Experts and Doctors on alternative splicing in Baltimore, Maryland, United States


Locale: Baltimore, Maryland, United States
Topic: alternative splicing

Top Publications

  1. Tiwari S, Zhang Y, Heller J, Abernethy D, Soldatov N. Atherosclerosis-related molecular alteration of the human CaV1.2 calcium channel alpha1C subunit. Proc Natl Acad Sci U S A. 2006;103:17024-9 pubmed
    ..2alpha1 gene in the human artery that causes molecular and electrophysiological remodeling of Ca(v)1.2 calcium channels and possibly affects VSMC proliferation. ..
  2. Ma D, Nakata T, Zhang G, Hoshi T, Li M, Shikano S. Differential trafficking of carboxyl isoforms of Ca2+-gated (Slo1) potassium channels. FEBS Lett. 2007;581:1000-8 pubmed
    ..The results together support the notion that Slo1_DEC nucleates isoform-specific protein complexes and possesses a cis element(s) for regulating trafficking of the Slo1 channels. ..
  3. Hiel H, Luebke A, Fuchs P. Cloning and expression of the alpha9 nicotinic acetylcholine receptor subunit in cochlear hair cells of the chick. Brain Res. 2000;858:215-25 pubmed
    ..These findings suggest that alpha9 contributes to the ACh receptor of avian hair cells and supports the generality of this hypothesis among all vertebrates. ..
  4. Murray Stewart T, Wang Y, Devereux W, Casero R. Cloning and characterization of multiple human polyamine oxidase splice variants that code for isoenzymes with different biochemical characteristics. Biochem J. 2002;368:673-7 pubmed
  5. Kofuji P, Lederer W, Schulze D. Mutually exclusive and cassette exons underlie alternatively spliced isoforms of the Na/Ca exchanger. J Biol Chem. 1994;269:5145-9 pubmed
    ..This unusual arrangement of exons in the Na/Ca exchanger gene could allow for the generation of up to 32 different Na/Ca exchanger mRNAs and accounts for the isoforms identified to date. ..
  6. Huang Y, Kim Y, Li Z, Fomenkov T, Fomenkov A, Ratovitski E. AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling. Cell Cycle. 2005;4:1440-7 pubmed
    ..The truncated p63 failed to associate with the C-terminal domain of RNA polymerase II through SRA4 protein and, therefore affected keratinocyte proliferation, differentiation and survival and may strongly contribute to AEC phenotype. ..
  7. Ruggles K, Tang Z, Wang X, Grover H, Askenazi M, Teubl J, et al. An Analysis of the Sensitivity of Proteogenomic Mapping of Somatic Mutations and Novel Splicing Events in Cancer. Mol Cell Proteomics. 2016;15:1060-71 pubmed publisher
  8. Chu S, Murray C, Liu M, Zeitlin P. A short CIC-2 mRNA transcript is produced by exon skipping. Nucleic Acids Res. 1996;24:3453-7 pubmed
  9. Ursitti J, Petrich B, Lee P, Resneck W, Ye X, Yang J, et al. Role of an alternatively spliced form of alphaII-spectrin in localization of connexin 43 in cardiomyocytes and regulation by stress-activated protein kinase. J Mol Cell Cardiol. 2007;42:572-81 pubmed

More Information


  1. Sumner C. Molecular mechanisms of spinal muscular atrophy. J Child Neurol. 2007;22:979-89 pubmed
    ..Histone deacetylase inhibitors will be discussed as an example. ..
  2. Bian Y, Xu C, Li J, Xu J, Zhang H, Du S. Development of a transgenic zebrafish model expressing GFP in the notochord, somite and liver directed by the hfe2 gene promoter. Transgenic Res. 2011;20:787-98 pubmed publisher
    ..Moreover, the Tg(hfe2:gfp) transgenic zebrafish line provides a useful model system for analyzing liver development in zebrafish. ..
  3. Chiocco M, Zhu X, Walther D, Pletnikova O, Troncoso J, Uhl G, et al. Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease. Subst Use Misuse. 2010;45:1809-26 pubmed publisher
    ..These data underscore the importance of calcineurin gene in the molecular mechanism of addiction and Alzheimer's diseases. ..
  4. Hu R, Dunn T, Wei S, Isharwal S, Veltri R, Humphreys E, et al. Ligand-independent androgen receptor variants derived from splicing of cryptic exons signify hormone-refractory prostate cancer. Cancer Res. 2009;69:16-22 pubmed publisher
    ..In addition, as expression markers for lethal PCa, these novel AR variants may be explored as potential biomarkers and therapeutic targets for advanced PCa. ..
  5. Zhang X, Mok L, Katz E, Gold M. BKCa currents are enriched in a subpopulation of adult rat cutaneous nociceptive dorsal root ganglion neurons. Eur J Neurosci. 2010;31:450-62 pubmed publisher
    ..Because even a small decrease in BK(Ca) current appears to have a dramatic influence on excitability, modulation of this current may contribute to sensitization of nociceptive afferents observed following tissue injury. ..
  6. Deschenes I, Disilvestre D, Juang G, Wu R, An W, Tomaselli G. Regulation of Kv4.3 current by KChIP2 splice variants: a component of native cardiac I(to)?. Circulation. 2002;106:423-9 pubmed
  7. Wang Y, Kowalski J, Tsai H, Marik R, Prasad N, Somervell H, et al. Differentiating alternative splice variant patterns of human telomerase reverse transcriptase in thyroid neoplasms. Thyroid. 2008;18:1055-63 pubmed publisher
    ..These differences in gene expression patterns of hTERT alternative splice variants may provide a useful adjunct to FNA diagnosis of suspicious thyroid tumors. ..
  8. Chen T, Tompkins L, Li L, Li H, Kim G, Zheng Y, et al. A single amino acid controls the functional switch of human constitutive androstane receptor (CAR) 1 to the xenobiotic-sensitive splicing variant CAR3. J Pharmacol Exp Ther. 2010;332:106-15 pubmed publisher
    ..Activation of hCAR1+A may represent a sensitive avenue for the identification of hCAR activators. ..
  9. Liu M, Zack D. Alternative splicing and retinal degeneration. Clin Genet. 2013;84:142-9 pubmed publisher
    ..The development of novel therapeutic strategies to modulate aberrant splicing, including small molecule-based therapies, has the potential to lead to new treatments for retinal degenerative diseases. ..
  10. Guo T, Sakai A, Afsari B, Considine M, Danilova L, Favorov A, et al. A Novel Functional Splice Variant of AKT3 Defined by Analysis of Alternative Splice Expression in HPV-Positive Oropharyngeal Cancers. Cancer Res. 2017;77:5248-5258 pubmed publisher
    ..i>Cancer Res; 77(19); 5248-58. ©2017 AACR. ..
  11. Zhang Y, Resneck W, Lee P, Randall W, Bloch R, Ursitti J. Characterization and expression of a heart-selective alternatively spliced variant of alpha II-spectrin, cardi+, during development in the rat. J Mol Cell Cardiol. 2010;48:1050-9 pubmed publisher
    ..Our results suggest that the embryonic mammalian heart expresses a significant amount of alpha II-spectrin with a reduced avidity for beta-spectrin and the ability to promote myocyte growth. ..
  12. Riazuddin S, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, et al. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet. 2010;86:805-12 pubmed publisher
    ..Understanding the role of this additional sequence might therefore inform the mechanism of retinal degeneration in patients with syndromic BBS or other related ciliopathies. ..
  13. Chu S, Zeitlin P. Alternative mRNA splice variants of the rat ClC-2 chloride channel gene are expressed in lung: genomic sequence and organization of ClC-2. Nucleic Acids Res. 1997;25:4153-9 pubmed
    ..These observations suggest that ClC-1 and ClC-2 may have evolved by gene duplication, mutation and DNA rearrangement. ..
  14. Zhou D, Birkenmeier C, Williams M, Sharp J, Barker J, Bloch R. Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle. J Cell Biol. 1997;136:621-31 pubmed
  15. Emerick M, Parmigiani G, Agnew W. Multivariate analysis and visualization of splicing correlations in single-gene transcriptomes. BMC Bioinformatics. 2007;8:16 pubmed
    ..The methods have a broad scope of applicability, beyond the single gene--including, for example, multiple gene interactions in the complete transcriptome. ..
  16. Ingersoll R, Paznekas W, Tran A, Scott A, Jiang G, Jabs E. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet. 2001;94:121-6 pubmed
    ..This collection of SNP, insertion, and repeat polymorphisms will aid future association studies between the FGFR2 gene and human disease and will enhance mutation detection. ..
  17. Darby M, Leek J, Langmead B, Yolken R, Sabunciyan S. Widespread splicing of repetitive element loci into coding regions of gene transcripts. Hum Mol Genet. 2016;25:4962-4982 pubmed publisher
    ..Our results demonstrate that RE expression is more complex than previously envisioned and raise the possibility that RE splicing might generate functional protein isoforms. ..
  18. Muriel J, Dong C, Vogel B. Distinct regions within fibulin-1D modulate interactions with hemicentin. Exp Cell Res. 2012;318:2543-7 pubmed publisher
    ..Together, the data suggests that EGF repeats 4 and 5 promote interaction with hemicentin while a region within EGF2D suppresses ectopic interactions with hemicentin and this suppression may be protease dependent. ..
  19. Tan X, Rotllant J, Li H, De Deyne P, DeDeyne P, Du S. SmyD1, a histone methyltransferase, is required for myofibril organization and muscle contraction in zebrafish embryos. Proc Natl Acad Sci U S A. 2006;103:2713-8 pubmed
    ..Together, these data indicate that SmyD1a and SmyD1b are histone methyltransferases and play a critical role in myofibril organization during myofiber maturation. ..
  20. Meyers G, Day D, Goldberg R, Daentl D, Przylepa K, Abrams L, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996;58:491-8 pubmed
  21. Gong J, Xu J, Bezanilla M, van Huizen R, Derin R, Li M. Differential stimulation of PKC phosphorylation of potassium channels by ZIP1 and ZIP2. Science. 1999;285:1565-9 pubmed
    ..Finally, ZIP1 and ZIP2 coexist in the same cell type and are elevated differentially by neurotrophic factors. These results provide a mechanism for specificity and regulation of PKCzeta-targeted phosphorylation. ..
  22. Shen R, Tai H. Thromboxanes: synthase and receptors. J Biomed Sci. 1998;5:153-72 pubmed
    ..Future investigation should shed light on detailed molecular signaling events specifying thromboxane A2 actions, and the genetic underpinning of the enzyme and the receptors in health and disease. ..
  23. Liu C, Levenstein M, Chen J, Tsifrina E, Yonescu R, Griffin C, et al. SZF1: a novel KRAB-zinc finger gene expressed in CD34+ stem/progenitor cells. Exp Hematol. 1999;27:313-25 pubmed
    ..The expression pattern of SZF1 transcripts and the transcriptional repression of a CD34+-specific promoter demonstrate a possible role for SZF1 in hematopoietic stem/progenitor cell differentiation. ..
  24. Mittman S, Guo J, Agnew W. Structure and alternative splicing of the gene encoding alpha1G, a human brain T calcium channel alpha1 subunit. Neurosci Lett. 1999;274:143-6 pubmed
    ..Additionally, the RNA can be polyadenylated at either of two sites. Alternative splicing of CACNA1G RNA may lead to expression of as many as 24 distinct protein products, ranging from 2171 to 2377 amino-acids residues. ..
  25. Vorovich E, Ratovitski E. Dual regulation of TERT activity through transcription and splicing by DeltaNP63alpha. Aging (Albany NY). 2008;1:58-67 pubmed
    ..This dual molecular mechanism of telomerase regulation might underline the previously shown effect of DeltaNp63alpha on premature ageing phenotype. ..
  26. Paun A, Reinert J, Jiang Z, Medin C, Balkhi M, Fitzgerald K, et al. Functional characterization of murine interferon regulatory factor 5 (IRF-5) and its role in the innate antiviral response. J Biol Chem. 2008;283:14295-308 pubmed publisher
    ..Altogether, these data reveal the cell type-specific importance of IRF-5 in MyD88-mediated antiviral pathways and the widespread role of IRF-5 in the regulation of inflammatory cytokines. ..
  27. Hishimoto A, Liu Q, Drgon T, Pletnikova O, Walther D, Zhu X, et al. Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms. Hum Mol Genet. 2007;16:2880-91 pubmed
  28. Hamlington J, Clough M, Dunston J, McIntosh I. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. Eur J Hum Genet. 2000;8:311-4 pubmed
    ..RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented. ..
  29. Martin H, Lee J, Walls D, Hayward S. Manipulation of the toll-like receptor 7 signaling pathway by Epstein-Barr virus. J Virol. 2007;81:9748-58 pubmed
    ..EBV therefore initially uses TLR7 signaling to enhance B-cell proliferation and subsequently modifies the pathway to regulate IRF-5 activity. ..
  30. Liu Z, Kamatchi G, Moreira T, Mu W, Burt D. The alpha5 subunit of the murine type A GABA receptor. Brain Res Mol Brain Res. 1998;59:84-9 pubmed
    ..Finally, we present preliminary evidence for rare alternative splicing of this subunit's message, in the N-terminal extracellular domain, to give a form not translatable into a functional protein. ..
  31. Wang Y, Devereux W, Woster P, Casero R. Cloning and characterization of the mouse polyamine-modulated factor-1 (mPMF-1) gene: an alternatively spliced homologue of the human transcription factor. Biochem J. 2001;359:387-92 pubmed
    ..Finally, the expression of mPMF-1 is induced when mouse M1 myeloid leukaemia cells are exposed to polyamine analogues, suggesting control similar to that observed for the hPMF-1...
  32. Yoo J, Huso D, Nathans D, Desiderio S. Specific ablation of Stat3beta distorts the pattern of Stat3-responsive gene expression and impairs recovery from endotoxic shock. Cell. 2002;108:331-44 pubmed
    ..The hepatic response to endotoxin in wild-type mice is accompanied by a transient increase in the ratio of Stat3beta to Stat3alpha. These findings indicate a critical role for Stat3beta in the control of systemic inflammation. ..
  33. Luzina I, Lockatell V, Lavania S, Pickering E, Kang P, Bashkatova Y, et al. Natural production and functional effects of alternatively spliced interleukin-4 protein in asthma. Cytokine. 2012;58:20-6 pubmed publisher
    ..Alternatively spliced interleukin-4 may be a new biomarker, a pathophysiological player, and possibly a molecular target for future therapies in asthma. ..
  34. Schulze D, Kofuji P, Valdivia C, He S, Luo S, Ruknudin A, et al. Alternative splicing of the Na(+)-Ca2+ exchanger gene, NCX1. Ann N Y Acad Sci. 1996;779:46-57 pubmed
    ..Finally, sequence comparison of the various molecules demonstrates that structural characteristics of these molecules are more strongly conserved than the primary sequence of these products. ..
  35. Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould S, et al. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. Am J Hum Genet. 2005;76:987-1007 pubmed
    ..This model predicts that, once activated in an extraperoxisomal location, PEX1 moves to the peroxisome and completes the function of the PEX1/6 heterodimer. ..
  36. Panda A, Grammatikakis I, Yoon J, Abdelmohsen K. Posttranscriptional regulation of insulin family ligands and receptors. Int J Mol Sci. 2013;14:19202-29 pubmed publisher
    ..Due to the pathological impacts of insulin system, we also discussed the possibilities of discovering new potential regulators which will improve understanding of insulin system and associated diseases. ..
  37. Khan A, Bose C, Yam L, Soloski M, Rupp F. Physiological regulation of the immunological synapse by agrin. Science. 2001;292:1681-6 pubmed
    ..Our data show that agrin induces the aggregation of signaling proteins and the creation of signaling domains in both immune and nervous systems through a common lipid raft pathway. ..
  38. Yang H, Shen L, Siliciano R, Pomerantz J. Isolation of a cellular factor that can reactivate latent HIV-1 without T cell activation. Proc Natl Acad Sci U S A. 2009;106:6321-6 pubmed publisher
    ..Our results highlight the therapeutic potential of cellular factors for the reactivation of latent HIV-1 and provide an efficient approach for their identification. ..
  39. Rudnicki D, Holmes S, Lin M, Thornton C, Ross C, Margolis R. Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol. 2007;61:272-82 pubmed
    ..The goal of this study, therefore, was to test the plausibility of an RNA gain-of-function component in the pathogenesis of HDL2...
  40. Song L, Florea L. CLASS: constrained transcript assembly of RNA-seq reads. BMC Bioinformatics. 2013;14 Suppl 5:S14 pubmed publisher
    ..CLASS is available from ..
  41. Hong S, Rhyne J, Miller M. Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. Circ Res. 2003;93:1006-12 pubmed
  42. Murray Stewart T, Wang Y, Goodwin A, Hacker A, Meeker A, Casero R. Nuclear localization of human spermine oxidase isoforms - possible implications in drug response and disease etiology. FEBS J. 2008;275:2795-806 pubmed publisher
  43. Gan Q, Chepelev I, Wei G, Tarayrah L, Cui K, Zhao K, et al. Dynamic regulation of alternative splicing and chromatin structure in Drosophila gonads revealed by RNA-seq. Cell Res. 2010;20:763-83 pubmed publisher
    ..The GEO accession number for the raw and analyzed RNA-seq data is GSE16960. ..
  44. Moskaluk C, Hruban H, Lietman A, Smyrk T, Fusaro L, Fusaro R, et al. Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. Hum Mutat. 1998;12:70 pubmed
    ..This coding change is not a known polymorphism, and occurs at a codon position in which another missese/splicing change has been shown to be linked to familial melanoma/pancreas cancer. ..
  45. Mittman S, Guo J, Emerick M, Agnew W. Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit. Neurosci Lett. 1999;269:121-4 pubmed
    ..Molecular diversity generated by alternative splicing and post-translational modification of this and other members of the T alpha1 subunit gene family may account for the observed heterogeneity of T currents in central neurons. ..
  46. Chung S, Chavez C, Andrew D. Trachealess (Trh) regulates all tracheal genes during Drosophila embryogenesis. Dev Biol. 2011;360:160-72 pubmed publisher
    ..Finally, genome-wide microarray experiments identified additional Trh targets and revealed that a variety of biological processes are affected by the loss of trh. ..
  47. Liu Q, Pan C, Hishimoto A, Li C, Xi Z, Llorente Berzal A, et al. Species differences in cannabinoid receptor 2 (CNR2 gene): identification of novel human and rodent CB2 isoforms, differential tissue expression and regulation by cannabinoid receptor ligands. Genes Brain Behav. 2009;8:519-30 pubmed publisher
    ..These results provide much improved information about CB2 gene structure and its human and rodent variants that should be considered in developing CB2-R-based therapeutic agents. ..
  48. Badano J, Ansley S, Leitch C, Lewis R, Lupski J, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003;72:650-8 pubmed
  49. Guilarte T, McGlothan J. Selective decrease in NR1 subunit splice variant mRNA in the hippocampus of Pb2+-exposed rats: implications for synaptic targeting and cell surface expression of NMDAR complexes. Brain Res Mol Brain Res. 2003;113:37-43 pubmed
  50. Ackermann M, Patel P, Valenti J, Takagi Y, Homsher E, Sellers J, et al. Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. FASEB J. 2013;27:3217-28 pubmed publisher
  51. Onuchic L, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002;70:1305-17 pubmed
  52. Mu W, Cheng Q, Yang J, Burt D. Alternative splicing of the GABA(A) receptor alpha 4 subunit creates a severely truncated mRNA. Brain Res Bull. 2002;58:447-54 pubmed
    ..Thus, the truncated alpha 4 N-terminus may play a post-translational regulatory role in intracellular folding/glycosylation/assembly of the alpha 4 subunit. ..
  53. Sherman P, Sun H, Macke J, Williams J, Smallwood P, Nathans J. Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C. Proc Natl Acad Sci U S A. 1997;94:11639-44 pubmed
  54. Bergin A, Kim G, Price D, Sisodia S, Lee M, Rabin B. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene. 1997;204:47-53 pubmed
    ..In-situ hybridization analysis of the mouse nervous system revealed that MoSMN mRNA is expressed in spinal cord and throughout the brain, with relatively higher levels of expression in the hippocampus and cerebellum. ..
  55. Brösamle C, Halpern M. Nogo-Nogo receptor signalling in PNS axon outgrowth and pathfinding. Mol Cell Neurosci. 2009;40:401-9 pubmed publisher
    ..We propose that localized Nogo expression defines inhibitory territories that through repulsion restrict axon growth to permissive regions. ..
  56. Mao P, Tao Y, Fukaya M, Tao F, Li D, Watanabe M, et al. Cloning and characterization of E-dlg, a novel splice variant of mouse homologue of the Drosophila discs large tumor suppressor binds preferentially to SAP102. IUBMB Life. 2008;60:684-92 pubmed publisher
    ..4 in a pull-down assay. E-dlg was highly expressed in embryonic and some adult mouse tissues, such as brain, kidney, and ovary. Furthermore, in situ hybridization showed that E-dlg was mostly expressed in olfactory bulb and cerebellum. ..
  57. Haga S, Fu S, Karp J, Ross D, Williams D, Hankins W, et al. BP1, a new homeobox gene, is frequently expressed in acute leukemias. Leukemia. 2000;14:1867-75 pubmed
    ..The presence of BP1 RNA in leukemic blasts may therefore be a molecular marker for primitive cells and/or may indicate that BP1 is an important upstream factor in an oncogenic pathway. ..
  58. Zhong X, Liu J, Kyle J, Hanck D, Agnew W. A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. Hum Mol Genet. 2006;15:1497-512 pubmed
    ..We discuss a paradigm for CACNA1H expression of Ca(v)3.2 subunits, which may influence future basic and clinical studies. ..
  59. Bruce H, Margolis R. FOXP2: novel exons, splice variants, and CAG repeat length stability. Hum Genet. 2002;111:136-44 pubmed
    ..This demonstration of additional FOXP2 exons and splice variants should facilitate understanding of FOXP2 function and the search for additional FOXP2 mutations. ..
  60. Nucifora F, Li S, Danoff S, Ullrich A, Ross C. Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant. Brain Res Mol Brain Res. 1995;32:291-6 pubmed
    ..The sequence of the longer form in human appears to create an additional consensus protein kinase C phosphorylation site. ..
  61. Rhyne J, Mantaring M, Gardner D, Miller M. Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease. BMC Med Genet. 2009;10:1 pubmed publisher
    ..We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L]) and a family history of premature coronary heart disease (CHD) using polymerase chain reaction single-strand conformation polymorphism (SSCP) analysis...
  62. Bolan E, Kivell B, Jaligam V, Oz M, Jayanthi L, Han Y, et al. D2 receptors regulate dopamine transporter function via an extracellular signal-regulated kinases 1 and 2-dependent and phosphoinositide 3 kinase-independent mechanism. Mol Pharmacol. 2007;71:1222-32 pubmed
    ..Our data also suggest the possibility of a direct physical interaction between DAT and D(2)R. Together, these results suggest a novel mechanism by which D(2S)R autoreceptors may regulate DAT in the central nervous system. ..
  63. Hurt K, Sezen S, Champion H, Crone J, Palese M, Huang P, et al. Alternatively spliced neuronal nitric oxide synthase mediates penile erection. Proc Natl Acad Sci U S A. 2006;103:3440-3 pubmed
    ..Thus, alternatively spliced forms of nNOS are major mediators of penile erection and so may be targets for therapeutic intervention. ..
  64. Liu Q, Lu L, Zhu X, Gong J, Shaham Y, Uhl G. Rodent BDNF genes, novel promoters, novel splice variants, and regulation by cocaine. Brain Res. 2006;1067:1-12 pubmed
    ..These data suggest a role of specific BDNF promoter regions and regulatory sequences in stimulant-induced alterations in BDNF expression, and in the alterations that changed BDNF expression is likely to confer in the brain. ..
  65. Lu M, Lee M, Smith B, Jung J, Agre P, Verdijk M, et al. The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. Proc Natl Acad Sci U S A. 1996;93:10908-12 pubmed
    ..2 and q12.1 by fluorescence in situ hybridization. These studies may now permit molecular characterization of AQP4 during human development and in clinical disorders. ..
  66. Muriel J, Dong C, Hutter H, Vogel B. Fibulin-1C and Fibulin-1D splice variants have distinct functions and assemble in a hemicentin-dependent manner. Development. 2005;132:4223-34 pubmed
    ..We suggest that the distinct developmental roles and hemicentin-dependent assembly for fibulin-1 splice variants demonstrated here may be relevant to fibulin-1 and possibly other fibulin family members in non-nematode species. ..
  67. Gerzanich V, Ivanov A, Ivanova S, Yang J, Zhou H, Dong Y, et al. Alternative splicing of cGMP-dependent protein kinase I in angiotensin-hypertension: novel mechanism for nitrate tolerance in vascular smooth muscle. Circ Res. 2003;93:805-12 pubmed
    ..Our data identify a functional role for cGKIbeta in VSMCs previously ascribed exclusively to cGKIalpha. Ang-induced alternative splicing of cGKI represents a novel mechanism for reducing sensitivity to NO/cGMP. ..
  68. Radhakrishnan A, Nanjappa V, Raja R, Sathe G, Chavan S, Nirujogi R, et al. Dysregulation of splicing proteins in head and neck squamous cell carcinoma. Cancer Biol Ther. 2016;17:219-29 pubmed publisher
    ..Our results indicate that phosphorylation of SRPK2 plays a crucial role in the regulation of splicing process in HNSCC and that splicing kinases can be developed as a new class of therapeutic target in HNSCC. ..
  69. Wang J, Johnson P, Imai Y, Persico A, Ozenberger B, Eppler C, et al. cDNA cloning of an orphan opiate receptor gene family member and its splice variant. FEBS Lett. 1994;348:75-9 pubmed
    ..These studies identify an orphan clone that helps to define features of the opiate receptor gene family, including apparent differential splicing and expression in peripheral tissues. ..
  70. Hefferon T, Broackes Carter F, Harris A, Cutting G. Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. Am J Hum Genet. 2002;71:294-303 pubmed
    ..Thus, careful inspection of entire 5' splice sites may identify constitutive exons that are vulnerable to skipping. ..
  71. Sun L, Vitolo M, Qiao M, Anglin I, Passaniti A. Regulation of TGFbeta1-mediated growth inhibition and apoptosis by RUNX2 isoforms in endothelial cells. Oncogene. 2004;23:4722-34 pubmed
    ..The exon 8 domain of RUNX2 may contribute to the strong repression activity of RUNX2 for some target gene promoters. ..
  72. Nelson A, Loy D, Lawson J, Katseff A, Fitzgerald G, Garza L. Prostaglandin D2 inhibits wound-induced hair follicle neogenesis through the receptor, Gpr44. J Invest Dermatol. 2013;133:881-9 pubmed publisher
    ..In all, these findings demonstrate that PGD2 inhibits hair follicle regeneration through the Gpr44 receptor and imply that inhibition of PGD2 production or Gpr44 signaling will promote skin regeneration...