Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal Of Human Genetics 2020, 65: 911-915. PMID: 32435055, DOI: 10.1038/s10038-020-0776-0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngiomatosisBrain NeoplasmsCardiomegalyChild, PreschoolExome SequencingFibrosisHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLung DiseasesMaleModels, MolecularNeurodegenerative DiseasesPedigreePoint MutationProtein ConformationProtein DomainsSequence AlignmentSequence Homology, Amino AcidSyndromeConceptsWhole-exome sequencingNovel compound heterozygous variantsCompound heterozygous variantsUkrainian patientsClinical featuresNovel variantsNew patientsHealthy humansCompound heterozygous combinationPatientsHeterozygous variantsSyndromeFinnish childrenNHLRC2Sanger sequencingFibrosisDiseaseGnomAD databaseN-terminal thioredoxinCentral regulatorVariantsNeurodegenerationThe Mystery of MIS-C Post-SARS-CoV-2 Infection
Brodsky NN, Ramaswamy A, Lucas CL. The Mystery of MIS-C Post-SARS-CoV-2 Infection. Trends In Microbiology 2020, 28: 956-958. PMID: 33190685, PMCID: PMC7556780, DOI: 10.1016/j.tim.2020.10.004.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSevere acute respiratory syndrome coronavirus 2Acute respiratory syndrome coronavirus 2SARS-CoV-2 infectionRespiratory syndrome coronavirus 2Multisystem inflammatory syndromeCoronavirus disease 2019 (COVID-19) pandemicSyndrome coronavirus 2Life-threatening illnessDisease 2019 pandemicImmune driversInflammatory syndromeCoronavirus 2Enigmatic diseaseImportant new studiesChildrenNew studiesUnique effectsSyndromeIllnessInfectionDisease