2018
Mutations in PERP Cause Dominant and Recessive Keratoderma
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Mutations in PERP Cause Dominant and Recessive Keratoderma. Journal Of Investigative Dermatology 2018, 139: 380-390. PMID: 30321533, PMCID: PMC6586468, DOI: 10.1016/j.jid.2018.08.026.Peer-Reviewed Original ResearchConceptsC-terminal truncationsIntercellular adhesionEpidermal biologyEpidermal differentiation markersEpidermal homeostasisDesmosomal componentsDesmosomal proteinsGenetic determinantsDifferentiation markersEssential roleMutationsUnrelated kindredsDesmosomesProteinPERPOlmsted syndromePalmoplantar keratodermaGenesCrucial componentHeterozygosityBiologyHomeostasisKeratinization disordersKeratodermaHomozygosity
2011
Friedreich's Ataxia (GAA)n•(TTC)n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae
Tang W, Dominska M, Greenwell PW, Harvanek Z, Lobachev KS, Kim HM, Narayanan V, Mirkin SM, Petes TD. Friedreich's Ataxia (GAA)n•(TTC)n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae. PLOS Genetics 2011, 7: e1001270. PMID: 21249181, PMCID: PMC3020933, DOI: 10.1371/journal.pgen.1001270.Peer-Reviewed Original ResearchConceptsDouble-strand breaksMitotic crossoversNon-reciprocal transferExpansions of trinucleotideFriedreich's ataxiaGenome instabilityMeiotic recombinationUnreplicated chromosomesDNA sequencesRecombination eventsCell cycleSaccharomyces cerevisaeYeastMajor classesChromosomesPotent sourceRepeatsHeterozygosityTrinucleotideCerevisaeRecombinationSequence
2006
Inbreeding Linked to Amphibian Survival in the Wild but Not in the Laboratory
Halverson M, Skelly D, Caccone A. Inbreeding Linked to Amphibian Survival in the Wild but Not in the Laboratory. Journal Of Heredity 2006, 97: 499-507. PMID: 16957048, DOI: 10.1093/jhered/esl019.Peer-Reviewed Original ResearchConceptsWood frog larvaeDegree of inbreedingAmphibian survivalMultilocus heterozygosityWood frogsInbreedingFrog larvaeRelatedness estimatorsMeasurements of survivalMicrosatellite analysisWildLarvaeMeasures of growthAffected survivalGrowthHeterozygosityFrogsCaptivitySignificant negative relationshipSurvivalFitnessParentageNegative relationshipDevelopmentA set of highly discriminating microsatellite loci for the Galápagos marine iguana Amblyrhynchus cristatus
STEINFARTZ S, CACCONE A. A set of highly discriminating microsatellite loci for the Galápagos marine iguana Amblyrhynchus cristatus. Molecular Ecology Resources 2006, 6: 927-929. DOI: 10.1111/j.1471-8286.2006.01402.x.Peer-Reviewed Original ResearchDevelopment and characterization of microsatellite markers for the Amazonian blackwing hatchetfish, Carnegiella marthae (Teleostei, Gasteropelecidae)
BEHEREGARAY L, PIGGOTT M, CHAO N, CACCONE A. Development and characterization of microsatellite markers for the Amazonian blackwing hatchetfish, Carnegiella marthae (Teleostei, Gasteropelecidae). Molecular Ecology Resources 2006, 6: 787-788. DOI: 10.1111/j.1471-8286.2006.01344.x.Peer-Reviewed Original Research
2005
Characterization of microsatellite loci for the Amazonian rummy‐nose tetra, Hemigrammus bleheri (Teleostei, Characidae)
BEHEREGARAY L, CHAE J, CHAO N, CACCONE A. Characterization of microsatellite loci for the Amazonian rummy‐nose tetra, Hemigrammus bleheri (Teleostei, Characidae). Molecular Ecology Resources 2005, 5: 536-537. DOI: 10.1111/j.1471-8286.2005.00985.x.Peer-Reviewed Original ResearchRummy-nose tetraHemigrammus bleheriVariable genetic markersMicrosatellite DNA lociNumber of allelesMiddle Rio NegroDNA lociMicrosatellite lociPopulation historyConservation unitsForest streamsGenetic markersSmall fishCentral AmazoniaFishery resourcesLociRiverine peopleFishRio NegroHeterozygositySpeciesAllelesAmazoniaAquariaImportant tool
2004
Microsatellite markers for the cardinal tetra Paracheirodon axelrodi, a commercially important fish from central Amazonia
BEHEREGARAY L, MÖLLER L, SCHWARTZ T, CHAO N, CACCONE A. Microsatellite markers for the cardinal tetra Paracheirodon axelrodi, a commercially important fish from central Amazonia. Molecular Ecology Resources 2004, 4: 330-332. DOI: 10.1111/j.1471-8286.2004.00686.x.Peer-Reviewed Original ResearchCentral AmazoniaCardinal tetra Paracheirodon axelrodiMicrosatellite DNA lociPopular aquarium fishParacheirodon axelrodiNumber of allelesDNA lociPopulation diversificationImportant fishAquarium fishMicrosatellite markersEvolutionary processesFishery resourcesFishCardinal tetraLociRiverine communitiesAmazoniaPowerful toolHeterozygosityMarkersDiversificationConservationAllelesAmazonianA set of microsatellite DNA markers for the one‐lined pencilfish Nannostomus unifasciatus, an Amazonian flooded forest fish
BEHEREGARAY L, SCHWARTZ T, MÖLLER L, CALL D, CHAO N, CACCONE A. A set of microsatellite DNA markers for the one‐lined pencilfish Nannostomus unifasciatus, an Amazonian flooded forest fish. Molecular Ecology Resources 2004, 4: 333-335. DOI: 10.1111/j.1471-8286.2004.00687.x.Peer-Reviewed Original ResearchPopulation genetic structureMicrosatellite DNA markersNumber of allelesFishery resourcesGenetic structureCentral AmazoniaDNA markersMicrosatellite lociPhylogeographical reconstructionConservation unitsForests of AmazoniaSmall fishForestAmazon basinAmazoniaLociFishRiverine communitiesHeterozygosityMarkersAllelesAmazonianAquaria
2002
Temporal and Geographic Genetic Variation in Culex nigripalpus Theobald (Culicidae: Diptera), a Vector of St. Louis Encephalitis Virus, from Florida
Nayar J, Knight J, Munstermann L. Temporal and Geographic Genetic Variation in Culex nigripalpus Theobald (Culicidae: Diptera), a Vector of St. Louis Encephalitis Virus, from Florida. Journal Of Medical Entomology 2002, 39: 854-860. PMID: 12495183, DOI: 10.1603/0022-2585-39.6.854.Peer-Reviewed Original ResearchConceptsGeographic genetic variationGenetic variationGeographic samplesGene flowGenetic distanceObserved heterozygosityColony samplesGene flow estimatesHigh gene flowGenetic variability valuesRogers' genetic distanceField-collected samplesEnzyme lociCulex nigripalpus TheobaldNm valuesField samplesPolymorphic lociAverage Nei'sField populationsHardy-WeinbergBeach populationsPolyacrylamide gel electrophoresisDistinct temporal patternsLociHeterozygosity
2001
Distribution of Phlebotomine Sand Fly Genotypes (Lutzomyia shannoni, Diptera: Psychodidae) Across a Highly Heterogeneous Landscape
Mukhopadhyay J, Ghosh K, Ferro C, Munstermann L. Distribution of Phlebotomine Sand Fly Genotypes (Lutzomyia shannoni, Diptera: Psychodidae) Across a Highly Heterogeneous Landscape. Journal Of Medical Entomology 2001, 38: 260-267. PMID: 11296833, DOI: 10.1603/0022-2585-38.2.260.Peer-Reviewed Original ResearchConceptsGenetic variabilitySubstantial genetic variabilityClose genetic similarityEnzyme lociForest habitatsAllozyme frequenciesMean heterozygosityLutzomyia shannoni DyarGenetic similarityField populationsLaboratory coloniesHeterogeneous landscapesNorthern ArgentinaLociNorth-central ColombiaAmazon River basinSoutheastern United StatesEastern United StatesCentral ColombiaL. shannoniSand fliesHabitatsHeterozygosityFliesDyar
1999
Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene
Mateu E, Calafell F, Bonné-Tamir B, Kidd J, Casals T, Kidd K, Bertranpetit J. Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene. Human Heredity 1999, 49: 15-20. PMID: 9858852, DOI: 10.1159/000022834.Peer-Reviewed Original ResearchConceptsCFTR geneIntron 1Allele frequenciesMolecular varianceGenetic varianceFirst intronDinucleotide CACA repeatsGenesCF mutationsHaplotypic analysisMutationsMajor geographical areasAfrican populationsUnknown mutationsAllele distributionPolymorphismCystic fibrosisIntronsChromosomesRepeatsGeographical regionsLociHeterozygosityPopulation
1998
Genetic Structure of Local Populations of Lutzomyia longipalpis (Diptera: Psychodidae) in Central Colombia
Munstermann L, Morrison A, Ferro C, Pardo R, Torres M. Genetic Structure of Local Populations of Lutzomyia longipalpis (Diptera: Psychodidae) in Central Colombia. Journal Of Medical Entomology 1998, 35: 82-89. PMID: 9542350, DOI: 10.1093/jmedent/35.1.82.Peer-Reviewed Original ResearchConceptsGenetic structureGenetic distanceGene flow estimatesPopulation genetic structureNei's genetic distanceNew World tropicsDiscontinuous geographical distributionMagdalena River ValleyCentral ColombiaGene flowMean heterozygosityWorld tropicsGenetic variationLongipalpis populationsGenetic variabilityIsoenzyme lociPeridomestic populationsGeographical distributionSouthern MexicoMinimal populationLociLocal populationLutzomyia longipalpisAmerican visceral leishmaniasisHeterozygosityShort tandem repeat polymorphism evolution in humans
Calafell F, Shuster A, Speed W, Kidd J, Kidd K. Short tandem repeat polymorphism evolution in humans. European Journal Of Human Genetics 1998, 6: 38-49. PMID: 9781013, DOI: 10.1038/sj.ejhg.5200151.Peer-Reviewed Original ResearchConceptsDinucleotide short tandem repeat polymorphismsStepwise mutation modelSet of populationsPrivate allelesShort tandem repeat polymorphismsGenetic distanceHigh heterozygosityGenetic variationLinkage analysisMutation modelPolymorphism evolutionTandem repeat polymorphismEuropean populationsModern humansHeterozygosityAllelesRepeat polymorphismAfrican sampleReplacement hypothesisEast AsiansDifferentiationHumansPolymorphismPopulationTrees
1997
Patterns of genetic variability in colonized strains of Lutzomyia longipalpis (Diptera: Psychodidae) and its consequences.
Mukhopadhyay J, Rangel E, Ghosh K, Munstermann L. Patterns of genetic variability in colonized strains of Lutzomyia longipalpis (Diptera: Psychodidae) and its consequences. American Journal Of Tropical Medicine And Hygiene 1997, 57: 216-21. PMID: 9288819, DOI: 10.4269/ajtmh.1997.57.216.Peer-Reviewed Original ResearchConceptsLaboratory coloniesField collectionsNew World sandEnzyme lociAverage heterozygosityGenetic qualityGenetic variabilityGenetic shiftColonization processField populationsGenetic differencesLutzomyia longipalpisGeographic strainsDifferent allelesSand fliesBiological inferencesLapinha CavePhlebotomine sand fliesHeterozygosityAllelesInfrequent allelesApparent consequenceColoniesField specimensPolyacrylamide gels
1994
Unexpected Genetic Consequences of Colonization and Inbreeding: Allozyme Tracking in Culicidae (Diptera)
Munstermann L. Unexpected Genetic Consequences of Colonization and Inbreeding: Allozyme Tracking in Culicidae (Diptera). Annals Of The Entomological Society Of America 1994, 87: 157-164. DOI: 10.1093/aesa/87.2.157.Peer-Reviewed Original ResearchMaintenance of heterozygosityEnzyme lociGenetic consequencesLinkage mappingLethal genesBalanced polymorphismSegregating allelesGenetic variabilityColonization processField populationsGeographic originPresence pointsWeinberg equilibriumGenetic profileHeterozygosityGenetic polymorphismsPolymorphismInbreedingCulicidaeAedes mosquitoesGenesLethalLociAllelesColonization
1991
Study of an additional 58 DNA markers in five human populations from four continents.
Bowcock A, Hebert J, Mountain J, Kidd J, Rogers J, Kidd K, Cavalli-Sforza L. Study of an additional 58 DNA markers in five human populations from four continents. Gene Geography 1991, 5: 151-73. PMID: 1841601.Peer-Reviewed Original Research
1983
Genetic Diversity and Differentiation in Northern Populations of the Tree-Hole Mosquito Aedes hendersoni (Diptera: Culicidae)1
Matthews T, Munstermann L. Genetic Diversity and Differentiation in Northern Populations of the Tree-Hole Mosquito Aedes hendersoni (Diptera: Culicidae)1. Annals Of The Entomological Society Of America 1983, 76: 1005-1010. DOI: 10.1093/aesa/76.6.1005.Peer-Reviewed Original ResearchIntraspecific genetic distancesEvidence of introgressionNatural populationsElectrophoretic variationNorthern populationsGenetic distanceGenetic diversityMean heterozygosityVariable speciesInterspecific comparisonsStructural locusA. triseriatusSpeciesAedes hendersoniLociIntrogressionDipteraCockerellHeterozygosityPopulationHendersoniDiversityTriseriatusEnzymeDifferentiation
1980
Distinguishing Geographic Strains of the Aedes atropalpus Group (Diptera: Culicidae) by Analysis of Enzyme Variation
Munstermann L. Distinguishing Geographic Strains of the Aedes atropalpus Group (Diptera: Culicidae) by Analysis of Enzyme Variation. Annals Of The Entomological Society Of America 1980, 73: 699-704. DOI: 10.1093/aesa/73.6.699.Peer-Reviewed Original ResearchBiochemical divergence between cavernicolous and marine Sphaeromidae and the Mediterranean salinity crisis
Sbordoni V, Caccone A, De Matthaeis E, Sbordoni M. Biochemical divergence between cavernicolous and marine Sphaeromidae and the Mediterranean salinity crisis. Cellular And Molecular Life Sciences 1980, 36: 48-50. DOI: 10.1007/bf02003963.Peer-Reviewed Original ResearchImmunogenetic and population genetic analyses of Iberian cattle
Kidd K, Stone W, Crimella C, Carenzi C, Casati M, Rognoni G. Immunogenetic and population genetic analyses of Iberian cattle. Animal Genetics 1980, 11: 21-38. PMID: 7396241, DOI: 10.1111/j.1365-2052.1980.tb01489.x.Peer-Reviewed Original ResearchConceptsIberian breedsPopulation genetic analysesHalf-sib matingGene frequency dataEstimates of inbreedingAverage inbreeding coefficientSpanish cattle breedsGenetic distanceIberian cattleInbreeding coefficientGenetic analysisLidia breedCattle breedsEuropean breedsPortuguese breedsCodominant systemsPolymorphic systemsRelated groupsBreedsInbreedingCattleClose relationshipHeterozygosity
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