2019
Altered allostery of the left flipper domain underlies the weak ATP response of rat P2X5 receptors
Sun L, Liu Y, Wang J, Huang L, Yang Y, Cheng X, Fan Y, Zhu M, Liang H, Tian Y, Wang H, Guo C, Yu Y. Altered allostery of the left flipper domain underlies the weak ATP response of rat P2X5 receptors. Journal Of Biological Chemistry 2019, 294: 19589-19603. PMID: 31727741, PMCID: PMC6926468, DOI: 10.1074/jbc.ra119.009959.Peer-Reviewed Original ResearchConceptsFuture transgenic studiesFull-length variantATP responseTransmembrane domainTransgenic studiesMammalian speciesP2X5 receptorsAllosteryPathological functionsSingle replacementSingle-channel recordingsSkeletal muscleExon 10Molecular modelingFunctional subtypesATPResiduesNervous systemP2X5ReceptorsDomainMammalsSpeciesTM2Lack of knowledge
2018
Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations
Lezon-Geyda K, Rose M, McNaull M, Knoll C, Yaish H, Pastore Y, Fermi E, Glader B, Bianchi P, Grace R, Gallagher P. Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations. Blood 2018, 132: 3607. DOI: 10.1182/blood-2018-99-117805.Peer-Reviewed Original ResearchWhole-genome sequencingPyruvate kinase-deficient patientsSplice siteDonor splice sitePyruvate kinasePK-deficient patientsGenome sequencingPKLR geneSequence analysisWhole-exome sequencingIntron mutationsDominant negative phenotypeExon 7Exon 10Detailed sequence analysisPyruvate kinase geneDisease-Associated VariantsRare genetic variantsNormal mRNA processingSplice acceptor siteRegion mutationsIntron retentionErythroid promoterGenome databasePremature chain termination
2008
Alternative splicing of the mouse embryonic poly(A) binding protein (Epab) mRNA is regulated by an exonic splicing enhancer: a model for post-transcriptional control of gene expression in the oocyte
Seli E, Yaba A, Guzeloglu-Kayisli O, Lalioti MD. Alternative splicing of the mouse embryonic poly(A) binding protein (Epab) mRNA is regulated by an exonic splicing enhancer: a model for post-transcriptional control of gene expression in the oocyte. Molecular Human Reproduction 2008, 14: 393-398. PMID: 18492745, PMCID: PMC2453241, DOI: 10.1093/molehr/gan028.Peer-Reviewed Original ResearchConceptsExonic splicing enhancersAlternative splicing variantsSingle nucleotide polymorphismsAlternative splicingSplicing variantsSplicing enhancersExon 10Post-transcriptional controlMRNA alternative splicingEarly preimplantation embryosOocyte-specific proteinRNA editingMaternal mRNAsEarly embryosMouse embryonicBinding protein mRNAReal-time RT-PCR resultsGene expressionPreimplantation embryosSpliced formsSame locusSequence analysisBinding proteinSplicingParental origin
2002
Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting
Bruscia E, Sangiuolo F, Sinibaldi P, Goncz KK, Novelli G, Gruenert DC. Isolation of CF cell lines corrected at ΔF508-CFTR locus by SFHR-mediated targeting. Gene Therapy 2002, 9: 683-685. PMID: 12032687, DOI: 10.1038/sj.gt.3301741.Peer-Reviewed Original ResearchConceptsSmall fragment homologous replacementAllele-specific PCRPrimer extension productsCell linesCFTR mRNAHuman airway epithelial cellsAllele-specific PCR amplificationΔF508 mutationCF transmembrane conductance regulator (CFTR) proteinExon 10CF cell lineMutant cell linesPCR amplificationAirway epithelial cellsEpithelial cellsGenomic DNA fingerprintingEndogenous CFTRHomologous replacementRegulator proteinDNA fingerprint analysisGenomic DNAWT mRNADNA fragmentsΔF508 alleleSequence analysis
1999
CFTR is functionally active in GnRH-expressing GT1–7 hypothalamic neurons
Weyler R, Yurko-Mauro K, Rubenstein R, Kollen W, Reenstra W, Altschuler S, Egan M, Mulberg A. CFTR is functionally active in GnRH-expressing GT1–7 hypothalamic neurons. American Journal Of Physiology 1999, 277: c563-c571. PMID: 10484343, DOI: 10.1152/ajpcell.1999.277.3.c563.Peer-Reviewed Original ResearchConceptsGT1-7 hypothalamic neuronsHypothalamic neuronsHypothalamic neuronal cell lineGonadotropin-releasing hormoneGT1-7 cellsNeuronal cell linePreincubation of cellsGnRH secretionGT1-7Cystic fibrosisCFTR geneWestern blottingCystic fibrosis transmembrane conductance regulator (CFTR) geneCell linesGnRHDiverse manifestationsHuman brainNeuronsCAMP analogTransmembrane conductance regulator geneSexual differentiationExon 10CFTR activity
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply