2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O’Grady G, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O’Donnell-Luria A, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Consortium G, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine 2017, 9 PMID: 28424332, PMCID: PMC5548421, DOI: 10.1126/scitranslmed.aal5209.Peer-Reviewed Original ResearchConceptsTranscriptome sequencingRNA-seqCurrent diagnostic ratePrior genetic analysisTranscript level changesTriple-helical domainDeep intronic regionsWhole-genome sequencingSplice-altering variantsInterpretation of variantsRepeat motifsGenomic analysisHelical domainMendelian disease diagnosisGenetic analysisMendelian diseasesIntronic regionsSkeletal muscle samplesSequencingRare disease diagnosisIntronic mutationOverall diagnosis rateStandard diagnostic approachRare muscle disorderComplementary diagnostic tool
1985
Characterization of the tissue form of type V collagen from chick bone.
Broek D, Madri J, Eikenberry E, Brodsky B. Characterization of the tissue form of type V collagen from chick bone. Journal Of Biological Chemistry 1985, 260: 555-562. PMID: 3965462, DOI: 10.1016/s0021-9258(18)89768-x.Peer-Reviewed Original ResearchConceptsSodium dodecyl sulfate-polyacrylamide gel electrophoresisDodecyl sulfate-polyacrylamide gel electrophoresisSulfate-polyacrylamide gel electrophoresisGlobular domainType V collagenCyanogen bromide peptide mapsTriple-helical domainGel electrophoresisIsolated alpha chainHelical domainTriple helixForm of alphaBanding patternsChick bonePeptide mapsProtein bandsBacterial collagenase digestionTerminal peptidesRotary shadowingHigh molecular weight formAlpha chainTissue formMolecular weight formsSlower mobilityHelix
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