2025
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Chapman N, Navas P, Dorschner M, Mehaffey M, Wigg K, Price K, Naumova O, Kerr E, Guger S, Lovett M, Grigorenko E, Berninger V, Barr C, Wijsman E, Raskind W. Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. PLOS ONE 2025, 20: e0324006. PMID: 40424442, PMCID: PMC12112411, DOI: 10.1371/journal.pone.0324006.Peer-Reviewed Original ResearchConceptsEvidence of associationLarge-scale sequencing studiesCis-acting regulatory regionsGenome-wide association studiesAggregating rare variantsRare exonic variantsDetected significant evidenceSingle nucleotide polymorphismsGenomic variationDeleterious variantsAssociated with reduced performanceAssociation studiesLarge-effectRegulatory elementsTranscriptional regulationRegulatory regionsQuantitative phenotypesCandidate genesExonic variantsChromosome 6Sequencing studiesSingle variantsCoding exonsMultiple traitsGenetic basis
2009
Exonic remnants of whole-genome duplication reveal cis-regulatory function of coding exons
Dong X, Navratilova P, Fredman D, Drivenes Ø, Becker T, Lenhard B. Exonic remnants of whole-genome duplication reveal cis-regulatory function of coding exons. Nucleic Acids Research 2009, 38: 1071-1085. PMID: 19969543, PMCID: PMC2831330, DOI: 10.1093/nar/gkp1124.Peer-Reviewed Original ResearchConceptsWhole-genome duplicationGenomic regulatory blocksNon-coding regionsCoding exonsHost genesCis-regulatory functionNon-coding elementsExonic regulatory elementsCis-regulatory inputsProtein coding exonsProtein-codingMammalian exonsEvolutionary separationGenomic approachesRegulatory blocksRegulatory elementsCoding sequenceDevelopmental genesSelection pressureRegulatory informationTarget genesExonGenesSequence spaceTeleost
2005
Novel Munc13-4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis.
Santoro A, Cannella S, Trizzino A, Danesino C, Pende D, De Fusco C, Micalizzi C, Bertolini P, Moretta L, Notarangelo L, Griffiths G, Aricò M. Novel Munc13-4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis. Blood 2005, 106: 2807. DOI: 10.1182/blood.v106.11.2807.2807.Peer-Reviewed Original ResearchFamilial hemophagocytic lymphohistiocytosisPRF1 mutationsHemophagocytic lymphohistiocytosisNatural killerGenetic defectsProximal flanking regionsMunc13-4 geneSequences of primersDetect mutated allelesReduced natural killerIdentification of carriersFlow cytometric toolsExon 31Gene sequencesFlanking regionMunc13-4Sequencing approachGenomic DNACytotoxic lymphocytesAmplification productsHeterozygous mutationsCellular cytotoxicityCoding exonsTherapeutic choiceMutation clusters
1995
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. The Journal Of Clinical Endocrinology & Metabolism 1995, 80: 1611-1621. PMID: 7745008, DOI: 10.1210/jcem.80.5.7745008.Peer-Reviewed Original ResearchConceptsPseudohypoparathyroidism type IbPHP-IbCoding exonsExon GNucleotide sequenceBase changesHuman genomic DNA clonesExon E2Receptor geneTemperature gradient gel electrophoresisGenomic DNA clonesRestriction enzyme mappingReceptor cytoplasmic tailPHP-Ib patientsPTH/PTH-related peptideReverse transcriptase-polymerase chain reactionSplice donor sitePTH/PTHrP receptor geneTranscriptase-polymerase chain reactionGradient gel electrophoresisType IbChain reactionDirect nucleotide sequencingWild-type receptorNorthern blot analysis
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