Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

Fragile X syndrome due to a missense mutation

(2014) Leila K Myrick et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome

(2014) Dmitry Yudkin et al.   HUMAN MOLECULAR GENETICS

X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion

(2014) R. Adihe Lokanga et al.   HUMAN MOLECULAR GENETICS

CGG allele size somatic mosaicism and methylation inFMR1premutation alleles

(2014) Dalyir I Pretto et al.   JOURNAL OF MEDICAL GENETICS

Quiescence-Induced LncRNAs Trigger H4K20 Trimethylation and Transcriptional Silencing

(2014) Holger Bierhoff et al.   MOLECULAR CELL

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study

(2014) Nicholas Trost et al.   Neurodegenerative Diseases

Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome

(2014) D. Colak et al.   SCIENCE

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

(2013) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1locus

(2013) Reid S Alisch et al.   BMC Medical Genetics

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile

(2013) L. Santa María et al.   CLINICAL GENETICS

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: A postzygotic retraction event

(2013) Susana Isabel Ferreira et al.   GENE

Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country

(2013) Maitane Barasoain et al.   GENE

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

(2013) Anna Murray et al.   GENETICS IN MEDICINE

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

(2013) Chiara Pastori et al.   HUMAN GENETICS

The Mismatch Repair Protein MSH2 is Rate Limiting for Repeat Expansion in a Fragile X Premutation Mouse Model

(2013) Rachel Adihe Lokanga et al.   HUMAN MUTATION

Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

(2013) Xiao-Nan Zhao et al.   HUMAN MUTATION

Correlation betweenFMR1expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation

(2013) Wen Huang et al.   JOURNAL OF MEDICAL GENETICS

Multiple interaction partners for Cockayne syndrome proteins: Implications for genome and transcriptome maintenance

(2013) Maria D. Aamann et al.   MECHANISMS OF AGEING AND DEVELOPMENT

R Loops Are Linked to Histone H3 S10 Phosphorylation and Chromatin Condensation

(2013) Maikel Castellano-Pozo et al.   MOLECULAR CELL

The DNA Replication Program Is Altered at the FMR1 Locus in Fragile X Embryonic Stem Cells

(2013) Jeannine Gerhardt et al.   MOLECULAR CELL

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

R-loop formation atSnord116mediates topotecan inhibition ofUbe3a-antisenseand allele-specific chromatin decondensation

(2013) Weston T. Powell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

R-Loop Stabilization Represses Antisense Transcription at the Arabidopsis FLC Locus

(2013) Q. Sun et al.   SCIENCE

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Role of CTCF Protein in Regulating FMR1 Locus Transcription

(2013) Stella Lanni et al.   PLoS Genetics

MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

(2013) Stéphanie Tomé et al.   PLoS Genetics

The Intronic Long Noncoding RNA ANRASSF1 Recruits PRC2 to the RASSF1A Promoter, Reducing the Expression of RASSF1A and Increasing Cell Proliferation

(2013) Felipe C. Beckedorff et al.   PLoS Genetics

Intranuclear inclusions in a fragile X mosaic male

(2013) Dalyir I Pretto et al.   Translational Neurodegeneration

Fear-Specific Amygdala Function in Children and Adolescents on the Fragile X Spectrum: A Dosage Response of the FMR1 Gene

(2012) S.-Y. Kim et al.   CEREBRAL CORTEX

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

(2012) Y Liu et al.   CLINICAL GENETICS

Fragile X Syndrome

(2012) Yingratana McLennan et al.   CURRENT GENOMICS

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

(2012) Carolyn M. Yrigollen et al.   GENETICS IN MEDICINE

Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice

(2012) L. Mollersen et al.   HUMAN MOLECULAR GENETICS

Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

(2012) Rachel Adihe Lokanga et al.   HUMAN MUTATION

The association of CGG repeats in the FMR1 gene and timing of natural menopause

(2012) M. Voorhuis et al.   HUMAN REPRODUCTION

Role of Mismatch Repair Enzymes in GAA·TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells

(2012) Jintang Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion in Human Cells

(2012) Anasheh Halabi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nucleotide excision repair–initiating proteins bind to oxidative DNA lesions in vivo

(2012) Hervé Menoni et al.   JOURNAL OF CELL BIOLOGY

A transcription factor–based mechanism for mouse heterochromatin formation

(2012) Aydan Bulut-Karslioglu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Ers1 links HP1 to RNAi

(2012) M. Rougemaille et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve

(2012) Lisa M. Pastore et al.   Reproductive Sciences

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

(2011) D Z Loesch et al.   CLINICAL GENETICS

Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency

(2011) Bunpei Ishizuka et al.   FERTILITY AND STERILITY

R-loop-mediated genomic instability is caused by impairment of replication fork progression

(2011) W. Gan et al.   GENES & DEVELOPMENT

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

(2011) Weerasak Chonchaiya et al.   HUMAN GENETICS

Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function

(2011) C. B. Karimov et al.   HUMAN REPRODUCTION

FMR1 gray-zone alleles: Association with Parkinson's disease in women?

(2011) Deborah A. Hall et al.   MOVEMENT DISORDERS

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers

(2011) Deborah Hall et al.   MOVEMENT DISORDERS

Fragile X analysis of 1112 prenatal samples from 1991 to 2010

(2011) Sarah L. Nolin et al.   PRENATAL DIAGNOSIS

Conformational trapping of Mismatch Recognition Complex MSH2/MSH3 on repair-resistant DNA loops

(2011) W. H. Lang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FMR1 and the Continuum of Primary Ovarian Insufficiency

(2011) Shannon Sullivan et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome

(2011) Pauline Chabosseau et al.   Nature Communications

AGG Interruptions in (CGG)nDNA Repeat Tracts Modulate the Structure and Thermodynamics of Non-B Conformations in Vitro

(2010) Daniel A. Jarem et al.   BIOCHEMISTRY

“Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile-X families

(2010) Danuta Z. Loesch et al.   CLINICAL GENETICS

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome

(2010) D. Kumari et al.   HUMAN MOLECULAR GENETICS

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

(2010) Ali Entezam et al.   HUMAN MUTATION

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure

(2010) C. E. Bennett et al.   HUMAN REPRODUCTION

Short RNAs Are Transcribed from Repressed Polycomb Target Genes and Interact with Polycomb Repressive Complex-2

(2010) Aditi Kanhere et al.   MOLECULAR CELL

Fragile X: Leading the way for targeted treatments in autism

(2010) Lulu W. Wang et al.   Neurotherapeutics

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

GC-Rich Sequence Elements Recruit PRC2 in Mammalian ES Cells

(2010) Eric M. Mendenhall et al.   PLoS Genetics

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms

(2009) Danuta Z. Loesch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X prenatal analyses show full mutation females at high risk for mosaic Turner syndrome: Fragile X leads to chromosome loss

(2009) Carl Dobkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

(2009) Laia Rodriguez-Revenga et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Bifunctional Intronic Element Regulates the Expression of the Arginine/Lysine TransporterCat-1via Mechanisms Involving the Purine-rich Element Binding Protein A (Purα)

(2009) Charlie C. Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cockayne Syndrome Group B Protein Stimulates Repair of Formamidopyrimidines by NEIL1 DNA Glycosylase

(2009) Meltem Muftuoglu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility

(2009) Irina Voineagu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

(2009) A. Entezam et al.   NUCLEIC ACIDS RESEARCH

Expanded clinical phenotype of women with theFMR1 premutation

(2008) Sarah M. Coffey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): Comparison with Alzheimer's disease

(2008) Andreea L. Seritan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Quadruplex-forming properties of FRAXA (CGG) repeats interrupted by (AGG) triplets

(2008) Daniel Renčiuk et al.   BIOCHIMIE

Epigenetic Therapeutic Strategies for the Treatment of Neuropsychiatric Disorders

(2008) Stephen I. Deutsch et al.   CLINICAL NEUROPHARMACOLOGY

DNA methylation in ES cells requires the lysine methyltransferase G9a but not its catalytic activity

(2008) Kevin B Dong et al.   EMBO JOURNAL

G9a/GLP complexes independently mediate H3K9 and DNA methylation to silence transcription

(2008) Makoto Tachibana et al.   EMBO JOURNAL

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

(2008) Elisabetta Tabolacci et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

(2008) Isabelle Streuli et al.   FERTILITY AND STERILITY

The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases

(2008) K. Usdin   GENOME RESEARCH

Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study

(2008) J. Rohr et al.   HUMAN REPRODUCTION

Testing for Fragile X Gene Mutations Throughout the Life Span

(2008) Randi J. Hagerman   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

(2008) Gül Dölen et al.   JOURNAL OF PHYSIOLOGY-LONDON

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

(2008) Maria-Isabel Tejada et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

De novo DNA methylation promoted by G9a prevents reprogramming of embryonically silenced genes

(2008) Silvina Epsztejn-Litman et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

SIRT1 Inhibition Alleviates Gene Silencing in Fragile X Mental Retardation Syndrome

(2008) Rea Biacsi et al.   PLoS Genetics

Human chromosome fragility

(2007) T. Lukusa et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms