40 pubmed
    ..This suggests a complex role of DA in the regulation of ovarian processes. ..
  26. Eisenreich A, Boltzen U, Poller W, Schultheiss H, Rauch U. Effects of the Cdc2-like kinase-family and DNA topoisomerase I on the alternative splicing of eNOS in TNF-alpha-stimulated human endothelial cells. Biol Chem. 2008;389:1333-8 pubmed publisher
  27. Wang L, Pietrek M, Brinkmann M, Hävemeier A, Fischer I, Hillenbrand B, et al. Identification and functional characterization of a spliced rhesus rhadinovirus gene with homology to the K15 gene of Kaposi's sarcoma-associated herpesvirus. J Gen Virol. 2009;90:1190-201 pubmed publisher
    ..These data suggest functional differences between terminal membrane proteins at the right end of the genomes of Old World primate gamma-2 herpesviruses. ..
  28. Neacsu C, Grosch M, Tejada M, Winterpacht A, Paulsson M, Wagener R, et al. Ucmaa (Grp-2) is required for zebrafish skeletal development. Evidence for a functional role of its glutamate ?-carboxylation. Matrix Biol. 2011;30:369-78 pubmed publisher
  29. Streitner C, Simpson C, Shaw P, Danisman S, Brown J, Staiger D. Small changes in ambient temperature affect alternative splicing in Arabidopsis thaliana. Plant Signal Behav. 2013;8:e24638 pubmed publisher
    ..We found significant changes in AS for 12 of 28 investigated events (43%) upon transfer of Arabidopsis plants from 20°C to 16°C and for 6 of the 28 investigated events (21%) upon transfer from 20°C to 24°C. ..
  30. Giesert F, Hofmann A, Bürger A, Zerle J, Kloos K, Hafen U, et al. Expression analysis of Lrrk1, Lrrk2 and Lrrk2 splice variants in mice. PLoS ONE. 2013;8:e63778 pubmed publisher
    ..In order to identify the origin of these two splice variants, we also analysed primary neural cultures independently and found cell-specific expression patterns for these variants in microglia and astrocytes. ..
  31. Michel M, Wilhelmi I, Schultz A, Preussner M, Heyd F. Activation-induced tumor necrosis factor receptor-associated factor 3 (Traf3) alternative splicing controls the noncanonical nuclear factor ?B pathway and chemokine expression in human T cells. J Biol Chem. 2014;289:13651-60 pubmed publisher
  32. Beil B, Screaton G, Stamm S. Molecular cloning of htra2-beta-1 and htra2-beta-2, two human homologs of tra-2 generated by alternative splicing. DNA Cell Biol. 1997;16:679-90 pubmed
    ..The ratio of these two isoforms changes after stimulation of primary human T-cell and primary rat spleen cell cultures, indicating that alternative splicing is involved in regulation of htra2-beta activity. ..
  33. Eckert C, Hammesfahr B, Kollmar M. A holistic phylogeny of the coronin gene family reveals an ancient origin of the tandem-coronin, defines a new subfamily, and predicts protein function. BMC Evol Biol. 2011;11:268 pubmed publisher
    ..The most ancient short coronin already contained the trimerization motif in the coiled-coil domain. ..
  34. Preußner M, Wilhelmi I, Schultz A, Finkernagel F, Michel M, Moroy T, et al. Rhythmic U2af26 alternative splicing controls PERIOD1 stability and the circadian clock in mice. Mol Cell. 2014;54:651-62 pubmed publisher
    ..These data suggest light-induced U2af26 alternative splicing to be a buffering mechanism that limits PERIOD1 induction, thus stabilizing the circadian clock against abnormal changes in light:dark conditions. ..
  35. Jacobsen M, Hoffmann S, Cepok S, Stei S, Ziegler A, Sommer N, et al. A novel mutation in PTPRC interferes with splicing and alters the structure of the human CD45 molecule. Immunogenetics. 2002;54:158-63 pubmed
    ..Overall, we describe the first mutation in PTPRCthat interferes with splicing and results in surface expression of a structurally altered CD45 molecule in humans. ..
  36. Bauer R, Hein R, Bosserhoff A. A secreted form of P-cadherin is expressed in malignant melanoma. Exp Cell Res. 2005;305:418-26 pubmed
  37. Frost R, Engelhardt S. A secretion trap screen in yeast identifies protease inhibitor 16 as a novel antihypertrophic protein secreted from the heart. Circulation. 2007;116:1768-75 pubmed
    ..PI16, a novel protein secreted from the heart, is strongly upregulated early in heart failure and inhibits growth of cardiomyocytes both in vitro and in vivo. PI16 might represent a novel therapeutic target in heart failure. ..
  38. Damert A, Raiz J, Horn A, Lower J, Wang H, Xing J, et al. 5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome. Genome Res. 2009;19:1992-2008 pubmed publisher
    ..Here we show that SVA-mediated 5' transduction events lead to structural diversity of SVA elements and represent a novel source of genomic rearrangements contributing to genomic diversity. ..
  39. Schönbauer C, Distler J, Jährling N, Radolf M, Dodt H, Frasch M, et al. Spalt mediates an evolutionarily conserved switch to fibrillar muscle fate in insects. Nature. 2011;479:406-9 pubmed publisher
    ..We propose that Spalt proteins switch myofibres from tubular to fibrillar fate during development, a function potentially conserved in the vertebrate heart--a stretch-activated muscle sharing features with insect flight muscle. ..
  40. Tran D, Saran S, Dittrich Breiholz O, Williamson A, Klebba Färber S, Koch A, et al. Transcriptional regulation of immediate-early gene response by THOC5, a member of mRNA export complex, contributes to the M-CSF-induced macrophage differentiation. Cell Death Dis. 2013;4:e879 pubmed publisher
    ..In conclusion, regulation of immediate-early gene response by THOC5, a member of mRNA export complex contributes to the M-CSF-induced macrophage differentiation. ..
  41. Joester A, Faissner A. Evidence for combinatorial variability of tenascin-C isoforms and developmental regulation in the mouse central nervous system. J Biol Chem. 1999;274:17144-51 pubmed
    ..We conclude that TN-C is expressed in a complex and regulated pattern in mouse central nervous system. These findings highlight the potential role of TN-C in mediating specific neuron glia interactions. ..
  42. Wagener R, Kobbe B, Aszodi A, Aeschlimann D, Paulsson M. Characterization of the mouse matrilin-4 gene: a 5' antiparallel overlap with the gene encoding the transcription factor RBP-l. Genomics. 2001;76:89-98 pubmed
    ..In situ hybridization of brain sections showed a partially overlapping expression pattern for the two genes. ..
  43. Naumann T, Casademunt E, Hollerbach E, Hofmann J, Dechant G, Frotscher M, et al. Complete deletion of the neurotrophin receptor p75NTR leads to long-lasting increases in the number of basal forebrain cholinergic neurons. J Neurosci. 2002;22:2409-18 pubmed
  44. Dhaunchak A, Nave K. A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease. Proc Natl Acad Sci U S A. 2007;104:17813-8 pubmed
    ..Thus, covalent protein cross-links emerge as a cause, rather than as a consequence, of endoplasmic reticulum retention. ..
  45. Angelotti T, Hofmann F. Tissue-specific expression of splice variants of the mouse voltage-gated calcium channel alpha2/delta subunit. FEBS Lett. 1996;397:331-7 pubmed
    ..Smooth muscle-containing tissues expressed alpha2d and alpha2e. Thus, alpha2/delta isoforms are restricted in their tissue expression, suggesting an important functional role for the differentially spliced variants. ..
  46. Wuechner C, Nordqvist A, Winterpacht A, Zabel B, Schalling M. Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse. Int J Dev Biol. 1996;40:1185-8 pubmed
    ..In contrast, the IIIb splice form was restricted to epithelial structures with no expression detected in the central nervous system and bone. ..
  47. Heinzmann A, Blattmann S, Forster J, Kuehr J, Deichmann K. Common polymorphisms and alternative splicing in the ILT3 gene are not associated with atopy. Eur J Immunogenet. 2000;27:121-7 pubmed
    ..Although no association was found with atopy phenotypes, it might prove useful to test for association with bronchial asthma. ..
  48. Mayerhofer P, Kattenfeld T, Roscher A, Muntau A. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem Biophys Res Commun. 2002;291:1180-6 pubmed
  49. Schornack S, Ballvora A, Gürlebeck D, Peart J, Baulcombe D, Ganal M, et al. The tomato resistance protein Bs4 is a predicted non-nuclear TIR-NB-LRR protein that mediates defense responses to severely truncated derivatives of AvrBs4 and overexpressed AvrBs3. Plant J. 2004;37:46-60 pubmed
    ..However, a direct interaction was not observed. Defense signaling of the Bs4-governed reaction was studied in Nicotiana benthamiana by virus-induced gene silencing and showed that Bs4-mediated resistance is EDS1- and SGT1-dependent. ..
  50. Kins S, Betz H, Kirsch J. Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin. Nat Neurosci. 2000;3:22-9 pubmed
    ..Therefore, this protein may be an important determinant of inhibitory postsynaptic membrane formation and plasticity. ..
  51. Prawitt D, Enklaar T, Klemm G, Gartner B, Spangenberg C, Winterpacht A, et al. Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression. Hum Mol Genet. 2000;9:203-16 pubmed
  52. Derst C, Karschin C, Wischmeyer E, Hirsch J, Preisig Müller R, Rajan S, et al. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. FEBS Lett. 2001;491:305-11 pubmed
    ..When expressed in Xenopus oocytes, Kir5.1 is efficiently targeted to the cell surface and forms electrically silent channels together with Kir2.1, thus negatively controlling Kir2.1 channel activity in native cells. ..
  53. Grundker C, Volker P, Emons G. Antiproliferative signaling of luteinizing hormone-releasing hormone in human endometrial and ovarian cancer cells through G protein alpha(I)-mediated activation of phosphotyrosine phosphatase. Endocrinology. 2001;142:2369-80 pubmed
    ..The tumor LHRH receptor activates a PTP counteracting EGF-induced tyrosine autophosphorylation of EGF receptor, resulting in down-regulation of mitogenic signal transduction and cell proliferation. ..
  54. Wirth B, Brichta L, Hahnen E. Spinal muscular atrophy and therapeutic prospects. Prog Mol Subcell Biol. 2006;44:109-32 pubmed
    ..However, phase III double-blind placebo controlled clinical trials have to finally prove the efficacy of these drugs. ..
  55. Puig O, Gottschalk A, Fabrizio P, Seraphin B. Interaction of the U1 snRNP with nonconserved intronic sequences affects 5' splice site selection. Genes Dev. 1999;13:569-80 pubmed
    ..This supports a model where early 5' splice recognition results from a network of interactions established by the splicing machinery with various regions of the pre-mRNA. ..
  56. Wang X, Kibschull M, Laue M, Lichte B, Petrasch Parwez E, Kilimann M. Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin. J Cell Biol. 1999;147:151-62 pubmed
    ..We propose that aczonin is a scaffolding protein involved in the organization of the molecular architecture of synaptic active zones and in the orchestration of neurotransmitter vesicle trafficking. ..
  57. Beimesche S, Neubauer A, Herzig S, Grzeskowiak R, Diedrich T, Cierny I, et al. Tissue-specific transcriptional activity of a pancreatic islet cell-specific enhancer sequence/Pax6-binding site determined in normal adult tissues in vivo using transgenic mice. Mol Endocrinol. 1999;13:718-28 pubmed
    ..The lack of PISCES-mediated transcription in adult islets indicates that the Pax6 protein(s) expressed in adult pancreatic islets function differently from the ones in the eye and cerebellum. ..
  58. Wolf S, Mertens D, Schaffner C, Korz C, Dohner H, Stilgenbauer S, et al. B-cell neoplasia associated gene with multiple splicing (BCMS): the candidate B-CLL gene on 13q14 comprises more than 560 kb covering all critical regions. Hum Mol Genet. 2001;10:1275-85 pubmed
    ..Due to the limited understanding of functional RNAs, however, it remains difficult to prove the pathogenic role of BCMS. ..
  59. Waibler Z, Schafer A, Starzinski Powitz A. mARVCF cellular localisation and binding to cadherins is influenced by the cellular context but not by alternative splicing. J Cell Sci. 2001;114:3873-84 pubmed
    ..Our results suggest that the subcellular localisation of mARVCF may be determined not only by the presence or absence of an appropriate interaction partner, in this case cadherins, but also by the cellular context. ..
  60. Deininger M, Meyermann R, Schluesener H. The allograft inflammatory factor-1 family of proteins. FEBS Lett. 2002;514:115-21 pubmed
    ..In this review, genomic and functional characteristics of AIF-1-related proteins are summarized and a common nomenclature is proposed. ..
  61. Naumann F, Remus R, Schmitz B, Doerfler W. Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). Genomics. 2004;83:106-18 pubmed
    ..Complete in vitro methylation inactivates the promoter, which is unmethylated in human cells as shown by bisulfite genomic sequencing. ..
  62. Jablonka S, Wiese S, Sendtner M. Axonal defects in mouse models of motoneuron disease. J Neurobiol. 2004;58:272-86 pubmed
    ..Thus, defects in axon maintenance could play a leading role in the development of several forms of human motoneuron disease. ..
  63. Rossler T, Marschalek R. An alternative splice process renders the MLL protein either into a transcriptional activator or repressor. Pharmazie. 2013;68:601-7 pubmed
    ..This changes the biological properties of the MLL protein, thereby influencing its ability of being either a transcriptional activator or repressor. ..
  64. Kerber G, Streif R, Schwaiger F, Kreutzberg G, Hager G. Neuregulin-1 isoforms are differentially expressed in the intact and regenerating adult rat nervous system. J Mol Neurosci. 2003;21:149-65 pubmed
    ..The splice variants beta2 and beta4 display an initial downregulation of mRNA levels, followed by an increase during the period of axon remyelination. Thus, Nrg- 1-beta2 and -beta4 might be involved in myelination. ..
  65. Gisselmann G, Wetzel C, Warnstedt M, Hatt H. Functional characterization of Ih-channel splice variants from Apis mellifera. FEBS Lett. 2004;575:99-104 pubmed
    ..In vertebrates, functional diversity of Ih-channels is generated by four different genes. In Apis mellifera, splice variants coded by the single gene AMIH could generate a similar diversity. ..
  66. Herweg J, Schwarz G. Splice-specific glycine receptor binding, folding, and phosphorylation of the scaffolding protein gephyrin. J Biol Chem. 2012;287:12645-56 pubmed publisher
    ..We propose two models for the domain arrangement in hexameric gephyrin based on the oligomerization of either the E or C domains, with the latter being crucial for the regulation of gephyrin clustering. ..
  67. Springer H, Schramm M, Taylor G, Howard J. Irgm1 (LRG-47), a regulator of cell-autonomous immunity, does not localize to mycobacterial or listerial phagosomes in IFN-?-induced mouse cells. J Immunol. 2013;191:1765-74 pubmed publisher
    ..We discuss these findings in the context of evidence that Irgm1 functions as a negative regulator of other members of the immunity-related GTPase protein family. ..
  68. Patzke H, Ernsberger U. Expression of neurexin Ialpha splice variants in sympathetic neurons: selective changes during differentiation and in response to neurotrophins. Mol Cell Neurosci. 2000;15:561-72 pubmed
    ..Our data suggest that changes in neurexin splice variants contribute to alterations of neuronal cell surface properties during target innervation. ..
  69. Uhmann A, Ferch U, Bauer R, Tauber S, Arziman Z, Chen C, et al. A model for PTCH1/Ptch1-associated tumors comprising mutational inactivation and gene silencing. Int J Oncol. 2005;27:1567-75 pubmed
    ..These latter agents could be effective in treatment of, at least, some tumors associated with loss of PTCH1 function. ..
  70. Rot S, Taubert H, Bache M, Greither T, Wurl P, Eckert A, et al. A novel splice variant of the stem cell marker LGR5/GPR49 is correlated with the risk of tumor-related death in soft-tissue sarcoma patients. BMC Cancer. 2011;11:429 pubmed publisher
    ..Additionally, a lower GPR49?5 mRNA level is associated with a later age of tumor onset. A putative role of GPR49?5 expression in tumorigenesis and tumor progression of soft tissue sarcomas is suggested. ..
  71. Eisenreich A, Zakrzewicz A, Huber K, Thierbach H, Pepke W, Goldin Lang P, et al. Regulation of pro-angiogenic tissue factor expression in hypoxia-induced human lung cancer cells. Oncol Rep. 2013;30:462-70 pubmed publisher
    ..Taken together, our results suggest that the pro-angiogenic potential of A549 lung cancer cells is modulated under hypoxic conditions via modulation of TF isoform expression which in turn is controlled by alternative splicing. ..
  72. Sleeman J, Rahmsdorf U, Steffen A, Ponta H, Herrlich P. CD44 variant exon v5 encodes a tyrosine that is sulphated. Eur J Biochem. 1998;255:74-80 pubmed
    ..These results demonstrate that the tyrosine-sulphation motif within rat CD44 exon v5 is used in vivo, and suggest that exon v5 may be involved in mediating CD44 ligand binding-activity by means of its sulphated tyrosine. ..
  73. Schlott T, Taubert H, Fayyazi A, Schweyer S, Bartel F, Korabiowska M, et al. Analysis of central regulatory pathways in p53-deficient primary cultures of malignant fibrous histiocytoma exposed to ifosfamide. Anticancer Res. 2004;24:3819-29 pubmed
    ..Further experiments are necessary to test whether the novel candidate genes favor development of chemoresistance and whether MDM2 mRNA splicing variants contribute to this process in vivo. ..
  74. Bauer N, Richter Landsberg C. The dynamic instability of microtubules is required for aggresome formation in oligodendroglial cells after proteolytic stress. J Mol Neurosci. 2006;29:153-68 pubmed
    ..Furthermore, the binding of stress-induced alphaBcrystallin to the MTs points to a possible protective role during disease progression. ..
  75. Mittelstaedt T, Schoch S. Structure and evolution of RIM-BP genes: identification of a novel family member. Gene. 2007;403:70-9 pubmed
    ..The modular domain structure of RIM-BPs, their expression pattern and the conservative expansion during evolution shown here support their potential role as important molecular adaptors. ..
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