2021
DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.Peer-Reviewed Original ResearchConceptsSporadic moyamoya diseaseMoyamoya diseaseValidation cohortDiscovery cohortIntracranial internal carotid arteryRisk genesBilateral moyamoya diseaseTransfusion-dependent thrombocytopeniaLarger validation cohortNon-East Asian patientsInternal carotid arteryAsian individualsCompound heterozygous variantsNon-East AsiansProgressive vasculopathyTransmitted variantsAsian patientsChildhood strokeMedical recordsCarotid arteryTherapeutic ramificationsMAIN OUTCOMEMouse brain tissuePatientsUS hospitals
2008
The Phylogenetic Informativeness of Nucleotide and Amino Acid Sequences for Reconstructing the Vertebrate Tree
Townsend JP, López-Giráldez F, Friedman R. The Phylogenetic Informativeness of Nucleotide and Amino Acid Sequences for Reconstructing the Vertebrate Tree. Journal Of Molecular Evolution 2008, 67: 437-447. PMID: 18696029, DOI: 10.1007/s00239-008-9142-0.Peer-Reviewed Original ResearchConceptsAmino acid sequencePhylogenetic informativenessAcid sequenceVertebrate treeDNA sequencesMolecular evolutionary patternsEarly placental mammalsGenes c-mycDivergence timesMolecular evolutionPhylogenetic conflictEarly vertebratesEvolutionary patternsPlacental mammalsNucleotide sequenceMuroid rodentsFunctional constraintsGenesC-MycSupport valuesSequenceNucleotidesNumber of charactersHigh informativenessTrees
2007
High Incidence of Nonslippage Mechanisms Generating Variability and Complexity in Eurasian Badger Microsatellites
López-Giráldez F, Marmi J, Domingo-Roura X. High Incidence of Nonslippage Mechanisms Generating Variability and Complexity in Eurasian Badger Microsatellites. Journal Of Heredity 2007, 98: 620-628. PMID: 17728273, DOI: 10.1093/jhered/esm068.Peer-Reviewed Original Research
2005
Phylogenetic inference and comparative evolution of a complex microsatellite and its flanking regions in carnivores
DOMINGO-ROURA X, LÓPEZ-GIRÁLDEZ F, SAEKI M, MARMI J. Phylogenetic inference and comparative evolution of a complex microsatellite and its flanking regions in carnivores. Genetics Research 2005, 85: 223-233. PMID: 16174341, DOI: 10.1017/s0016672305007512.Peer-Reviewed Original ResearchConceptsPhylogenetic inferenceRepetitive motifsFlanking regionsBasal positionNon-coding lociAncestral DNA sequencesShort repetitive motifsHigh mutation rateRepeat additionDNA sequencesCarnivore phylogenyComplex microsatelliteMutational changesCarnivore speciesMutation rateMonotypic familyAilurus fulgensRed pandaMutational hotspotsTree topologyLociRepeat expansionComparative evolutionMeles melesDeletion