2024
Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia
Pham C, Koopmann T, Vinocur J, Blom N, Silbiger V, Mittal K, Bootsma M, Palm K, Clur S, Barge‐Schaapveld D, Hamilton R, Lodder E. Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia. Clinical Genetics 2024, 106: 37-46. PMID: 38424693, DOI: 10.1111/cge.14504.Peer-Reviewed Original ResearchCongenital junctional ectopic tachycardiaJunctional ectopic tachycardiaK variantEctopic tachycardiaDilated CardiomyopathySupraventricular tachycardiaReduction of kinase activityAssociated with dilated cardiomyopathyFour-generation familyAtrioventricular (AV) nodeInteracting kinasesMissense variantsKinase functionTroponin I-interacting kinaseKinase activityTNNI3KGenetic penetranceTNNI3Variant carriersMultigenerational familiesGenetic testingTroponin ICardiac arrhythmiasTachycardiaVariants
2018
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Group G, Group T, Disease T, Harris PC. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. American Journal Of Human Genetics 2018, 102: 832-844. PMID: 29706351, PMCID: PMC5986722, DOI: 10.1016/j.ajhg.2018.03.013.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingEnd-stage renal diseaseAutosomal dominant polycystic kidney diseasePhenotypically similar familiesNext-generation sequencingDevelopment of kidney cystsCystic kidneysPolycystic kidney diseaseTargeted Next-Generation SequencingFrameshift changesInterstitial fibrosisKidney diseasePhenotypic hybridsMissense variantsMembrane proteinsTrafficking defectsADTKDEpisodes of goutLate-onset end-stage renal diseaseProgressive interstitial fibrosisAffected membersMultigenerational familiesCo-factorPhenotypic overlapPartial phenotypic overlap
2016
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Truong DT, Shriberg LD, Smith SD, Chapman KL, Scheer-Cohen AR, DeMille MM, Adams AK, Nato AQ, Wijsman EM, Eicher JD, Gruen JR. Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. Human Genetics 2016, 135: 1329-1341. PMID: 27535846, PMCID: PMC5065602, DOI: 10.1007/s00439-016-1717-z.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 13Drosophila ProteinsDyslexiaFemaleGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLanguage DisordersLod ScoreMaleMembrane ProteinsMiddle AgedNuclear ProteinsPedigreeQuantitative Trait LociReadingSpeech DisordersWritingConceptsNonword repetitionSpecific language impairmentCognitive processesLanguage impairmentAuditory processingVerbal developmentMotor planningPerson's abilityRobust endophenotypesMultigenerational familiesLanguage traitsRepetitionDisordersGenome-wide linkage scanSpellingVariance component linkage analysisCausal genetic factorsMultipoint variance component linkage analysisMemoryEndophenotypesSpeechChromosome 13qFuture studiesPresent studyDeficits
2014
The inheritance of Tourette Disorder: A review
Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM. The inheritance of Tourette Disorder: A review. Journal Of Obsessive-Compulsive And Related Disorders 2014, 3: 380-385. PMID: 25506544, PMCID: PMC4260404, DOI: 10.1016/j.jocrd.2014.06.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenetic variationGenome-wide associationGenetic mechanismsBiological pathwaysCausative genesCase-control sampleNumber variantsCommon variantsMultigenerational familiesGenetic factorsRecent studiesFamilyBroad spectrumGenesVariantsFamilial clusteringInheritanceNeuropsychiatric disordersNumerous studiesPathwayVariationGeorges Gilles deCytogenetic abnormalitiesNuclear families
1993
Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16
Gelernter J, Kruger S, Pakstis A, Pacholczyk T, Sparkes R, Kidd K, Amara S. Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16. Genomics 1993, 18: 690-692. PMID: 7905857, DOI: 10.1016/s0888-7543(05)80375-1.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsChromosome MappingChromosomes, Human, Pair 16Deoxyribonucleases, Type II Site-SpecificDNA, ComplementaryGenetic LinkageGenetic MarkersHumansNorepinephrineNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Restriction Fragment LengthRestriction MappingSymportersConceptsNorepinephrine transporter proteinSomatic cell hybrid panelCell hybrid panelHybrid panelHP locusCEPH familiesLarge multigenerational familyTransporter proteinsLinkage analysisChromosome 16Provisional assignmentLinkage dataLociMultigenerational familiesGenetic polymorphismsSite of actionPreliminary assignmentNet1FamilyProteinRFLPSitesPolymorphismPCRLocalization
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