2018
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features
Tan Q, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Network U, Shashi V, Pena L, Alejandro M, Azamian M, Bacino C, Balasubramanyam A, Bostwick B, Burrage L, Chen S, Clark G, Craigen W, Dhar S, Emrick L, Goldman A, Hanchard N, Jamal F, Karaviti L, Lalani S, Lee B, Lewis R, Marom R, Moretti P, Murdock D, Nicholas S, Orange J, Orengo J, Posey J, Potocki L, Rosenfeld J, Samson S, Scott D, Tran A, Vogel T, Bellen H, Wangler M, Yamamoto S, Eng C, Muzny D, Ward P, Yang Y, Goldstein D, Stong N, Cope H, Jiang Y, McConkie-Rosell A, Pena L, Schoch K, Shashi V, Spillmann R, Sullivan J, Tan Q, Walley N, Aaron A, Beggs A, Berry G, Briere L, Cooper C, Donnell-Fink L, Fieg E, High F, Korrick S, Krier J, Lincoln S, Loscalzo J, Maas R, MacRae C, Pallais J, Rodan L, Silverman E, Stoler J, Sweetser D, Walker M, Walsh C, Esteves C, Glanton E, Holm I, Kohane I, McCray A, Might M, LeBlanc K, Bick D, Birch C, Boone B, Brown D, Dorset D, Jones A, Lazar J, Levy S, May T, Newberry J, Worthey E, Batzli G, Colley H, Dayal J, Eckstein D, Gould S, Howerton E, Krasnewich D, Mamounas L, Manolio T, Mulvihill J, Urv T, Wise A, Brush M, Gourdine J, Haendel M, Koeller D, Kyle J, Metz T, Waters K, Webb-Robertson B, Ashley E, Bernstein J, Bonner D, Coakley T, Davidson J, Dries A, Enns G, Fernandez L, Fisher P, Friedman N, Hom J, Huang Y, Kohler J, Majcherska M, Marwaha S, McCormack C, Merker J, Reuter C, Sampson J, Smith K, Waggott D, Wheeler M, Zastrow D, Zhao C, Allard P, Barseghyan H, Butte M, Dell'Angelica E, Dipple K, Dorrani N, Douine E, Eskin A, Fogel B, Lee H, Loo S, Martin M, Martínez-Agosto J, Nelson S, Palmer C, Papp J, Parker N, Signer R, Sinsheimer J, Vilain E, Wan J, Yoon A, Zheng A, Behnam B, Burke E, D'Souza P, Davids M, Draper D, Estwick T, Ferreira C, Godfrey R, Groden C, Johnston J, Lau C, Macnamara E, Maduro V, Markello T, Morimoto M, Murphy J, Nehrebecky M, Novacic D, Pusey B, Sharma P, CamiloToro, Wahl C, Yu G, Gropman A, Baker E, Adams D, Gahl W, Malicdan M, Tifft C, Wolfe L, Yang J, Postlethwait J, Westerfield M, Bican A, Brokamp E, Duncan L, Hamid R, Kozuira M, Newman J, Phillips J, Rives L, Robertson A, Shakachite L, Cogan J. Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features. Molecular Case Studies 2018, 4: a003046. PMID: 29970384, PMCID: PMC6169826, DOI: 10.1101/mcs.a003046.Peer-Reviewed Original ResearchConceptsShwachman-Diamond syndromeBone marrow abnormalitiesShwachman-DiamondPediatric patientsClinical featuresPancreatic insufficiencyDe novo variantsLike syndromeMarrow abnormalitiesMetaphyseal abnormalitiesPathogenic variantsBiallelic variantsMetaphyseal dysplasiaWhole-exome sequencing dataNovo variantsRecent evidenceEquivocal evidenceCausative genesPatientsPhenotypic featuresSyndromeAbnormalitiesPhenotypeFurther evidenceInitial indication5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder
Cheng Y, Li Z, Manupipatpong S, Lin L, Li X, Xu T, Jiang YH, Shu Q, Wu H, Jin P. 5-Hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder. Human Molecular Genetics 2018, 27: 2955-2964. PMID: 29790956, PMCID: PMC6097011, DOI: 10.1093/hmg/ddy193.Peer-Reviewed Original ResearchConceptsEssential epigenetic markGenome-wide distributionCell-cell communicationEpigenetic marksDisease association analysisPsychiatric genesGenomic DNAAssociation analysisDhMRsPathogenesis of ASDHuman postmortem brainGenesHeterogeneous phenotypesPostmortem cerebellumEarly development stagesCI functionDevelopment stagesUnderlying mechanismPostmortem brainsClear underlying mechanismDNAPhenotypeSignificant fractionGroup of syndromesLarge group
2004
EPIGENETICS AND HUMAN DISEASE
Jiang YH, Bressler J, Beaudet AL. EPIGENETICS AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2004, 5: 479-510. PMID: 15485357, DOI: 10.1146/annurev.genom.5.061903.180014.Peer-Reviewed Original ResearchConceptsHuman diseasesComplex disease traitsRole of epigeneticsHeritable changesChromatin structureGenomic imprintingDNA sequencesEpigenetic phenotypesDisease traitsGene expressionImprinting defectsGenetic scansBeckwith-Wiedemann syndromeGenesDisease phenotypeUniparental disomyDe novoEpigeneticsPhenotypeGenetic disordersExpressionChromatinEpimutationsTraitsMutations
2002
A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution
Beaudet AL, Jiang YH. A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution. American Journal Of Human Genetics 2002, 70: 1389-1397. PMID: 11992247, PMCID: PMC379123, DOI: 10.1086/340969.Peer-Reviewed Original ResearchConceptsGenomic imprintingRheostat modelGene expressionSelective advantageNon-Mendelian inheritanceDosage-sensitive lociMajority of variantsEpigenetic variantsEvolutionary advantageForm of evolutionSilent alleleImprintingPhenotypeIntegrated mechanismEnhanced adaptabilityExpressionDeleterious effectsEvolutionMammalsHypervariabilityWide continuumGenesMendelianLociMechanism
1998
Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation
Jiang Y, Armstrong D, Albrecht U, Atkins C, Noebels J, Eichele G, Sweatt J, Beaudet A. Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation. Neuron 1998, 21: 799-811. PMID: 9808466, DOI: 10.1016/s0896-6273(00)80596-6.Peer-Reviewed Original ResearchConceptsLong-term potentiationMaternal deficiencyAngelman syndromeNormal baseline synaptic transmissionBaseline synaptic transmissionE6-AP ubiquitinMotor dysfunctionSynaptic transmissionPhenotype of miceMice causesPotential biochemical basisPostmitotic neuronsLearning deficitsMiceDegradation of p53E6 proteinPotentiationP53Cytoplasmic p53UBE3ACytoplasmic abundanceDeficitsDeficiencyPhenotypeBiochemical basis