2022
Extracting Significant Comorbid Diseases from MeSH Index of PubMed
Anand D, Manoharan S, Iyyappan O, Anand S, Raja K. Extracting Significant Comorbid Diseases from MeSH Index of PubMed. Methods In Molecular Biology 2022, 2496: 283-299. PMID: 35713870, DOI: 10.1007/978-1-0716-2305-3_15.Peer-Reviewed Original Research
2021
Distinct glomerular disease association after vaccination with BNT162b2 and mRNA-1273: a VigiBase analysis
Kronbichler A, Jung S, Kim M, Shin J. Distinct glomerular disease association after vaccination with BNT162b2 and mRNA-1273: a VigiBase analysis. Kidney International 2021, 101: 415-416. PMID: 34822875, PMCID: PMC8606315, DOI: 10.1016/j.kint.2021.11.013.Peer-Reviewed Original ResearchConceptsDisease associationsProgressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. American Journal Of Human Genetics 2021, 108: 722-738. PMID: 33798445, PMCID: PMC8059372, DOI: 10.1016/j.ajhg.2021.03.013.Peer-Reviewed Original ResearchConceptsPME genesProgressive myoclonus epilepsyWhole-exome sequencingPrevious genetic analysisGroup of genesVariety of proteinsPrevious disease associationsUnrelated individualsCopy number changesProtein glycosylationPathway genesEndosomal functionGenetic analysisDisease-causing variantsGenesLikely disease-causing variantsAdditional family membersGenetic heterogeneityHeterogeneous rare diseasesUnsolved casesDisease associationsNovel causeMyoclonus epilepsyHeterozygous variantsHomozygous variant
2019
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications 2019, 10: 1784. PMID: 30992455, PMCID: PMC6467913, DOI: 10.1038/s41467-018-08148-z.Peer-Reviewed Original ResearchConceptsStructural variantsSequencing studiesHigh-throughput sequencing studiesHuman genetic diversityHuman genetic variationGenome sequencing studiesGenetic diversityHuman genomeGenetic variationSequencing technologiesGenome ProjectSV detectionGenomeIndel variantsSV callsetsStructural variationsRecurrent microdeletionsDisease associationsMicroduplication syndromesOptical mappingVariantsSevenfold increaseDiversityCritical regionCallsets
2018
Residential mobility during pregnancy in Urban Gansu, China
Tang Z, Zhang H, Bai H, Chen Y, Zhao N, Zhou M, Cui H, Lerro C, Lin X, Lv L, Zhang C, Zhang H, Xu R, Zhu D, Dang Y, Han X, Xu X, Lin R, Yao T, Su J, Ma B, Liu X, Wang Y, Wang W, Liu S, Luo J, Huang H, Liang J, Jiang M, Qiu W, Bell ML, Qiu J, Liu Q, Zhang Y. Residential mobility during pregnancy in Urban Gansu, China. Health & Place 2018, 53: 258-263. PMID: 30196043, PMCID: PMC6556377, DOI: 10.1016/j.healthplace.2018.08.021.Peer-Reviewed Original ResearchConceptsBirth outcomesMaternal complicationsPregnant womenLow birth weightAdverse birth outcomesEnvironmental exposuresBirth cohort studyMultivariate logistic regressionTime of deliveryCohort studyPreterm birthThird trimesterBirth weightMaternal characteristicsMaternal residencePregnancyLogistic regressionComplicationsExposure misclassificationAsian populationsLower likelihoodBirth defectsDisease associationsOutcomesExposurePartnering for Care of Wilson Disease
Graper M, Schilsky M. Partnering for Care of Wilson Disease. Clinical Gastroenterology 2018, 203-212. DOI: 10.1007/978-3-319-91527-2_12.Peer-Reviewed Original ResearchRisk factors for red blood cell alloimmunization in the Recipient Epidemiology and Donor Evaluation Study (REDS‐III) database
Karafin MS, Westlake M, Hauser RG, Tormey CA, Norris PJ, Roubinian NH, Wu Y, Triulzi DJ, Kleinman S, Hendrickson JE, Study‐III N. Risk factors for red blood cell alloimmunization in the Recipient Epidemiology and Donor Evaluation Study (REDS‐III) database. British Journal Of Haematology 2018, 181: 672-681. PMID: 29675950, PMCID: PMC5991618, DOI: 10.1111/bjh.15182.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAnemia, Sickle CellArthritis, RheumatoidBlood DonorsBlood Group AntigensChildChild, PreschoolDatabases, FactualErythrocyte TransfusionFemaleHumansImmunizationInfantIsoantibodiesLupus Erythematosus, SystemicMaleMiddle AgedMyelodysplastic SyndromesRisk FactorsTransfusion ReactionConceptsRed blood cell alloimmunizationRecipient EpidemiologyRecipients databaseSignificant RBC alloantibodiesNegative antibody screenLargest RBCStandardized registryPositive patientsRBC alloantibodiesAntibody screenICD9/10 codesPatient cohortRisk factorsResponder statusCertain diagnosisBlood typeLarger studyAlloimmunizationRhD statusStudy databaseRespondersPatientsDisease associationsPotential correlatesEpidemiology
2017
Canonical and cross-reactive binding of NK cell inhibitory receptors to HLA-C allotypes is dictated by peptides bound to HLA-C
Sim M, Malaker S, Khan A, Stowell J, Shabanowitz J, Peterson M, Rajagopalan S, Hunt D, Altmann D, Long E, Boyton R. Canonical and cross-reactive binding of NK cell inhibitory receptors to HLA-C allotypes is dictated by peptides bound to HLA-C. The Journal Of Immunology 2017, 198: 222.25-222.25. DOI: 10.4049/jimmunol.198.supp.222.25.Peer-Reviewed Original ResearchKiller cell Ig-like receptorsHLA-C allotypesCross-reactive bindingHuman NK cell activityNK cell inhibitory receptorsNK cell activityNK cell functionInhibitory killer cell Ig-like receptorsNK cell activationDisorders of pregnancyCell inhibitory receptorsIg-like receptorsInhibitory receptorsHLA genotypeKIR2DL1-C2Viral infectionHLACell activationCell activityKIR2DL1Cell functionEndogenous peptidesPotential mechanismsDisease associationsSpecific binding
2013
Guilt by rewiring: gene prioritization through network rewiring in Genome Wide Association Studies
Hou L, Chen M, Zhang CK, Cho J, Zhao H. Guilt by rewiring: gene prioritization through network rewiring in Genome Wide Association Studies. Human Molecular Genetics 2013, 23: 2780-2790. PMID: 24381306, PMCID: PMC3990172, DOI: 10.1093/hmg/ddt668.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesWide association studyDisease-associated genesGWAS signalsNetwork rewiringAssociation studiesFunctional genomic informationGene expression networksCo-expression networkDisease-associated pathwaysExpression networksGene networksGenomic informationAssociation signalsGene prioritizationDisease genesDisease locusSusceptibility lociGenesAssociation principleRewiringDisease associationsLociMillions of candidatesDisease conditions
2008
Complement Receptor 1: Disease associations and therapeutic implications
Khera R, Das N. Complement Receptor 1: Disease associations and therapeutic implications. Molecular Immunology 2008, 46: 761-772. PMID: 19004497, PMCID: PMC7125513, DOI: 10.1016/j.molimm.2008.09.026.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
1995
A “Minimal Essential Mhc” and an “Unrecognized Mhc”: Two Extremes in Selection for Polymorphism
Kaufman J, Völk H, Wallny H. A “Minimal Essential Mhc” and an “Unrecognized Mhc”: Two Extremes in Selection for Polymorphism. Immunological Reviews 1995, 143: 63-88. PMID: 7558083, DOI: 10.1111/j.1600-065x.1995.tb00670.x.Peer-Reviewed Original ResearchConceptsMHC polymorphismMHC genesChicken MHC haplotypesDisease resistance genesMinimal essential MHCMHC haplotypesExamples of selectionMultigene familyMammalian MHCPathogen resistancePeptide motifsDisease resistanceResistance genesVertebrate groupsHaplotypesDisease associationsGenesMammalsMHC moleculesPolymorphismPolymorphic MHCSalamandersPathogensInfectious pathogensChicken
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