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.

• Imprinted Genes
• Regulation
• Cancer
• Developmental Disorders
• Fetal Origins of Disease
• Epigenetics
• Evolution

• Bisphenol a exposure disrupts genomic imprinting in the mouse
  Susiarjo M, Sasson I, Mesaros C, Bartolomei MS
  PLoS Genet 9:e1003401 (2013)
• 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)
• CTCF and Cohesin: Linking Gene Regulatory Elements with Their Targets
  Merkenschlager M, Odom DT
  Cell 152:1285-97 (2013)
• Homosexuality as a consequence of epigenetically canalized sexual development
  Rice WR, Friberg U, Gavrilets S
  Q Rev Biol 87:343-68 (2012)
• Review: Understanding transgenerational epigenetic inheritance via the gametes in mammals
  Daxinger L, Whitelaw E
  Nat Rev Genet 13:153-62 (2012)
• A Model for Genomic Imprinting in the Social Brian: Juveniles
  Ubeda F, Gardner A
  Evolution (Apr 2010)
• 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)
• 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)
• 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)
• Randy L Jirtle, PhD: epigenetics a window on gene dysregulation, disease Interview by Bridget M Kuehn
  Kuehn BM
  JAMA 299:1249-250 (2008)
  Fulltext (PDF)
• 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)
  Fulltext (PDF)Supplement (PDF)→ Feature Article and Press Reports
• Review: DNA methylation: The nuts and bolts of repression
  Miranda TB, Jones PA
  J Cell Physiol 213:384-90 (2007)
• Review: An epigenetic perspective on the free radical theory of development
  Hitchler MJ, Domann FE
  Free Radic Biol Med 43:1023-36 (2007)
• 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)
• Review: Epigenetic Epidemiology of the Developmental Origins Hypothesis
  Waterland RA, Michels KB
  Annu Rev Nutr 27:363-388 (2007)
• 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)
• 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)
• 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)
  Fulltext (PDF)
• 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)
  Fulltext (PDF)
• 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)
• Review: Molecular epigenetics of Angelman syndrome
  Lalande M, Calciano MA
  Cell Mol Life Sci 64:947-60 (2007)
• 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)
• Review: Imprinted and More Equal
  Jirtle RL, Weidman JR [RL Jirtle]
  Am Sci 95:143-149 (2007)
  Fulltext (PDF)→ Feature Article and Press Reports
• Review: Environmental epigenomics and disease susceptibility
  Jirtle RL, Skinner MK
  Nat Rev Genet 8:253-62 (2007)
  Fulltext (PDF)
• 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)
• 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)
• Review: DNA is not Destiny
  Ethan Watters
  Discover 27:32-7 (2006)
  Fulltext (PDF)
• 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)
• 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)
• Schizophrenia, cancer and imprinting: early nutritional influences
  Abel KM, Allin MP, Jirtle RL
  Br J Psychiatry 188:394 (2006)
  Fulltext (PDF)
• Genome-wide prediction of imprinted murine genes
  Luedi PP, Hartemink AJ, Jirtle RL [RL Jirtle]
  Genome Res 15:875-84 (2005)
  Fulltext (PDF)Supplement (PDF)→ Feature Article and Press Reports
• 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)
• 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)
• 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)
  Fulltext (PDF)
• Review: The developmental origins of adult disease
  Barker DJ
  J Am Coll Nutr 23:588S-595S (2004)
• 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)
• 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)
• 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)
• Epigenetics and assisted reproductive technology: a call for investigation
  Niemitz EL, Feinberg AP [AP Feinberg]
  Am J Hum Genet 74:599-609 (2004)
  → Feature Article and Press Reports
• The molecular biology of Wilms tumour
  Brown KW, Malik KT [KW Brown] [KT Malik]
  Expert Rev Mol Med 2001:1-16 (2001)
  Fulltext (PDF)
• 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)
• 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)
  Fulltext (PDF)
• Transposable elements: targets for early nutritional effects on epigenetic gene regulation
  Waterland RA, Jirtle RL [RL Jirtle]
  Mol Cell Biol 23:5293-300 (2003)
  Fulltext (PDF)→ Feature Article and Press Reports
• 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)
• Review: Imprinting evolution and the price of silence
  Murphy SK, Jirtle RL [RL Jirtle]
  Bioessays 25:577-88 (2003)
  Fulltext (PDF)→ Feature Article and Press Reports
• 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)
  Fulltext (PDF)
• 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)
• 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)
• 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)
• 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)
  Fulltext (PDF)→ Feature Article and Press Reports
• 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)
  Fulltext (PDF)→ Feature Article and Press Reports
• 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)
• 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)
  Fulltext (PDF)
• Review: Genomic imprinting: parental influence on the genome
  Reik W, Walter J [W Reik] [J Walter]
  Nat Rev Genet 2:21-32 (2001)
• 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)
• 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)
• 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)
  Fulltext (PDF)→ Feature Article and Press Reports
• Review: Imprinted genes, cognition and behaviour
  Isles AR, Wilkinson LS [LS Wilkinson]
  Trends Cogn Sci 4:309-318 (2000)
• Review: Genomic imprinting Silence across the border
  Reik W, Murrell A [W Reik]
  Nature 405:408-9 (2000)
• 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)
• 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)
• 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)
• 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)
• Review: Genomic imprinting: implications for human disease
  Falls JG, Pulford DJ, Wylie AA, Jirtle RL [RL Jirtle]
  Am J Pathol 154:635-47 (1999)
  Fulltext (PDF)
• 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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