2014
A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymes
1995
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Baldwin C, Weiss S, Farrer L, De Stefano A, Adair R, Franklyn B, Kidd K, Korostishevsky M, Bonné-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human Molecular Genetics 1995, 4: 1637-1642. PMID: 8541853, DOI: 10.1093/hmg/4.9.1637.Peer-Reviewed Original ResearchConceptsHuman chromosome 7q31Genetic linkage analysisNon-syndromic deafnessChromosomal locationGene locationNon-syndromic formsRecessive non-syndromic deafnessLinkage analysisChromosome 7q31Nonallelic mutationsGenetic isolateLarge familyLOD scoreGenetic heterogeneityGenetic causeRecessive deafnessGenesRecognizable phenotypeFirst evidenceDruze familyFamilyAffected individualsSpecific patternsMutationsPhenotype