The role of genomic imprinting in biology and disease: an expanding view

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Nature reviews genetics

• Publication date

  2014-06-24

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/nrg3766PMID 24958438
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• X-inactivation, imprinting, and long noncoding RNAs in health and disease.

  2013cited by this paper
• A Prader–Willi locus lncRNA cloud modulates diurnal genes and energy expenditure

  2013cited by this paper
• Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

  2013cited by this paper
• Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

  2013cited by this paper
• Magel2 Is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice

  2013cited by this paper
• Elevated blood pressure, heart rate and body temperature in mice lacking the XLαs protein of the Gnas locus is due to increased sympathetic tone

  2013cited by this paper
• Brain-expressed imprinted genes and adult behaviour: the example of Nesp and Grb10

  2013cited by this paper
• Parental imprinting regulates insulin-like growth factor signaling: a Rosetta Stone for understanding the biology of pluripotent stem cells, aging and cancerogenesis

  2013cited by this paper
• Imprinted Igf2r silencing depends on continuous Airn lncRNA expression and is not restricted to a developmental window

  2013cited by this paper
• The role of imprinted genes in humans.

  2013cited by this paper
• Recommendations for the investigation of animal models of Prader–Willi syndrome

  2013cited by this paper
• Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.

  2013cited by this paper
• Maternal imprinting at the H19–Igf2 locus maintains adult haematopoietic stem cell quiescence

  2013cited by this paper
• Identification of Rtl1, a Retrotransposon-Derived Imprinted Gene, as a Novel Driver of Hepatocarcinogenesis

  2013cited by this paper
• Coadaptation and conflict, misconception and muddle, in the evolution of genomic imprinting

  2013cited by this paper
• Gene Dosage Effects at the Imprinted Gnas Cluster

  2013cited by this paper
• Critical Evaluation of Imprinted Gene Expression by RNA–Seq: A New Perspective

  2012cited by this paper
• Postnatal Changes in the Expression Pattern of the Imprinted Signalling Protein XLαs Underlie the Changing Phenotype of Deficient Mice

  2012cited by this paper
• Loss of the Prader-Willi obesity syndrome protein necdin promotes adipogenesis.

  2012cited by this paper
• The mammalian gene function resource: the international knockout mouse consortium

  2012cited by this paper
• Airn Transcriptional Overlap, But Not Its lncRNA Products, Induces Imprinted Igf2r Silencing

  2012cited by this paper
• Paternal uniparental disomy 14 and related disorders

  2012cited by this paper
• Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

  2012cited by this paper
• Relative Functions of Gαs and its Extra-large Variant XLαs in the Endocrine System

  2012cited by this paper
• Gsα deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with Gsα mutations.

  2012cited by this paper
• Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

  2012cited by this paper
• New Mutations at the Imprinted Gnas Cluster Show Gene Dosage Effects of Gsα in Postnatal Growth and Implicate XLαs in Bone and Fat Metabolism but Not in Suckling

  2012cited by this paper
• Re-investigation and RNA sequencing-based identification of genes with placenta-specific imprinted expression.

  2012cited by this paper
• Necdin Controls Proliferation of White Adipocyte Progenitor Cells

  2012cited by this paper
• The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

  2012cited by this paper
• Base-resolution analyses of sequence and parent-of-origin dependent DNA methylation in the mouse genome.

  2012cited by this paper
• Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.

  2012cited by this paper
• Beyond knockouts: cre resources for conditional mutagenesis

  2012cited by this paper
• Loss of Gnas Imprinting Differentially Affects REM/NREM Sleep and Cognition in Mice

  2012cited by this paper
• Imprinted Gene Dosage Is Critical for the Transition to Independent Life

  2012cited by this paper
• Phosphoproteomic Analysis Identifies Grb10 as an mTORC1 Substrate That Negatively Regulates Insulin Signaling

  2011cited by this paper
• Uncoupling Antisense-Mediated Silencing and DNA Methylation in the Imprinted Gnas Cluster

  2011cited by this paper
• Genomic imprinting: a mammalian epigenetic discovery model.

  2011cited by this paper
• Mice Lacking Ras-GRF1 Show Contextual Fear Conditioning but not Spatial Memory Impairments: Convergent Evidence from Two Independently Generated Mouse Mutant Lines

  2011cited by this paper
• Transcription and histone methylation changes correlate with imprint acquisition in male germ cells

  2011cited by this paper
• The thyroid hormone-inactivating type III deiodinase is expressed in mouse and human beta-cells and its targeted inactivation impairs insulin secretion.

  2011cited by this paper
• The mTOR-Regulated Phosphoproteome Reveals a Mechanism of mTORC1-Mediated Inhibition of Growth Factor Signaling

  2011cited by this paper
• mTOR couples cellular nutrient sensing to organismal metabolic homeostasis.

  2011cited by this paper
• Bidirectional Control of Social Hierarchy by Synaptic Efficacy in Medial Prefrontal Cortex

  2011cited by this paper
• Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

  2011cited by this paper
• The role of imprinted genes in humans

  2011cited by this paper
• Postnatal loss of Dlk1 imprinting in stem cells and niche-astrocytes regulates neurogenesis

  2011cited by this paper
• Imprinted Genes That Regulate Early Mammalian Growth Are Coexpressed in Somatic Stem Cells

  2011cited by this paper
• Lung stem cell self-renewal relies on BMI1-dependent control of expression at imprinted loci.

  2011cited by this paper
• Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

  2011cited by this paper
• Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

  2011cited by this paper
• The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

  2010cited by this paper
• The role of GNAS and other imprinted genes in the development of obesity

  2010cited by this paper
• A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.

  2010cited by this paper
• Transient neonatal diabetes mellitus type 1

  2010cited by this paper
• Distinct physiological and behavioural functions for parental alleles of imprinted Grb10

  2010cited by this paper
• Imprinting on chromosome 20: Tissue‐specific imprinting and imprinting mutations in the GNAS locus

  2010cited by this paper
• The H19 locus: Role of an imprinted non‐coding RNA in growth and development

  2010cited by this paper
• Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

  2010cited by this paper
• A MODEL FOR GENOMIC IMPRINTING IN THE SOCIAL BRAIN: JUVENILES

  2010cited by this paper
• Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs

  2010cited by this paper
• Genomic imprinting syndromes and cancer.

  2010cited by this paper
• Prader–Willi syndrome and Angelman syndrome

  2010cited by this paper
• Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib

  2010cited by this paper
• The interrelationship between sleep regulation and thermoregulation.

  2010cited by this paper
• Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation.

  2009cited by this paper
• Dominant rats are natural risk takers and display increased motivation for food reward.

  2009cited by this paper
• A missense mutation in the non-neural G-protein α-subunit isoforms modulates susceptibility to obesity

  2009cited by this paper
• Transcription is required for establishment of germline methylation marks at imprinted genes.

  2009cited by this paper
• Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

  2009cited by this paper
• Gene Dosage Effects of the Imprinted Delta-Like Homologue 1 (Dlk1/Pref1) in Development: Implications for the Evolution of Imprinting

  2009cited by this paper
• Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation.

  2009cited by this paper
• Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region.

  2008cited by this paper
• Metabolic programming in the immediate postnatal period.

  2008cited by this paper
• Epigenetics, brain evolution and behaviour.

  2008cited by this paper
• Global survey of genomic imprinting by transcriptome sequencing.

  2008cited by this paper
• WAMIDEX: A web atlas of murine genomic imprinting and differential expression

  2008cited by this paper
• Genomic imprinting at the mammalian Dlk1-Dio3 domain.

  2008cited by this paper
• The Air Noncoding RNA Epigenetically Silences Transcription by Targeting G9a to Chromatin

  2008cited by this paper
• Huddling: brown fat, genomic imprinting and the warm inner glow.

  2008cited by this paper
• Physiological dysfunctions associated with mutations of the imprinted Gnas locus.

  2008cited by this paper
• SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice

  2008cited by this paper
• A mono‐allelic bivalent chromatin domain controls tissue‐specific imprinting at Grb10

  2008cited by this paper
• The imprinted gene Magel2 regulates normal circadian output

  2007cited by this paper
• Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results in Postnatal Growth Retardation

  2007cited by this paper
• Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life.

  2007cited by this paper
• Mice with a Disruption of the Imprinted Grb10 Gene Exhibit Altered Body Composition, Glucose Homeostasis, and Insulin Signaling during Postnatal Life

  2007cited by this paper
• Genomic imprinting effects on brain development and function

  2007cited by this paper
• Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

  2007cited by this paper
• The Alternative Stimulatory G Protein α-Subunit XLαs Is a Critical Regulator of Energy and Glucose Metabolism and Sympathetic Nerve Activity in Adult Mice*

  2006cited by this paper
• Imprinting control within the compact Gnas locus

  2006cited by this paper
• Genomic Imprinting and Cancer: From Primordial Germ Cells to Somatic Cells

  2006cited by this paper
• Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality

  2006cited by this paper
• Genomic imprinting and the social brain

  2006cited by this paper
• Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes.

  2006cited by this paper
• Type 3 deiodinase is critical for the maturation and function of the thyroid axis.

  2006cited by this paper
• Angelman syndrome 2005: Updated consensus for diagnostic criteria

  2006cited by this paper
• The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice.

  2006cited by this paper
• Global loss of imprinting leads to widespread tumorigenesis in adult mice.

  2005cited by this paper
• A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.

  2005cited by this paper

• Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader–Willi and Angelman Syndromes: A Review

  2026cites this paper
• Intragenomic conflict associated with extreme phenotypic plasticity in queen-worker caste determination in honey bees (Apis mellifera)

  2025cites this paper
• Maternal hypoxia exposure perturbs imprinted gene methylation in adult sperm and induces intergenerational placental impairments in male offspring.

  2025cites this paper
• Tracking and mitigating imprint erasure during induction of naive human pluripotency at single-cell resolution

  2025cites this paper
• Reversible Histone Acetylation During Preimplantation Embryo Development in Mammals.

  2025cites this paper
• Association of DLK1 SNPs with body mass index and plasma lipid levels in children

  2025cites this paper
• Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci.

  2025cites this paper
• Long non coding RNA function in epigenetic memory with a particular emphasis on genomic imprinting and X chromosome inactivation.

  2025cites this paper
• Implications of genetic and epigenetic aberrations to the tumorigenicity of human pluripotent stem cells.

  2025cites this paper
• Gender and sex interactions are intrinsic components of cancer phenotypes

  2025cites this paper
• Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies

  2025cites this paper
• Single-cell transcriptome analysis reveals abnormal angiogenesis and placentation by loss of imprinted glutaminyl-peptide cyclotransferase

  2025cites this paper
• Generation of live mice from haploid ESCs with germline-DMR deletions or switch

  2025cites this paper
• PHLDA2 promotes breast cancer metastasis by co-opting a developmental program for placental vascular remodeling

  2025cites this paper
• mRNA 3′ UTRs direct microRNA degradation to participate in imprinted gene networks and regulate growth

  2025cites this paper
• PLAGL1-IGF2 axis regulates osteogenesis of postnatal condyle development

  2025cites this paper
• Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice

  2025cites this paper
• Extrinsic and intrinsic drivers of natural killer cell clonality

  2024cites this paper
• MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome

  2024cites this paper
• Protocol for DNA Methylation Editing of Imprinted Loci and Assessment of the Effects.

  2024cites this paper
• Differential 3D genome architecture and imprinted gene expression: cause or consequence?

  2024cites this paper
• Epigenome editing for targeted DNA (de)methylation: a new perspective in modulating gene expression

  2024cites this paper
• Allelic reprogramming of chromatin states in human early embryos

  2024cites this paper
• The genome of Przewalski’s horse (Equus ferus przewalskii)

  2024cites this paper
• Epigenetics and the neurodegenerative process.

  2024cites this paper
• The transgenerational effects of maternal low-protein diet during lactation on offspring.

  2024cites this paper
• Adverse effects of bisphenol A and its analogues on male fertility: An epigenetic perspective.

  2024cites this paper
• ZFAT (isoform-specific) and its antisense RNA 1 (ZFAT-AS1) are two allele-specific monoallelically expressed genes in cattle.

  2024cites this paper
• Differential methylation patterns in paternally imprinted gene promoter regions in sperm from hepatitis B virus infected individuals

  2024cites this paper
• Epigenetic developmental mechanisms underlying sex differences in cancer

  2024influential citation
• Livestock species as emerging models for genomic imprinting

  2024cites this paper
• Regulation of de novo and maintenance DNA methylation by DNA methyltransferases in postimplantation embryos

  2024cites this paper
• PRKACB is a novel imprinted gene in marsupials

  2024cites this paper
• Tissue-wide scRNA-seq analysis reveals enrichment of imprinted genes in stem and endocrine cell-types in mice

  2023cites this paper
• ZFP57 is a regulator of postnatal growth and life-long health

  2023cites this paper
• Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review

  2023cites this paper
• Harnessing bioluminescence for drug discovery and epigenetic research

  2023cites this paper
• Candidate genes associated with heat stress and breeding strategies to relieve its effects in dairy cattle: a deeper insight into the genetic architecture and immune response to heat stress

  2023cites this paper
• Differential Expression of RNAseq Imprinted Genes from Bovine Females Before and After Puberty

  2023influential citation
• Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals

  2023cites this paper
• Regulation of beige adipocyte thermogenesis by the cold-repressed ER protein NNAT

  2023cites this paper
• Noncanonical regulation of imprinted gene Igf2 by amyloid-beta 1–42 in Alzheimer’s disease

  2023cites this paper
• Paternal UPD14 with sSMC derived from chromosome 14 in Kagami–Ogata syndrome

  2023cites this paper
• Imprinted Long Non-Coding RNAs in Mammalian Development and Disease

  2023influential citation
• The influence of early environment and micronutrient availability on developmental epigenetic programming: lessons from the placenta

  2023cites this paper
• The Placental Function Beyond Pregnancy: Insights from Latin America.

  2023cites this paper
• The impact of epigenetic mechanisms in migraine: Current knowledge and future directions

  2023cites this paper
• Inheritance of paternal lifestyles and exposures through sperm DNA methylation

  2023cites this paper
• Imprinting and Reproductive Health: A Toxicological Perspective

  2023cites this paper
• When Dad’s Stress Gets under Kid’s Skin—Impacts of Stress on Germline Cargo and Embryonic Development

  2023cites this paper
• Mechanisms of transgenerational epigenetic inheritance: lessons from animal model organisms.

  2023cites this paper
• Hallmark discoveries in the biology of Wilms tumour

  2023cites this paper
• Cynomolgus-rhesus hybrid macaques serve as a platform for imprinting studies

  2023cites this paper
• Tissue-specific Grb10/Ddc insulator drives allelic architecture for cardiac development.

  2022cites this paper
• Variable allelic expression of imprinted genes at the Peg13, Trappc9, Ago2 cluster in single neural cells

  2022influential citation
• Establishment and inheritance of epigenetic transcriptional memory

  2022cites this paper
• Loss of Monoallelic Expression of IGF2 in the Adult Liver Via Alternative Promoter Usage and Chromatin Reorganization

  2022cites this paper
• Mechanisms of chromatin-based epigenetic inheritance

  2022cites this paper
• Placental imprinting of SLC22A3 in the IGF2R imprinted domain is conserved in therian mammals

  2022cites this paper
• Harnessing the Full Potential of Multi-Omic Analyses to Advance the Study and Treatment of Chronic Kidney Disease

  2022cites this paper
• The Defects of Epigenetic Reprogramming in Dox-Dependent Porcine-iPSCs

  2022cites this paper
• PMM2 and NARFL are paternally imprinted genes in bovines.

  2022cites this paper
• The contribution of imprinted genes to neurodevelopmental and neuropsychiatric disorders

  2022cites this paper
• Detection of Parent-of-Origin Effects for the Variants Associated With Behavioral Disinhibition in the MCTFR Data

  2022cites this paper
• De novo programming: establishment of epigenome in mammalian oocytes

  2022cites this paper
• Analysis of parent‐of‐origin effects for secondary phenotypes using case–control mother–child pair data

  2022cites this paper
• Sex-specific placental gene expression signatures of small for gestational age at birth.

  2022cites this paper
• POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes

  2022cites this paper
• Genomic Imprinting in the New Omics Era: A Model for Systems-Level Approaches

  2022cites this paper
• Noncanonical genomic imprinting in the monoamine system determines naturalistic foraging and brain-adrenal axis functions

  2022cites this paper
• The evolution of religiosity by kin selection

  2022cites this paper
• A Syndrome of Variable Allergy, Short Stature, and Fatty Liver

  2022cites this paper
• The Mechanism Underlying the Regulation of Long Non-coding RNA MEG3 in Cerebral Ischemic Stroke

  2022cites this paper
• Paternally expressed gene 3 (Pw1/Peg3) promotes sexual dimorphism in metabolism and behavior

  2022cites this paper
• Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome

  2022cites this paper
• Untangling the placentome gene network of beef heifers in early gestation.

  2022cites this paper
• Epigenetics in reproduction and development

  2022cites this paper
• The kin selection theory of genomic imprinting and modes of reproduction in the eusocial Hymenoptera

  2022cites this paper
• Fetal Morph Functional Diagnosis

  2021influential citation
• Epigenetic regulation during placentation

  2021cites this paper
• Folate deficiency disturbs PEG10 methylation modifications in human spina bifida

  2021cites this paper
• ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

  2021cites this paper
• Intellectual disability genomics: current state, pitfalls and future challenges

  2021cites this paper
• The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets

  2021influential citation
• Preterm Birth

  2021cites this paper
• Diverse epigenetic mechanisms maintain parental imprints within the embryonic and extraembryonic lineages.

  2021cites this paper
• Epigenetics and Some Further Observations on Stress-Induced Diseases

  2021cites this paper
• Large-scale analysis of imprinting in naive human pluripotent stem cells reveals recurrent aberrations and a potential link to FGF signaling

  2021cites this paper
• Transcriptomics in rare diseases

  2021cites this paper
• Facultative Parthenogenesis in California Condors

  2021cites this paper
• DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting

  2021cites this paper
• Alteration of Genomic Imprinting after Assisted Reproductive Technologies and Long-Term Health

  2021cites this paper
• Analysis of developmental imprinting dynamics in primates using SNP-free methods to identify imprinting defects in cloned placenta.

  2021cites this paper
• Genomic imprinting of the IGF2R/AIR locus is conserved between bovines and mice.

  2021cites this paper
• CRISPR/Cas9 small promoter deletion in H19 lncRNA is associated with altered cell morphology and proliferation

  2021cites this paper
• Parental methylome reprogramming in human uniparental blastocysts reveals germline memory transition

  2021cites this paper
• Exploring chromatin structural roles of non-coding RNAs at imprinted domains

  2021cites this paper
• The subcortical maternal complex: emerging roles and novel perspectives.

  2021cites this paper
• Epigenetic memories and the evolution of infectious diseases

  2021cites this paper
• Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P)

  2021cites this paper