相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Epigenetics in Prader-Willi Syndrome
Aron Judd P. Mendiola et al.
FRONTIERS IN GENETICS (2021)
Epimutation of MMACHC compound to a genetic mutation in cblC cases
Xiaoman Zhang et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
Catia Cavicchi et al.
CLINICAL EPIGENETICS (2021)
Expression Atlas update: from tissues to single cells
Irene Papatheodorou et al.
NUCLEIC ACIDS RESEARCH (2020)
Protective Role of Peroxiredoxins against Reactive Oxygen Species in Neonatal Rat Testicular Gonocytes
Cristian O'Flaherty et al.
ANTIOXIDANTS (2020)
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Suhee Chang et al.
DISEASE MODELS & MECHANISMS (2020)
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
Paras Garg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons
Maeva Langouet et al.
HUMAN MOLECULAR GENETICS (2020)
PRDX1 Counteracts Catastrophic Telomeric Cleavage Events That Are Triggered by DNA Repair Activities Post Oxidative Damage
Wareed Ahmed et al.
CELL REPORTS (2020)
A mouse model of Angelman syndrome imprinting defects
Michael W. Lewis et al.
HUMAN MOLECULAR GENETICS (2019)
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
Jasmin Beygo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
The long non-coding RNA H19: an active player with multiple facets to sustain the hallmarks of cancer
Clement Lecerf et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2019)
Long Noncoding RNAs in Pathological Cardiac Remodeling: A Review of the Update Literature
Huan Zhou et al.
BIOMED RESEARCH INTERNATIONAL (2019)
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management
Kelly A. Duffy et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente et al.
GENETICS IN MEDICINE (2019)
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss
Frederic Brioude et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
Frederic Brioude et al.
NATURE REVIEWS ENDOCRINOLOGY (2018)
Inhibition of p16INK4A to Rejuvenate Aging Human Cardiac Progenitor Cells via the Upregulation of Anti-oxidant and NFκB Signal Pathways
Roshni V. Khatiwala et al.
STEM CELL REVIEWS AND REPORTS (2018)
Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR
Keiichiro Joh et al.
EPIGENETICS & CHROMATIN (2018)
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients (vol 9, 67, 2017)
Jean-Louis Gueant et al.
NATURE COMMUNICATIONS (2018)
Inhibition of p16INK4A to Rejuvenate Aging Human Cardiac Progenitor Cells via the Upregulation of Anti-oxidant and NFκB Signal Pathways
Roshni V. Khatiwala et al.
STEM CELL REVIEWS AND REPORTS (2018)
BAH domains and a histone-like motif in DNA methyltransferase 1 (DNMT1) regulate de novo and maintenance methylation in vivo
Olya Yarychkivska et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Peroxiredoxin 1-an antioxidant enzyme in cancer
Chenbo Ding et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2017)
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Martina Huemer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease
Danuta M. Jeziorska et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
DNA methylation and DNA methyltransferases
John R. Edwards et al.
EPIGENETICS & CHROMATIN (2017)
Vitamin B12 deficiency
Ralph Green et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
The role of peroxiredoxin 1 in redox sensing and transducing
Elizabeth C. Ledgerwood et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2017)
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism
David Watkins et al.
BIOCHIMIE (2016)
Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation
Megan P. Hitchins
FAMILIAL CANCER (2016)
Chromatin-Mediated Reversible Silencing of Sense-Antisense Gene Pairs in Embryonic Stem Cells Is Consolidated upon Differentiation
Friedemann Loos et al.
MOLECULAR AND CELLULAR BIOLOGY (2015)
Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation
Tuncay Baubec et al.
NATURE (2015)
The epigenome-a family affair
John R. McCarrey
SCIENCE (2015)
Disruption of histone methylation in developing sperm impairs offspring health transgenerationally
Keith Siklenka et al.
SCIENCE (2015)
Multigenerational and transgenerational effects of endocrine disrupting chemicals: A role for altered epigenetic regulation?
Frances Xin et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2015)
Environmentally induced epigenetic transgenerational inheritance of disease susceptibility
Eric E. Nilsson et al.
TRANSLATIONAL RESEARCH (2015)
PARTICLE, a Triplex-Forming Long ncRNA, Regulates Locus-Specific Methylation in Response to Low-Dose Irradiation
Valerie Brid O'Leary et al.
CELL REPORTS (2015)
Screening aberrant methylation profile in esophageal squamous cell carcinoma for Kazakhs in Xinjiang area of China
Yan Chen et al.
MOLECULAR BIOLOGY REPORTS (2015)
Angelman syndrome imprinting center encodes a transcriptional promoter
Michael W. Lewis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Deep sequencing and de novo assembly of the mouse oocyte transcriptome define the contribution of transcription to the DNA methylation landscape
Lenka Veselovska et al.
GENOME BIOLOGY (2015)
Transgenerational Epigenetic Inheritance: Myths and Mechanisms
Edith Heard et al.
CELL (2014)
Reprogramming the Methylome: Erasing Memory and Creating Diversity
Heather J. Lee et al.
CELL STEM CELL (2014)
Genomic imprinting in development, growth, behavior and stem cells
Robert N. Plasschaert et al.
DEVELOPMENT (2014)
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs
Estela Cruvinel et al.
HUMAN MOLECULAR GENETICS (2014)
In utero undernourishment perturbs the adult sperm methylome and intergenerational metabolism
Elizabeth J. Radford et al.
SCIENCE (2014)
Dominant Role of Peroxiredoxin/JNK Axis in Stemness Regulation During Neurogenesis from Embryonic Stem Cells
Sun-Uk Kim et al.
STEM CELLS (2014)
On the meaning of the word 'epimutation'
H. Oey et al.
TRENDS IN GENETICS (2014)
Genomic Imprinting in Mammals
Denise P. Barlow et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2014)
Prevalence of Beckwith-Wiedemann Syndrome in North West of Italy
Alessandro Mussa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
New insights into establishment and maintenance of DNA methylation imprints in mammals
Gavin Kelsey et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2013)
Folate and fetal programming: a play in epigenomics?
Jean-Louis Gueant et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2013)
RNA Polymerase II Collision Interrupts Convergent Transcription
David J. Hobson et al.
MOLECULAR CELL (2012)
Epigenetics in disease Leader or follower?
David I. K. Martin et al.
EPIGENETICS (2011)
Maintenance of DNA methylation Dnmt3b joins the dance
Emma L. Walton et al.
EPIGENETICS (2011)
Chromosome-Wide Analysis of Parental Allele-Specific Chromatin and DNA Methylation
Purnima Singh et al.
MOLECULAR AND CELLULAR BIOLOGY (2011)
Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus
Emily Y. Smith et al.
PLOS GENETICS (2011)
Beckwith-Wiedemann syndrome
Rosanna Weksberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues
Guillaume Velasco et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Fetal and Neonatal Exposure to the Endocrine Disruptor Methoxychlor Causes Epigenetic Alterations in Adult Ovarian Genes
Aparna Mahakali Zama et al.
ENDOCRINOLOGY (2009)
Transcription is required for establishment of germline methylation marks at imprinted genes
Mita Chotalia et al.
GENES & DEVELOPMENT (2009)
Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence
Amanda D. Loewy et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 ' exons of TACSTD1
Marjolijn J. L. Ligtenberg et al.
NATURE GENETICS (2009)
Genetic considerations in the prenatal diagnosis of overgrowth syndromes
Neeta Vora et al.
PRENATAL DIAGNOSIS (2009)
DNA methylation reprogramming in the germ line
Diane J. Lees-Murdock et al.
EPIGENETICS (2008)
The H19 locus acts in vivo as a tumor suppressor
Tomomi Yoshimizu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Mechanisms regulating imprinted genes in clusters
Carol A. Edwards et al.
CURRENT OPINION IN CELL BIOLOGY (2007)
Brief report:: Inheritance of a cancer-associated MLH1 germ-line epimutation
Megan P. Hitchins et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Collision events between RNA polymerases in convergent transcription studied by atomic force microscopy
Neal Crampton et al.
NUCLEIC ACIDS RESEARCH (2006)
Transcriptional interference - a crash course
KE Shearwin et al.
TRENDS IN GENETICS (2005)
DNA methyltransferase expression in the mouse germ line during periods of de novo methylation
DJ Lees-Murdock et al.
DEVELOPMENTAL DYNAMICS (2005)
Two enzymes in one: Two yeast peroxiredoxins display oxidative stress-dependent switching from a peroxidase to a molecular chaperone function
HH Jang et al.
CELL (2004)
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
C Tufarelli et al.
NATURE GENETICS (2003)
Pag, a putative tumor suppressor, interacts with the Myc Box II domain of C-myc and selectively alters its biological function and target gene expression
ZM Mu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Pathways of induction of peroxiredoxin I expression in osteoblasts - Roles of p38 mitogen-activated protein kinase and protein kinase C
BJ Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation:: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
J Bliek et al.
HUMAN MOLECULAR GENETICS (2001)
Hypoglycemia in Beckwith-Wiedemann syndrome
MR DeBaun et al.
SEMINARS IN PERINATOLOGY (2000)