Imprinting Articles : Fetal Origins of Disease
Below are selected articles on genomic imprinting organized by subject. Select a subject by clicking its tab. Hover over each article's title to view its abstract, and click the title to view its full PubMed record. Corresponding authors follow the author list, and fulltext PDFs are available for some articles and reviews.
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(Jan )
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Review: Human imprinting disorders: Principles, practice, problems and progress
Mackay DJG, Temple IK
Eur J Med Genet 60:618-626 (2017)
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DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients
Marques PI, Fernandes S, Carvalho F, Barros A, Sousa M, Marques CJ
Andrology (Mar 2017)
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Diverse Non-genetic, Allele-Specific Expression Effects Shape Genetic Architecture at the Cellular Level in the Mammalian Brain
Huang WC, Ferris E, Cheng T, Horndli CS, Gleason K, Tamminga C, Wagner JD, Boucher KM, Christian JL, Gregg C
Neuron 93:1094-1109.e7 (2017)
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Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
Santoni FA, Stamoulis G, Garieri M, Falconnet E, Ribaux P, Borel C, Antonarakis SE
Am J Hum Genet 100:444-453 (2017)
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Monoallelic Gene Expression in Mammals
Chess A
Annu Rev Genet 50:317-327 (2016)
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Diet-Microbiota Interactions Mediate Global Epigenetic Programming in Multiple Host Tissues
Krautkramer KA, Kreznar JH, Romano KA, Vivas EI, Barrett-Wilt GA, Rabaglia ME, Keller MP, Attie AD, Rey FE, Denu JM
Mol Cell 64:982-992 (2016)
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Expression of imprinted genes in placenta is associated with infant neurobehavioral development
Green BB, Kappil M, Lambertini L, Armstrong DA, Guerin DJ, Sharp AJ, Lester BM, Chen J, Marsit CJ
Epigenetics (Jul 2015)
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FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
Mariani J, Coppola G, Zhang P, Abyzov A, Provini L, Tomasini L, Amenduni M, Szekely A, Palejev D, Wilson M, Gerstein M, Grigorenko EL, Chawarska K, Pelphrey KA, Howe JR, Vaccarino FM
Cell 162:375-90 (2015)
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Quantitative and functional interrogation of parent-of-origin allelic expression biases in the brain
Perez JD, Rubinstein ND, Fernandez DE, Santoro SW, Needleman LA, Ho-Shing O, Choi JJ, Zirlinger M, Chen SK, Liu JS, Dulac C
Elife 4: (2015)
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Living long and ageing well: is epigenomics the missing link between nature and nurture?
Rea IM, Dellet M, Mills KI
Biogerontology (Jul 2015)
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Lead Exposure during Early Human Development and DNA Methylation of Imprinted Gene Regulatory Elements in Adulthood
Li Y, Xie C, Murphy SK, Skaar D, Nye M, Vidal AC, Cecil KM, Dietrich KN, Puga A, Jirtle RL, Hoyo C [Cathrine Hoyo] [Randy Jirtle]
Environ Health Perspect (Jun 2015)
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Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer
Haig D
Philos Trans R Soc Lond B Biol Sci 370: (2015)
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Brain feminization requires active repression of masculinization via DNA methylation
Nugent BM, Wright CL, Shetty AC, Hodes GE, Lenz KM, Mahurkar A, Russo SJ, Devine SE, McCarthy MM
Nat Neurosci 18:690-7 (2015)
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Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction
Chen Z, Hagen DE, Elsik CG, Ji T, Morris CJ, Moon LE, Rivera RM
Proc Natl Acad Sci U S A 112:4618-23 (2015)
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Loss of inherited genomic imprints in mice leads to severe disruption in placental lipid metabolism
Himes KP, Young A, Koppes E, Stolz D, Barak Y, Sadovsky Y, Chaillet JR
Placenta 36:389-96 (2015)
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A systems-level approach to parental genomic imprinting: the imprinted gene network includes extracellular matrix genes and regulates cell cycle exit and differentiation
Al Adhami H, Evano B, Le Digarcher A, Gueydan C, Dubois E, Parrinello H, Dantec C, Bouschet T, Varrault A, Journot L
Genome Res 25:353-67 (2015)
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Essential nutrient supplementation prevents heritable metabolic disease in multigenerational intrauterine growth-restricted rats
Goodspeed D, Seferovic MD, Holland W, Mcknight RA, Summers SA, Branch DW, Lane RH, Aagaard KM
FASEB J 29:807-19 (2015)
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Antagonistic roles in fetal development and adult physiology for the oppositely imprinted Grb10 and Dlk1 genes
Madon-Simon M, Cowley M, Garfield AS, Moorwood K, Bauer SR, Ward A
BMC Biol 12:771 (2014)
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Opposite risk patterns for autism and schizophrenia are associated with normal variation in birth size: phenotypic support for hypothesized diametric gene-dosage effects
Byars SG, Stearns SC, Boomsma JJ
Proc Biol Sci 281:20140604 (2014)
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Human transgenerational responses to early-life experience: potential impact on development, health and biomedical research
Pembrey M, Saffery R, Bygren LO
J Med Genet 51:563-572 (2014)
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Review: Dawning of the epigenetic era in hereditary cancer
Hitchins MP, Lynch HT
Clin Genet (Mar 2014)
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Review: Mammalian viviparity: a complex niche in the evolution of genomic imprinting
Keverne EB
Heredity (Edinb) (Feb 2014)
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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders
Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH
Hum Mol Genet 23:1563-78 (2014)
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Gestational environment programs adult depression-like behavior through methylation of the calcitonin gene-related peptide gene
Jiao J, Opal MD, Dulawa SC
Mol Psychiatry 18:1273-80 (2013)
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Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth
Jacob K, Robinson W, Lefebvre L
Clin Genet 84:326-34 (2013)
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Environmental Epigenomics in Health and Disease
Jirtle RL, Tyson FL
Springer (May 2013)
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Bisphenol a exposure disrupts genomic imprinting in the mouse
Susiarjo M, Sasson I, Mesaros C, Bartolomei MS
PLoS Genet 9:e1003401 (2013)
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Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes
Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D
Hum Mutat 34:595-602 (2013)
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Review: CTCF and cohesin: linking gene regulatory elements with their targets
Merkenschlager M, Odom DT
Cell 152:1285-97 (2013)
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Paternal obesity is associated with IGF2 hypomethylation in newborns: results from a Newborn Epigenetics Study (NEST) cohort
Soubry A, Schildkraut JM, Murtha A, Wang F, Huang Z, Bernal A, Kurtzberg J, Jirtle RL, Murphy SK, Hoyo C
BMC Med 11:29 (2013)
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Adaptive radiation-induced epigenetic alterations mitigated by antioxidants
Bernal AJ, Dolinoy DC, Huang D, Skaar DA, Weinhouse C, Jirtle RL
FASEB J 27:665-71 (2013)
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Review: Understanding transgenerational epigenetic inheritance via the gametes in mammals
Daxinger L, Whitelaw E
Nat Rev Genet 13:153-62 (2012)
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A Model for Genomic Imprinting in the Social Brian: Juveniles
Ubeda F, Gardner A
Evolution (Apr 2010)
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A role for the elongator complex in zygotic paternal genome demethylation
Okada Y, Yamagata K, Hong K, Wakayama T, Zhang Y [Yi Zhang]
Nature 463:554-8 (2010)
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Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies
Gomes MV, Huber J, Ferriani RA, Amaral Neto AM, Ramos ES [MV Gomes]
Mol Hum Reprod 15:471-7 (2009)
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Detection of transgenerational spermatogenic inheritance of adult male acquired CNS gene expression characteristics using a Drosophila systems model
Sharma A, Singh P
PLoS ONE 4:e5763 (2009)
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Interview Epigenomics, imprinting and disease susceptibility
Jirtle RL [R Jirtle]
Pharmacogenomics 9:1791-5 (2008)
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The agouti mouse model: an epigenetic biosensor for nutritional and environmental alterations on the fetal epigenome
Dolinoy DC
Nutr Rev 66 Suppl 1:S7-11 (2008)
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Randy L Jirtle, PhD: epigenetics a window on gene dysregulation, disease Interview by Bridget M Kuehn
Kuehn BM
JAMA 299:1249-250 (2008)
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Review: Environmental epigenomics in human health and disease
Dolinoy DC, Jirtle RL [RL Jirtle]
Environ Mol Mutagen 49:4-8 (2008)
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Computational and Experimental Identification of Novel Human Imprinted Genes
Luedi PE, Dietrich FS , Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ [A.J. Hartemink] [R.L. Jirtle]
Genome Res. 17: (2007)
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Global hypomethylation of peripheral leukocyte DNA in male patients with schizophrenia: A potential link between epigenetics and schizophrenia
Shimabukuro M, Sasaki T, Imamura A, Tsujita T, Fuke C, Umekage T, Tochigi M, Hiramatsu K, Miyazaki T, Oda T, Sugimoto J, Jinno Y, Okazaki Y
J Psychiatr Res 41:1042-6 (2007)
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Review: Epigenetic Epidemiology of the Developmental Origins Hypothesis
Waterland RA, Michels KB
Annu Rev Nutr 27:363-388 (2007)
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Mechanisms underlying the role of glucocorticoids in the early life programming of adult disease
Drake AJ, Tang JI, Nyirenda MJ
Clin Sci (Lond) 113:219-32 (2007)
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Suboptimal in vitro culture conditions: an epigenetic origin of long-term health effects
Fernández-Gonzalez R, Ramirez MA, Bilbao A, De Fonseca FR, Gutiérrez-Adán A
Mol Reprod Dev 74:1149-56 (2007)
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Review: Metastable epialleles, imprinting, and the fetal origins of adult diseases
Dolinoy DC, Das R, Weidman JR, Jirtle RL
Pediatr Res 61:30R-37R (2007)
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Review: Imprinted and More Equal
Jirtle RL, Weidman JR [RL Jirtle]
Am Sci 95:143-149 (2007)
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Review: Environmental epigenomics and disease susceptibility
Jirtle RL, Skinner MK
Nat Rev Genet 8:253-62 (2007)
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Methylation pattern at the KvDMR in a child with Beckwith-Wiedemann syndrome conceived by ICSI
Gomes MV, Gomes CC, Pinto W, Ramos ES
Am J Med Genet A 143:625-9 (2007)
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Bacterial infection promotes DNA hypermethylation
Bobetsis YA, Barros SP, Lin DM, Weidman JR, Dolinoy DC, Jirtle RL, Boggess KA, Beck JD, Offenbacher S
J Dent Res 86:169-74 (2007)
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Review: DNA is not Destiny
Ethan Watters
Discover 27:32-7 (2006)
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Schizophrenia, cancer and imprinting: early nutritional influences
Abel KM, Allin MP, Jirtle RL
Br J Psychiatry 188:394 (2006)
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Maternal genistein alters coat color and protects Avy mouse offspring from obesity by modifying the fetal epigenome
Dolinoy DC, Weidman JR, Waterland RA, Jirtle RL [RL Jirtle]
Environ Health Perspect 114:567-72 (2006)
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Post-weaning diet affects genomic imprinting at the insulin-like growth factor 2 (Igf2) locus
Waterland RA, Lin JR, Smith CA, Jirtle RL
Hum Mol Genet 15:705-16 (2006)
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Genome-wide prediction of imprinted murine genes
Luedi PP, Hartemink AJ, Jirtle RL [RL Jirtle]
Genome Res 15:875-84 (2005)
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Review: The developmental origins of adult disease
Barker DJ
J Am Coll Nutr 23:588S-595S (2004)
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The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding
Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J, Kelsey G [G Kelsey]
Nat Genet 36:818-26 (2004)
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Review: Are children born after assisted reproductive technology at increased risk for adverse health outcomes?
Schieve LA, Rasmussen SA, Buck GM, Schendel DE, Reynolds MA, Wright VC [LA Schieve]
Obstet Gynecol 103:1154-63 (2004)
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Genomic imprinting in disruptive spermatogenesis
Marques CJ, Carvalho F, Sousa M, Barros A [M Sousa]
Lancet 363:1700-2 (2004)
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Epigenetics and assisted reproductive technology: a call for investigation
Niemitz EL, Feinberg AP [AP Feinberg]
Am J Hum Genet 74:599-609 (2004)
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The molecular biology of Wilms tumour
Brown KW, Malik KT [KW Brown] [KT Malik]
Expert Rev Mol Med 2001:1-16 (2001)
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Review: Early nutrition, epigenetic changes at transposons and imprinted genes, and enhanced susceptibility to adult chronic diseases
Waterland RA, Jirtle RL [RL Jirtle]
Nutrition 20:63-8 (2004)
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In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y [C Gicquel]
Am J Hum Genet 72:1338-41 (2003)
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Review: Imprinting evolution and the price of silence
Murphy SK, Jirtle RL [RL Jirtle]
Bioessays 25:577-88 (2003)
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Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
Ørstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K [KH Ørstavik]
Am J Hum Genet 72:218-9 (2003)
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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM [ER Maher]
J Med Genet 40:62-4 (2003)
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Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
DeBaun MR, Niemitz EL, Feinberg AP [AP Feinberg]
Am J Hum Genet 72:156-60 (2003)
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Mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) variants in American and Japanese populations
Killian JK, Oka Y, Jang HS, Fu X, Waterland RA, Sohda T, Sakaguchi S, Jirtle RL [RL Jirtle]
Hum Mutat 18:25-31 (2001)
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Review: Genomic imprinting: parental influence on the genome
Reik W, Walter J [W Reik] [J Walter]
Nat Rev Genet 2:21-32 (2001)
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Review: Evolution of imprinting mechanisms: the battle of the sexes begins in the zygote
Reik W, Walter J [W Reik] [J Walter]
Nat Genet 27:255-6 (2001)
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Maternal methylation imprints on human chromosome 15 are established during or after fertilization
El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Heyd J, Lich C, Brannan CI, Walter J, Horsthemke B [J Walter]
Nat Genet 27:341-4 (2001)
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Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior
Murphy SK, Wylie AA, Jirtle RL [RL Jirtle]
Genomics 71:110-7 (2001)
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Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture
Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I, Sinclair KD [LE Young]
Nat Genet 27:153-4 (2001)
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Review: Imprinted genes, cognition and behaviour
Isles AR, Wilkinson LS [LS Wilkinson]
Trends Cogn Sci 4:309-318 (2000)
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Review: Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism
Skuse DH [DH Skuse]
Pediatr Res 47:9-16 (2000)
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Regulation of maternal behavior and offspring growth by paternally expressed Peg3
Li L, Keverne EB, Aparicio SA, Ishino F, Barton SC, Surani MA [MA Surani]
Science 284:330-3 (1999)
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Review: Genomic imprinting: implications for human disease
Falls JG, Pulford DJ, Wylie AA, Jirtle RL [RL Jirtle]
Am J Pathol 154:635-47 (1999)
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Review: Polymorphisms, genomic imprinting and cancer susceptibility
Pulford DJ, Falls JG, Killian JK, Jirtle RL [RL Jirtle]
Mutat Res 436:59-67 (1999)
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Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA [MA Surani]
Nat Genet 20:163-9 (1998)
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Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting
O'Donoghue S, Green T, Ross JL, Hallmayer J, Lin X, Jo B, Huffman LC, Hong DS, Reiss AL
Biol Psychiatry 87:113-122 (2020)
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A new era for epigenetic epidemiology
Gunasekara CJ, Waterland RA
Epigenomics 11:1647-1649 (2019)
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Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 42:668-677 (2022)
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Review: Toxicoepigenetics and Environmental Health: Challenges and Opportunities
Svoboda LK, Perera BPU, Morgan RK, Polemi KM, Pan J, Dolinoy DC
Chem Res Toxicol 35:1293-1311 (2022)
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Long-term behavioral and cell-type-specific molecular effects of early life stress are mediated by H3K79me2 dynamics in medium spiny neurons
Kronman H, Torres-Berrio A, Sidoli S, Issler O, Godino A, Ramakrishnan A, Mews P, Lardner CK, Parise EM, Walker DM, van der Zee YY, Browne CJ, Boyce BF, Neve R, Garcia BA, Shen L, Pena CJ, Nestler EJ
Nat Neurosci (Mar 2021)
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The science of hope: an interview with Randy Jirtle
Jirtle RL
Epigenomics 14:299-302 (2022)
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Genomic map of candidate human imprint control regions: the imprintome
Jima DD, Skaar DA, Planchart A, Motsinger-Reif A, Cevik SE, Park SS, Cowley M, Wright F, House J, Liu A, Jirtle RL, Hoyo C
Epigenetics (Jul 2022)
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Review: Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A
Nat Rev Genet (Jan 2019)
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DNA methylation of imprint control regions associated with Alzheimer\'s disease in non-Hispanic Blacks and non-Hispanic Whites
Cevik SE, Skaar DA, Jima DD, Liu AJ, Whitson HE, Jirtle RL, Hoyo C, Planchart A
Clin Epigenetics 16:58 (2024)
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A 79-kb paternally inherited 7q322 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
Vincent KM, Stavropoulos DJ, Beaulieu-Bergeron M, Yang C, Jiang M, Zuijdwijk C, Dyment DA, Graham GE
Am J Med Genet A 188:2421-2428 (2022)
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The imprinted Igf2-Igf2r axis is critical for matching placental microvasculature expansion to fetal growth
Sandovici I, Georgopoulou A, Perez-Garcia V, Hufnagel A, Lopez-Tello J, Lam BYH, Schiefer SN, Gaudreau C, Santos F, Hoelle K, Yeo GSH, Burling K, Reiterer M, Fowden AL, Burton GJ, Branco CM, Sferruzzi-Perri AN, Constancia M
Dev Cell (Dec 2021)
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Aberrant expression of imprinted lncRNA MEG8 causes trophoblast dysfunction and abortion
Sheng F, Sun N, Ji Y, Ma Y, Ding H, Zhang Q, Yang F, Li W
J Cell Biochem 120:17378-17390 (2019)
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DNA methylation in AgRP neurons regulates voluntary exercise behavior in mice
MacKay H, Scott CA, Duryea JD, Baker MS, Laritsky E, Elson AE, Garland T, Fiorotto ML, Chen R, Li Y, Coarfa C, Simerly RB, Waterland RA
Nat Commun 10:5364 (2019)
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A genomic atlas of systemic interindividual epigenetic variation in humans
Gunasekara CJ, Scott CA, Laritsky E, Baker MS, MacKay H, Duryea JD, Kessler NJ, Hellenthal G, Wood AC, Hodges KR, Gandhi M, Hair AB, Silver MJ, Moore SE, Prentice AM, Li Y, Chen R, Coarfa C, Waterland RA
Genome Biol 20:105 (2019)
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Review: The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility
Skaar DA, Li Y, Bernal AJ, Hoyo C, Murphy SK, Jirtle RL
ILAR J 53:341-58 (2012)
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Imprinting methylation in SNRPN and MEST1 in adult blood predicts cognitive ability
Lorgen-Ritchie M, Murray AD, Ferguson-Smith AC, Richards M, Horgan GW, Phillips LH, Hoad G, Gall I, Harrison K, McNeill G, Ito M, Haggarty P
PLoS One 14:e0211799 (2019)
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Review: Paediatrician's guide to epigenetics
Byrne L, Drake AJ
Arch Dis Child (Jan 2019)
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Epigenetic Dysregulation of Imprinting and Triple-Negative Breast Cancer
Skaar DA, Dietze EC, Alva-Ornelas JA, Ann D, Schones DE, Hyslop T, Sistrunk C, Zalles C, Ambrose A, Kennedy K, Idassi O, Miranda Carboni G, Gould MN, Jirtle RL, Seewaldt VL
Cancers (Basel) 13: (2021)
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Cannabinoid exposure and altered DNA methylation in rat and human sperm
Murphy SK, Itchon-Ramos N, Visco Z, Huang Z, Grenier C, Schrott R, Acharya K, Boudreau MH, Price TM, Raburn DJ, Corcoran DL, Lucas JE, Mitchell JT, McClernon FJ, Cauley M, Hall BJ, Levin ED, Kollins SH
Epigenetics (Dec 2018)