2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome
Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa S, Xiong Y, Kong S, Sun Z, Alkuraya FS. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome. Human Molecular Genetics 2014, 23: 3307-3315. PMID: 24488770, PMCID: PMC4047285, DOI: 10.1093/hmg/ddu044.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAmino Acid SequenceAnimalsBardet-Biedl SyndromeConsanguinityEvolution, MolecularExomeFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleModels, MolecularMonomeric GTP-Binding ProteinsPedigreePoint MutationSaudi ArabiaSequence AlignmentZebrafishConceptsBardet-Biedl syndromeBBS genesNovel BBS geneIntraflagellar transport genesAutosomal recessive ciliopathyIFT particlesProtein complexesTransport genesMembrane proteinsFunctional validationGenetic complexityRecessive ciliopathyHuman geneticsGenesIFT27Genetic heterogeneityConsanguineous familyBBS casesBBSomeZebrafishCiliopathiesGeneticsProteinCiliaFirst time
2013
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
Paavola J, Schliffke S, Rossetti S, Kuo I, Yuan S, Sun Z, Harris PC, Torres VE, Ehrlich BE. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. Journal Of Molecular And Cellular Cardiology 2013, 58: 199-208. PMID: 23376035, PMCID: PMC3636149, DOI: 10.1016/j.yjmcc.2013.01.015.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseHeart failureCalcium cyclingCardiac functionProteins polycystin-1Low cardiac outputHuman autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseImpaired calcium cyclingIntracellular calcium cyclingCause of mortalityIntracellular calcium signalingPolycystic kidney diseasePolycystin-2Intracellular calcium channelsAtrioventricular blockCardiac outputKidney diseaseADPKD patientsCardiovascular diseaseRenal epithelial cellsCalcium channelsDilated CardiomyopathyPKD2 mutationsEpithelial cells