2024
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest E, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang Y. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports 2024, 43: 114376. PMID: 38900637, PMCID: PMC11328446, DOI: 10.1016/j.celrep.2024.114376.Peer-Reviewed Original ResearchSHANK family genesFamily genesLong-read sequencingCDNA captureTranscript structureDeleterious variantsGenomic studiesAbundant mRNAsTranscriptional dysregulationStochastic transcriptionStudies of neuropsychiatric disordersCausative genesTranscriptional profilesTranscriptional determinantsTranscriptomePostmortem brain tissueAutism spectrum disorderShank3 transcriptsTranscriptionGenesGenomeSHANK3Neuropsychiatric disordersSpectrum disorderAutism model
2010
A question of benefit
Niemitz, E. A question of benefit. Nat Genet 42, 811 (2010). https://doi.org/10.1038/ng1010-811Commentaries, Editorials and Letters
2009
Stem cells by the shore: Meeting summary of the 2008 MDI Stem Cell Symposium.
Epstein JA, Niemitz EL. Stem cells by the shore: Meeting summary of the 2008 MDI Stem Cell Symposium. Epigenetics : Official Journal Of The DNA Methylation Society 2009, 4: 125-6. PMID: 19305143, DOI: 10.4161/epi.4.2.7735.Peer-Reviewed Original Research
2007
The microarray revolution
Niemitz, E. The microarray revolution. Nat Rev Genet 8, S15 (2007). https://doi.org/10.1038/nrg2259Commentaries, Editorials and Letters
2006
The microRevolution
Niemitz, E. The microRevolution. Nat Genet 38, S1 (2006). https://doi.org/10.1038/ng0606s-S1Commentaries, Editorials and LettersMissing links in protein evolution
Niemitz, E. Missing links in protein evolution. Nat Rev Genet 7, 160–161 (2006). https://doi.org/10.1038/nrg1819Commentaries, Editorials and Letters
2005
Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor.
Niemitz EL, Feinberg AP, Brandenburg SA, Grundy PE, DeBaun MR. Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor. American Journal Of Human Genetics 2005, 77: 887-91. PMID: 16252245, PMCID: PMC1271394, DOI: 10.1086/497540.Peer-Reviewed Original Research
2004
Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome.
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. American Journal Of Human Genetics 2004, 75: 844-9. PMID: 15372379, PMCID: PMC1182113, DOI: 10.1086/425343.Peer-Reviewed Original ResearchEpigenetics and assisted reproductive technology: a call for investigation.
Niemitz EL, Feinberg AP. Epigenetics and assisted reproductive technology: a call for investigation. American Journal Of Human Genetics 2004, 74: 599-609. PMID: 14991528, PMCID: PMC1181938, DOI: 10.1086/382897.Peer-Reviewed Original ResearchA treasury of exceptions
Niemitz, E. A treasury of exceptions. Nat Genet 36, 1239 (2004). https://doi.org/10.1038/ng1204-1239Commentaries, Editorials and Letters
2003
Imprinting Disorders
Niemitz EL and Feinberg AP. “Imprinting Disorders” in The Encyclopedia of the Human Genome, Ed Cooper DN. (Nature Publishing Group; Macmillan Publishers, London UK) (2003).ChaptersAssociation of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. American Journal Of Human Genetics 2003, 72: 156-60. PMID: 12439823, PMCID: PMC378620, DOI: 10.1086/346031.Peer-Reviewed Original Research
2002
BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma
Loukinov DI, Pugacheva E, Vatolin S, Pack SD, Moon H, Chernukhin I, Mannan P, Larsson E, Kanduri C, Vostrov AA, Cui H, Niemitz EL, Rasko JE, Docquier FM, Kistler M, Breen JJ, Zhuang Z, Quitschke WW, Renkawitz R, Klenova EM, Feinberg AP, Ohlsson R, Morse HC, Lobanenkov VV. BORIS, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 6806-6811. PMID: 12011441, PMCID: PMC124484, DOI: 10.1073/pnas.092123699.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsCCCTC-Binding FactorCloning, MolecularDNA MethylationDNA-Binding ProteinsGene ExpressionGenetic MarkersGenomic ImprintingHumansMaleMiceMolecular Sequence DataProtein Structure, TertiaryRepressor ProteinsSequence Homology, Amino AcidTestisTranscription FactorsZinc FingersConceptsMethylation marksSame DNA-binding domainMale germ cell developmentMale germ line developmentEpigenetic reprogramming eventsGerm line developmentDNA-binding domainDNA-binding potentialMale germ lineGerm cell developmentX-chromosome inactivationMethylation-sensitive insulatorInsulator proteinsParalogous genesDistinct aminoReprogramming eventsImprinting marksGene regulationChromosome inactivationGerm lineCTCF geneCTCF expressionCarboxy terminusCTCFCandidate proteinsEpigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. American Journal Of Human Genetics 2002, 70: 604-11. PMID: 11813134, PMCID: PMC384940, DOI: 10.1086/338934.Peer-Reviewed Original Research
2001
Loss of imprinting of insulin-like growth factor-II in Wilms' tumor commonly involves altered methylation but not mutations of CTCF or its binding site.
Cui H, Niemitz EL, Ravenel JD, Onyango P, Brandenburg SA, Lobanenkov VV, Feinberg AP. Loss of imprinting of insulin-like growth factor-II in Wilms' tumor commonly involves altered methylation but not mutations of CTCF or its binding site. Cancer Research 2001, 61: 4947-50. PMID: 11431321.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBinding SitesCCCTC-Binding FactorDNA MethylationDNA-Binding ProteinsGene Expression Regulation, NeoplasticGenomic ImprintingHumansInsulin-Like Growth Factor IIMutationRepressor ProteinsReverse Transcriptase Polymerase Chain ReactionRNA, Long NoncodingRNA, MessengerRNA, UntranslatedTranscription FactorsWilms TumorConceptsLoss of imprintingH19 DMRMaternal alleleActive maternal alleleAberrant methylationTranscription factor CTCFInsulin-like growth factor II geneSilent maternal alleleGrowth factor II geneFactor II geneFactor CTCFTranscriptional silencingConsensus sitesCTCF geneNormal imprintingH19 geneCTCFIGF2 imprintingMaternal copyWilms tumorRegion upstreamCommon molecular abnormalityMethylationInsulin-like growth factor IIGenes
2000
Quantitative trait loci modulate neutrophil infiltration in the liver during LPS-induced inflammation.
Matesic LE, Niemitz EL, De Maio A, Reeves RH. Quantitative trait loci modulate neutrophil infiltration in the liver during LPS-induced inflammation. FASEB Journal : Official Publication Of The Federation Of American Societies For Experimental Biology 2000, 14: 2247-54. PMID: 11053246, DOI: 10.1096/fj.99-1051com.Peer-Reviewed Original ResearchFunctional interactions between Drosophila bHLH/PAS, Sox, and POU transcription factors regulate CNS midline expression of the slit gene.
Ma Y, Certel K, Gao Y, Niemitz E, Mosher J, Mukherjee A, Mutsuddi M, Huseinovic N, Crews ST, Johnson WA, Nambu JR. Functional interactions between Drosophila bHLH/PAS, Sox, and POU transcription factors regulate CNS midline expression of the slit gene. The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience 2000, 20: 4596-605. PMID: 10844029, PMCID: PMC6772444.Peer-Reviewed Original Research
1998
Gene regulatory functions of Drosophila fish-hook, a high mobility group domain Sox protein.
Ma Y, Niemitz EL, Nambu PA, Shan X, Sackerson C, Fujioka M, Goto T, Nambu JR. Gene regulatory functions of Drosophila fish-hook, a high mobility group domain Sox protein. Mechanisms Of Development 1998, 73: 169-82. PMID: 9622621, DOI: 10.1016/s0925-4773(98)00050-1.Peer-Reviewed Original Research