Imprinting Articles : Developmental Disorders
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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Paternal Genome Elimination in Liposcelis Booklice (Insecta: Psocodea)
Hodson CN, Hamilton PT, Dilworth D, Nelson CJ, Curtis CI, Perlman SJ
Genetics (Mar 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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Epigenomic engineering for Down syndrome
Mentis AF
Neurosci Biobehav Rev 71:323-327 (2016)
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Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant
Ginart P, Kalish JM, Jiang CL, Yu AC, Bartolomei MS, Raj A
Genes Dev 30:567-78 (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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Chromatin mechanisms in the developmental control of imprinted gene expression
Sanli I, Feil R
Int J Biochem Cell Biol (Apr 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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Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse
Babak T, DeVeale B, Tsang EK, Zhou Y, Li X, Smith KS, Kukurba KR, Zhang R, Li JB, van der Kooy D, Montgomery SB, Fraser HB
Nat Genet (Apr 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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Genetic Variation in Imprinted Genes is Associated with Risk of Late-Onset Alzheimer's Disease
Chaudhry M, Wang X, Bamne MN, Hasnain S, Demirci FY, Lopez OL, Kamboh MI
J Alzheimers Dis (Nov 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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Modulation of imprinted gene expression following superovulation
Fortier AL, McGraw S, Lopes FL, Niles KM, Landry M, Trasler JM
Mol Cell Endocrinol (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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Review: Genomic imprinting: sensing the environment and driving the fetal growth
Lambertini L
Curr Opin Pediatr (Feb 2014)
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Review: The H19 long noncoding RNA gives rise to microRNAs miR-675-3p and miR-675-5p to promote skeletal muscle differentiation and regeneration
Dey BK, Pfeifer K, Dutta A
Genes Dev (Feb 2014)
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Review: Methylation and worker reproduction in the bumble-bee (Bombus terrestris)
Amarasinghe HE, Clayton CI, Mallon EB
Proc Biol Sci 281:20132502 (2014)
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Review: Epigenetic regulation of genomic imprinting from germ line to preimplantation
Macdonald WA, Mann MR
Mol Reprod Dev 81:126-40 (2014)
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Review: Brain-expressed imprinted genes and adult behaviour: the example of Nesp and Grb10
Dent CL, Isles AR
Mamm Genome 25:87-93 (2014)
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Review: In vitro culture increases the frequency of stochastic epigenetic errors at imprinted genes in placental tissues from mouse concepti produced through assisted reproductive technologies
de Waal E, Mak W, Calhoun S, Stein P, Ord T, Krapp C, Coutifaris C, Schultz RM, Bartolomei MS
Biol Reprod 90:22 (2014)
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Review: Genomic imprinting in mammals
Barlow DP, Bartolomei MS
Cold Spring Harb Perspect Biol 6: (2014)
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Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications
Girardot M, Feil R, Lleres D
Epigenomics 5:715-28 (2013)
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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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CTR9/PAF1c regulates molecular lineage identity, histone H3K36 trimethylation and genomic imprinting during preimplantation development
Zhang K, Haversat JM, Mager J
Dev Biol (Sep 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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Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M
Epigenetics 8: (2013)
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Genomic imprinting is variably lost during reprogramming of mouse iPS cells
Takikawa S, Ray C, Wang X, Shamis Y, Wu TY, Li X
Stem Cell Res 11:861-73 (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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Review: Homosexuality as a consequence of epigenetically canalized sexual development
Rice WR, Friberg U, Gavrilets S
Q Rev Biol 87:343-68 (2012)
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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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Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse
McGowan PO, Sasaki A, D'Alessio AC, Dymov S, Labonte B, Szyf M, Turecki G, Meaney MJ
Nat Neurosci 12:342-8 (2009)
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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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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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Review: DNA methylation: The nuts and bolts of repression
Miranda TB, Jones PA
J Cell Physiol 213:384-90 (2007)
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Review: An epigenetic perspective on the free radical theory of development
Hitchler MJ, Domann FE
Free Radic Biol Med 43:1023-36 (2007)
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Dynamics of DNA-demethylation in early mouse and rat embryos developed in vivo and in vitro
Zaitseva I, Zaitsev S, Alenina N, Bader M, Krivokharchenko A
Mol Reprod Dev 74:1255-61 (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: The silence of genes Is genomic imprinting the software of evolution or just a battleground for gender conflict?
Hunter P
EMBO Rep 8:441-3 (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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Retrotransposon Silencing by DNA Methylation Can Drive Mammalian Genomic Imprinting
Suzuki S, Ono R, Narita T, Pask AJ, Shaw G, Wang C, Kohda T, Alsop AE, Marshall Graves JA, Kohara Y, Ishino F, Renfree MB, Kaneko-Ishino T
PLoS Genet 3:e55 (2007)
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Review: Molecular epigenetics of Angelman syndrome
Lalande M, Calciano MA
Cell Mol Life Sci 64:947-60 (2007)
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Genomic imprinting mediates sexual experience-dependent olfactory learning in male mice
Swaney WT, Curley JP, Champagne FA, Keverne EB
Proc Natl Acad Sci U S A (Mar 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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Igf-2r expression regulated by epigenetic modification and the locus of gene imprinting disrupted in cloned cattle
Long JE, Cai X
Gene 388:125-34 (2007)
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Review: DNA is not Destiny
Ethan Watters
Discover 27:32-7 (2006)
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Review: Endocrine disruptors and reproductive health: the case of bisphenol-A
Maffini MV, Rubin BS, Sonnenschein C, Soto AM
Mol Cell Endocrinol 254-255:179-86 (2006)
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Review: Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism
Badcock C, Crespi B [B Crespi]
J Evol Biol 19:1007-32 (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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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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Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice
Davies W, Isles A, Smith R, Karunadasa D, Burrmann D, Humby T, Ojarikre O, Biggin C, Skuse D, Burgoyne P, Wilkinson L [L Wilkinson]
Nat Genet 37:625-9 (2005)
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Identification of a cluster of X-linked imprinted genes in mice
Raefski AS, O'Neill MJ [MJ O'Neill]
Nat Genet 37:620-4 (2005)
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Abnormal postnatal maintenance of elevated DLK1 transcript levels in callipyge sheep
Murphy SK, Freking BA, Smith TP, Leymaster K, Nolan CM, Wylie AA, Evans HK, Jirtle RL
Mamm Genome 16:171-83 (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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Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies
Li J, Bench AJ, Vassiliou GS, Fourouclas N, Ferguson-Smith AC, Green AR [J Li]
Proc Natl Acad Sci U S A 101:7341-6 (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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Genomic imprinting at the WT1 gene involves a novel coding transcript (AWT1) that shows deregulation in Wilms' tumours
Dallosso AR, Hancock AL, Brown KW, Williams AC, Jackson S, Malik K [K Malik]
Hum Mol Genet 13:405-15 (2004)
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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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Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay
Dietz LG, Wylie AA, Rauen KA, Murphy SK, Jirtle RL, Cotter PD
J Med Genet 40:e46 (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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Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals
Freking BA, Murphy SK, Wylie AA, Rhodes SJ, Keele JW, Leymaster KA, Jirtle RL, Smith TP [BA Freking] [RL Jirtle]
Genome Res 12:1496-506 (2002)
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Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary
Killian JK, Nolan CM, Wylie AA, Li T, Vu TH, Hoffman AR, Jirtle RL [RL Jirtle]
Hum Mol Genet 10:1721-8 (2001)
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Review: CTCF is a uniquely versatile transcription regulator linked to epigenetics and disease
Ohlsson R, Renkawitz R, Lobanenkov V [R Ohlsson]
Trends Genet 17:520-7 (2001)
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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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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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Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes
Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M [M Oshimura]
Hum Mol Genet 10:383-94 (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: Genomic imprinting Silence across the border
Reik W, Murrell A [W Reik]
Nature 405:408-9 (2000)
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The disparate maternal aunt-uncle ratio in male transsexuals: an explanation invoking genomic imprinting
Green R, Keverne EB [R Green]
J Theor Biol 202:55-63 (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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An imprinted, mammalian bicistronic transcript encodes two independent proteins
Gray TA, Saitoh S, Nicholls RD [RD Nicholls]
Proc Natl Acad Sci U S A 96:5616-21 (1999)
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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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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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A bipartite boundary element restricts imprinting to mature neurons
Hsiao JS, Germain ND, Wilderman A, Stoddard C, Wojenski LA, Villafano GJ, Core L, Cotney J, Chamberlain SJ
Proc Natl Acad Sci U S A (Jan 2019)
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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)
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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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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 science of hope: an interview with Randy Jirtle
Jirtle RL
Epigenomics 14:299-302 (2022)
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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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Review: There is another: H3K27me3-mediated genomic imprinting
Raas MWD, Zijlmans DW, Vermeulen M, Marks H
Trends Genet 38:82-96 (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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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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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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Review: Paediatrician's guide to epigenetics
Byrne L, Drake AJ
Arch Dis Child (Jan 2019)
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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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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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A new era for epigenetic epidemiology
Gunasekara CJ, Waterland RA
Epigenomics 11:1647-1649 (2019)
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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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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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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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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)