Towards a molecular understanding of Prader-Willi and Angelman syndromes.

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Human Molecular Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/8.10.1867PMID 10469839
• 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.

• Angelman syndrome.

  2019cited by this paper
• Mechanisms of genomic imprinting.

  2000cited by this paper
• Imprinting-mutation mechanisms in Prader-Willi syndrome.

  1999cited by this paper
• The spectrum of mutations in UBE3A causing Angelman syndrome.

  1999cited by this paper
• Mechanisms of genomic imprinting.

  1999cited by this paper
• An imprinted, mammalian bicistronic transcript encodes two independent proteins.

  1999cited by this paper
• Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

  1999cited by this paper
• In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.

  1999cited by this paper
• The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.

  1999influential reference
• A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.

  1999cited by this paper
• Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice

  1999cited by this paper
• Prader-Willi syndrome is caused by disruption of the SNRPN gene.

  1999cited by this paper
• Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region.

  1999cited by this paper
• Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

  1998cited by this paper
• Imprinting in Angelman and Prader-Willi syndromes.

  1998cited by this paper
• A mouse model for Prader-Willi syndrome imprinting-centre mutations

  1998influential reference
• Mice Lacking the β3 Subunit of the GABAA Receptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

  1998cited by this paper
• Competitive edge at the imprinted Prader-Willi/Angelman region?

  1998cited by this paper
• An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

  1998cited by this paper
• The mechanisms involved in formation of deletions and duplications of 15q11-q13.

  1998cited by this paper
• Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.

  1998influential reference
• Methylation analysis of the PWS/AS region does not support an enhancer-competition model

  1998cited by this paper
• Structure and function correlations at the imprinted mouse Snrpn locus

  1998cited by this paper
• Imprinting in Prader-Willi and Angelman syndromes.

  1998influential reference
• Mutation analysis of UBE3A in Angelman syndrome patients.

  1998influential reference
• Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

  1998cited by this paper
• Imprinting mechanisms.

  1998cited by this paper
• Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenic Drosophila.

  1998cited by this paper
• Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.

  1998cited by this paper
• A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

  1998cited by this paper
• Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

  1998cited by this paper
• Prader-Willi syndrome.

  1997cited by this paper
• The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

  1997cited by this paper
• Competition—a common motif for the imprinting mechanism?

  1997cited by this paper
• Genomic imprinting in mammals.

  1997cited by this paper
• Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

  1997cited by this paper
• Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

  1997cited by this paper
• Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.

  1997cited by this paper
• Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

  1997cited by this paper
• De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

  1997cited by this paper
• Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

  1997cited by this paper
• The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

  1997cited by this paper
• A candidate model for angelman syndrome in the mouse

  1997cited by this paper
• Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior.

  1997cited by this paper
• The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

  1997cited by this paper
• Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

  1997cited by this paper
• Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern.

  1997cited by this paper
• The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region

  1997cited by this paper
• Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

  1997cited by this paper
• Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior

  1997cited by this paper
• Homologous Association of Oppositely Imprinted Chromosomal Domains

  1996cited by this paper
• Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

  1996cited by this paper
• Imprinting moves to the centre

  1996cited by this paper
• UBE3A/E6-AP mutations cause Angelman syndrome

  1996cited by this paper
• Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.

  1996cited by this paper
• Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region.

  1996cited by this paper
• Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

  1996cited by this paper
• Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

  1996cited by this paper
• Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

  1996cited by this paper
• Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

  1995cited by this paper
• Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

  1995cited by this paper
• Characteristics of imprinted genes

  1995cited by this paper
• Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.

  1995cited by this paper
• Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

  1994cited by this paper
• Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

  1994cited by this paper
• Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

  1993cited by this paper
• Allele-specific replication timing of imprinted gene regions

  1993cited by this paper
• Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

  1993cited by this paper
• Functional imprinting and epigenetic modification of the human SNRPN gene.

  1993cited by this paper
• Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

  1993cited by this paper
• Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

  1992cited by this paper
• A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

  1992cited by this paper
• Angelman syndrome.

  1992cited by this paper
• Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

  1992cited by this paper
• A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.

  1992cited by this paper

• Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader–Willi and Angelman Syndromes: A Preliminary Investigation

  2024cites this paper
• Cognition and behaviour

  2019cites this paper
• Genetics and Epigenetics of Substance Use

  2019cites this paper
• Genetic architecture of atherosclerosis dissected by QTL analyses in three F2 intercrosses of apolipoprotein E-null mice on C57BL6/J, DBA/2J and 129S6/SvEvTac backgrounds

  2017cites this paper
• Epigenetic Mechanisms and Some Recent Studies

  2016cites this paper
• Interstitial Rearrangements by MLPA and QMPSF

  2016influential citation
• From paramutation to human disease: RNA-mediated heredity.

  2015cites this paper
• EPIGENTSKA OSNOVA GENOMSKOG IMPRINTINGA: PRADER - WILLI I ANGELMAN

  2015cites this paper
• Chronic exposure to ethanol in male mice may be associated with hearing loss in offspring

  2015cites this paper
• Paternal ethanol exposure and behavioral abnormities in offspring: associated alterations in imprinted gene methylation.

  2014cites this paper
• E6AP in the Brain: One Protein, Dual Function, Multiple Diseases

  2014cites this paper
• The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome

  2014cites this paper
• Genetics of Idiopathic Scoliosis

  2014cites this paper
• The role of maternal age in the aetiology of autism using population based studies

  2014cites this paper
• Identification of Novel Imprinted Differentially Methylated Regions by Global Analysis of Human-Parthenogenetic-Induced Pluripotent Stem Cells

  2013cites this paper
• Obesity Genetics: A Monopoly Game of Genes

  2013cites this paper
• Autism andMental Retardation AmongOffspring Born After In Vitro Fertilization

  2013cites this paper
• Autism and mental retardation among offspring born after in vitro fertilization.

  2013cites this paper
• The Transcriptional Coactivation Function of E6-Associated Protein in the Brain: Novel Insights into the Pathobiology of Angelman Syndrome

  2013cites this paper
• The Need for Long-Term Follow-Up of Children Conceived Through ICSI

  2013cites this paper
• Sex bias in copy number variation of olfactory receptor gene family depends on ethnicity

  2013influential citation
• Oct4 and Sox2 regulate methylation at the Igf2/H19 imprinting control region

  2012cites this paper
• Epigenetics and Assisted Reproductive Technology

  2012cites this paper
• El estudio cromosómico y la técnica de hibridación in situ con fluorescencia (FISH) en el diagnóstico de sindromes de microdeleción

  2012cites this paper
• Advanced paternal age increases the risk of schizophrenia and obsessive–compulsive disorder in a Chinese Han population

  2012cites this paper
• Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers.

  2012cites this paper
• Prader–Willi Syndrome, from Molecular Testing and Clinical Study to Diagnostic Protocols

  2011cites this paper
• Revisión de los principales genes involucrados en el desarrollo de la obesidad Review of the main genes involved in the development of obesity

  2011cites this paper
• Microdeletions and molecular genetics

  2011cites this paper
• Epigenetic transgenerational actions of endocrine disruptors.

  2011cites this paper
• THE VELOCARDIOFACIAL SYNDROME THE PRADER-WILLI SYNDROME AND THE ANGELMAN SYNDROME NEUROFIBROMATOSIS THE WILLIAMS SYNDROME

  2011cites this paper
• Revisión de los principales genes involucrados en el desarrollo de la obesidad

  2011cites this paper
• Prader-Willi Syndrome and diagnostic protocols: a preliminary study in Romania Sindromul Prader-Willi si protocoale de diagnostic: studiu preliminar in Romania

  2010cites this paper
• Facts About Angelman Syndrome 7

  2010cites this paper
• Prader-Willi Syndrome and diagnostic protocols: a preliminary study in Romania

  2010cites this paper
• Mode of transmission of schizophrenia.

  2010cites this paper
• Epigenetic transgenerational actions of environmental factors in disease etiology.

  2010cites this paper
• 96 – Diseases of Hypothalamic Origin

  2009cites this paper
• Imprinting disorders and assisted reproductive technology.

  2009cites this paper
• Effect of alcohol consumption on CpG methylation in the differentially methylated regions of H19 and IG-DMR in male gametes: implications for fetal alcohol spectrum disorders.

  2009cites this paper
• Epigenetic Mechanisms and their Toxicological Significance

  2009cites this paper
• Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders : consequences for DNA-diagnostics

  2009cites this paper
• Schizophrenia and birthplace of paternal and maternal grandfather in the Jerusalem perinatal cohort prospective study.

  2009cites this paper
• ASOCIACIÓN DE POLIMORFISMOS EN EL GEN ADIPOQ CON LA PRESENCIA DE OBESIDAD EN NIÑOS MEXICANOS

  2008cites this paper
• Expression of murine DNA methyltransferases Dnmt1 and Dnmt3a in the yeast Saccharomyces cerevisiae

  2007cites this paper
• Molecular diagnosis of Prader-Willi Syndrome and relative study

  2007influential citation
• Investigation of parent‐of‐origin effects in ADHD candidate genes

  2007cites this paper
• Genes and common diseases: genetics in modern medicine.

  2007cites this paper
• Aberrant Genomic Imprinting in Rhesus Monkey Embryonic Stem Cells

  2006cites this paper
• Atlas of Genetics and Cytogenetics in Oncology and Haematology Microdeletions and Molecular Genetics

  2006cites this paper
• The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.

  2006cites this paper
• Regulation of growth and metabolism by imprinted genes

  2006cites this paper
• Fetal wastage: molecular basis

  2006cites this paper
• Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy.

  2006cites this paper
• Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

  2006cites this paper
• Establishment of the primary imprint of the HYMAI/PLAGL1 imprint control region during oogenesis

  2006cites this paper
• Advancing paternal age and autism.

  2006cites this paper
• Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells

  2005cites this paper
• Genetic Analysis of Complex Diseases: Second Edition

  2005cites this paper
• Neurological aspects of the Angelman syndrome.

  2005cites this paper
• Development of a monkey model for the study of primate genomic imprinting.

  2005cites this paper
• Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.

  2005cites this paper
• Methylation of estrogen receptor beta promoter correlates with loss of ER-beta expression in mammary carcinoma and is an early indication marker in premalignant lesions.

  2005cites this paper
• A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient.

  2005cites this paper
• Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects

  2005cites this paper
• Genomic Imprinting and Assisted Reproductive Technology: Connections and Potential Risks

  2005cites this paper
• Toward a developmental neurobiology of autism.

  2004cites this paper
• [DNA methylation: an epigenetic process of medical importance].

  2004cites this paper
• Dysmorphology and the orbital region: a practical clinical approach.

  2004cites this paper
• Funkcjonalne znaczenie redagowania transkryptłw przez deaminazę adenozyny dwuniciowego RNA

  2004cites this paper
• Positionsklonierung des Locus für das Myoklonus-Dystonia-Syndrom (MDS) und Untersuchung des Epsilon-Sarkoglykan-Gens (SGCE) auf genomische Prägung

  2004cites this paper
• Antisense regulation in X inactivation and autosomal imprinting

  2003cites this paper
• Molecular links between X-inactivation and autosomal imprinting: X-inactivation as a driving force for the evolution of imprinting?

  2003influential citation
• Case Report: Angelman Syndrome in an Individual with a Small SMC(15) and Paternal Uniparental Disomy: A Case Report with Reference to the Assessment of Cognitive Functioning and Autistic Symptomatology

  2003cites this paper
• Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.

  2003cites this paper
• A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.

  2003cites this paper
• Nonautoimmune Forms of Diabetes

  2003cites this paper
• Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland

  2003cites this paper
• Les retards mentaux d’origine génétique

  2003cites this paper
• Rett Sendromu ile Angelman Sendromu Aras›nda Ay›r›c› Tan›: bir Olgunun Kesin Tan›s›nda Genetik ‹nceleme

  2003cites this paper
• A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS

  2002cites this paper
• Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: A cost comparison

  2002cites this paper
• Parental genomic imprinting in endocrinopathies.

  2002cites this paper
• Molecular genetics and animal models in autistic disorder.

  2002cites this paper
• Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.

  2002influential citation
• RNA hairpins in noncoding regions of human brain and Caenorhabditis elegans mRNA are edited by adenosine deaminases that act on RNA

  2002cites this paper
• Schizophrenia Risk and Paternal Age: A Potential Role for De Novo Mutations in Schizophrenia Vulnerability Genes

  2002cites this paper
• Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

  2002cites this paper
• Diagnostic testing in neurogenetics. Principles, limitations, and ethical considerations.

  2002cites this paper
• Hypothalamic obesity in humans: what do we know and what can be done?

  2002cites this paper
• The Prader-Willi syndrome and the Angelman syndrome.

  2002cites this paper
• Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.

  2001influential citation
• A functional role for Tsix transcription in blocking Xist RNA accumulation but not in X-chromosome choice

  2001cites this paper
• Angelman syndrome: mimicking conditions and phenotypes.

  2001cites this paper
• The ubiquitin‐proteasome pathway and proteasome inhibitors

  2001cites this paper
• Imprinted genes and mental dysfunction

  2001cites this paper
• Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes.

  2001cites this paper
• Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation.

  2001cites this paper
• Maternal uniparental disomy of human chromosome 7

  2001influential citation
• Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

  2001cites this paper