2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
Miyake C, Lay E, Soler-Alfonso C, Glinton K, Houck K, Tosur M, Moran N, Stephens S, Scaglia F, Howard T, Kim J, Pham T, Valdes S, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril P, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris S, Ehsan S, Azamian M, Lalani S. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genetics In Medicine 2022, 25: 100352. PMID: 36473599, PMCID: PMC10306319, DOI: 10.1016/j.gim.2022.11.020.Peer-Reviewed Original ResearchConceptsMetabolic crisisNatural historyCardiac crisisDeficiency disordersOngoing natural history studyMedical record reviewNatural history studiesAutosomal recessive diseaseMedian ageMultivitamin supplementationRecord reviewIntermittent ataxiaNeurodevelopmental delayEarly infancyPatientsBaseline assessmentSpeech difficultiesB complexDevelopmental milestonesRecessive diseaseParent interviewsUnrelated familiesAtaxiaHistory studiesProgressive delay
2003
Analysis of part of the chicken Rfp-Y region reveals two novel lectin genes, the first complete genomic sequence of a class I α-chain gene, a truncated class II β-chain gene, and a large CR1 repeat
Rogers S, Shaw I, Ross N, Nair V, Rothwell L, Kaufman J, Kaiser P. Analysis of part of the chicken Rfp-Y region reveals two novel lectin genes, the first complete genomic sequence of a class I α-chain gene, a truncated class II β-chain gene, and a large CR1 repeat. Immunogenetics 2003, 55: 100-108. PMID: 12692693, DOI: 10.1007/s00251-003-0553-1.Peer-Reviewed Original Research
2000
The major and a minor class II β-chain (B-LB ) gene flank the Tapasin gene in the B-F /B-L region of the chicken major histocompatibility complex
Jacob J, Milne S, Beck S, Kaufman J. The major and a minor class II β-chain (B-LB ) gene flank the Tapasin gene in the B-F /B-L region of the chicken major histocompatibility complex. Immunogenetics 2000, 51: 138-147. PMID: 10663576, DOI: 10.1007/s002510050022.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Inbred StrainsAntiportersBase SequenceChickensExonsGene DosageGenes, DominantGenes, MHC Class IIGenetic LinkageHaplotypesHistocompatibility Antigens Class IIHLA-B AntigensImmunoglobulinsIntronsMembrane Transport ProteinsMolecular Sequence DataPhysical Chromosome MappingPolymorphism, GeneticSequence Homology, Nucleic AcidConceptsB-F/B-L regionChicken major histocompatibility complexAdjacent genesB chain genesWell-characterized linesDNA sequencesLines of chickensTapasin geneGenesB12 haplotypeHaplotypesMajor histocompatibility complexB-chainStructural organizationChickenHistocompatibility complexB complexResponse to vaccination
1998
NF-κB AND REL PROTEINS: Evolutionarily Conserved Mediators of Immune Responses
Ghosh S, May M, Kopp E. NF-κB AND REL PROTEINS: Evolutionarily Conserved Mediators of Immune Responses. Annual Review Of Immunology 1998, 16: 225-260. PMID: 9597130, DOI: 10.1146/annurev.immunol.16.1.225.Peer-Reviewed Original ResearchConceptsNF-kappa BNF-kappa B/IGeneration of knockoutTranscription factor NF-kappa BFactor NF-kappa BAnti-apoptotic proteinsConserved mediatorInducible phosphorylationRel proteinsB proteinB familyOrganism's responseCell deathNormal developmentProteinNF-kappaB actB complexRecent findingsAdhesion moleculesNumerous cytokinesKinaseDiscoveryPhosphorylationCytosol
1991
The Polymorphic B-G Antigens of the Chicken MHC – Do the Structure and Tissue Distribution Suggest a Function?
Salomonsen J, Skjødt K, Kaufman J. The Polymorphic B-G Antigens of the Chicken MHC – Do the Structure and Tissue Distribution Suggest a Function? NATO ASI Series 1991, 343-356. DOI: 10.1007/978-3-642-84622-9_29.Peer-Reviewed Original Research
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