2023
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
Ali A, Abdullah, Bilal M, Mis E, Lakhani S, Ahmad W, Ullah I. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Molecular Biology Reports 2023, 50: 9963-9970. PMID: 37897612, DOI: 10.1007/s11033-023-08816-4.Peer-Reviewed Original ResearchConceptsUnique inheritance patternConsanguineous familyPakistani consanguineous familyMKK genesDifferent genesBBS7 geneBardet-Biedl syndromeWhole-exome sequencingRod-cone dystrophyBBS genesGenesCompound heterozygous variantsNovel homozygous variantHeterogeneous congenital disorderInheritance patternRelated phenotypesExome sequencingClinical manifestationsMutational screeningRenal abnormalitiesMutation spectrumCognitive impairmentHeterozygous variantsPakistani populationHomozygous variant
2018
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus
Griffin JN, Sondalle SB, Robson A, Mis EK, Griffin G, Kulkarni SS, Deniz E, Baserga SJ, Khokha MK. RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus. Development 2018, 145: dev166181. PMID: 30337486, PMCID: PMC6215398, DOI: 10.1242/dev.166181.Peer-Reviewed Original ResearchConceptsPre-rRNA processingSmall ribosomal subunitCommon disease-associated mutationDisease-associated mutationsRpsA mRNARibosome biogenesisRibosome productionRibosome functionRibosomal subunitCandidate genesHuman mRNAsProtein componentsImpairs expressionSpleen developmentMolecular patterningRPSASpleen anlageMutationsXenopusGenesFirst animal modelUniversal requirementMRNA
2014
Uncovering Buffered Pleiotropy: A Genome-Scale Screen for mel-28 Genetic Interactors in Caenorhabditis elegans
Fernandez A, Mis E, Lai A, Mauro M, Quental A, Bock C, Piano F. Uncovering Buffered Pleiotropy: A Genome-Scale Screen for mel-28 Genetic Interactors in Caenorhabditis elegans. G3: Genes, Genomes, Genetics 2014, 4: 185-196. PMID: 24281427, PMCID: PMC3887534, DOI: 10.1534/g3.113.008532.Peer-Reviewed Original ResearchConceptsMEL-28Caenorhabditis elegansLethal genesGenetic interaction screensGenome-scale screeningWild-type wormsNuclear envelope functionsCell-matrix attachmentWild-type larvaeDynactin functionGenetic interactorsGenome-scaleVesicle transportConserved proteinsChromosome segregationGene networksIdentified genesCellular processesPostembryonic rolesInteraction screenNuclear poresPleiotropic functionsGenesEarly embryosLarval development
2010
The Landscape of C. elegans 3′UTRs
Mangone M, Manoharan A, Thierry-Mieg D, Thierry-Mieg J, Han T, Mackowiak S, Mis E, Zegar C, Gutwein M, Khivansara V, Attie O, Chen K, Salehi-Ashtiani K, Vidal M, Harkins T, Bouffard P, Suzuki Y, Sugano S, Kohara Y, Rajewsky N, Piano F, Gunsalus K, Kim J. The Landscape of C. elegans 3′UTRs. Science 2010, 329: 432-435. PMID: 20522740, PMCID: PMC3142571, DOI: 10.1126/science.1191244.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAnimalsBinding SitesCaenorhabditis elegansComputational BiologyConserved SequenceDisorders of Sex DevelopmentGene Expression Regulation, DevelopmentalGene LibraryGenes, HelminthHelminth ProteinsHistonesMaleMicroRNAsOperonPoly APolyadenylationRNA, HelminthRNA, MessengerTrans-SplicingConceptsMetazoan messenger RNAsPolyadenylation signalComplementary DNAProtein-coding genesAmplification of complementary DNAMicroRNA target sitesVariant polyadenylation signalHistone genesGenome-widePolyadenylation sitesAlternative isoformsTrans-splicingGene modelsRNA-seqRegulatory elementsCaenorhabditis elegansLong 3'UTRUntranslated regionIsoform specificityPolyadenylationGenesMessenger RNATarget siteIsoformsAnimal age