4.5 Article

341 Repeats Is Not Enough for Methylation in a New Fragile X Mouse Model

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。
Review Neurosciences

The molecular biology of FMRP: new insights into fragile X syndrome

Joel D. Richter et al.

Summary: Inactivation of the gene encoding fragile X mental retardation protein (FMRP) drives the impairments in brain development and function that underlie fragile X syndrome. Richter and Zhao illustrate how innovative genetic and molecular biology tools have enhanced our understanding of both FMRP's function and the causes of fragile X syndrome pathophysiology.

NATURE REVIEWS NEUROSCIENCE (2021)

Article Genetics & Heredity

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Cedrik Tekendo-Ngongang et al.

Summary: Various variants of the FMR1 gene have been shown to cause disease phenotypes, including splicing variants, missense variants, full deletions, nonsense variants, and frameshift variants. In addition, FMR1 deletions may not only occur in patients with mosaic full mutations, but also in patients with normal-sized CGG repeats, suggesting genomic instability in the CGG repeat region. Clinical tests for potential FMR1-related indications should include methods capable of detecting small coding, noncoding, and copy number variants.
Article Biochemistry & Molecular Biology

Efficient embryonic homozygous gene conversion via RAD51-enhanced interhomolog repair

Jonathan J. Wilde et al.

Summary: By studying the role of RAD51 in increasing Cas9-mediated homozygous knockin efficiency in mouse embryos, evidence for an endogenous IHR mechanism in early embryos was provided. This process can be utilized to generate homozygotes from wild-type zygotes using exogenous donors and convert heterozygous alleles into homozygous alleles.
Article Biochemistry & Molecular Biology

Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates

Saif N. Haify et al.

FRONTIERS IN MOLECULAR BIOSCIENCES (2020)

Letter Biochemical Research Methods

Moving beyond P values: data analysis with estimation graphics

Joses Ho et al.

NATURE METHODS (2019)

Article Biochemistry & Molecular Biology

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene

X. Shawn Liu et al.

Article Biochemistry & Molecular Biology

CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens

Jean-Paul Concordet et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Medicine, General & Internal

Fragile X syndrome

Randi J. Hagerman et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Article Medical Laboratory Technology

Validation of a robust PCR-based assay for quantifying fragile X CGG repeats

Yvonne K. Kwok et al.

CLINICA CHIMICA ACTA (2016)

Article Pathology

A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders

Bruce E. Hayward et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2016)

Article Pharmacology & Pharmacy

Metabotropic glutamate receptor 5 as drug target for Fragile X syndrome

Sebastian H. Scharf et al.

CURRENT OPINION IN PHARMACOLOGY (2015)

Article Biochemistry & Molecular Biology

Modeling psychiatric disorders for developing effective treatments

Tobias Kaiser et al.

NATURE MEDICINE (2015)

Article Biotechnology & Applied Microbiology

Cloning-free CRISPR/Cas system facilitates functional cassette knock-in in mice

Tomomi Aida et al.

GENOME BIOLOGY (2015)

Article Biochemistry & Molecular Biology

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size

Anna Lisa Ludwig et al.

HUMAN MOLECULAR GENETICS (2014)

Review Clinical Neurology

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Robert F. Berman et al.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2014)

Article Clinical Neurology

Emerging topics in FXTAS

Deborah A. Hall et al.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2014)

Article Biochemistry & Molecular Biology

From FMRP Function to Potential Therapies for Fragile X Syndrome

Ferzin Sethna et al.

NEUROCHEMICAL RESEARCH (2014)

Review Neurosciences

The challenges of clinical trials in fragile X syndrome

Sebastien Jacquemont et al.

PSYCHOPHARMACOLOGY (2014)

Review Genetics & Heredity

Fragile X Syndrome: From Protein Function to Therapy

Claudia Bagni et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Review Neurosciences

The translation of translational control by FMRP: therapeutic targets for FXS

Jennifer C. Darnell et al.

NATURE NEUROSCIENCE (2013)

Article Multidisciplinary Sciences

RNA-Guided Human Genome Engineering via Cas9

Prashant Mali et al.

SCIENCE (2013)

Review Biochemistry & Molecular Biology

Epigenetic modifications in trinucleotide repeat diseases

Marguerite V. Evans-Galea et al.

TRENDS IN MOLECULAR MEDICINE (2013)

Review Genetics & Heredity

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

Herbert A. Lubs et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Behavioral Sciences

Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task

Amanda A. Diep et al.

NEUROBIOLOGY OF LEARNING AND MEMORY (2012)

Review Genetics & Heredity

CGG repeat in the FMR1 gene: size matters

R. Willemsen et al.

CLINICAL GENETICS (2011)

Review Genetics & Heredity

Mechanisms of trinucleotide repeat instability during human development

Cynthia T. McMurray

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

Randi Hagerman et al.

MOLECULAR AUTISM (2010)

Review Biochemistry & Molecular Biology

Mutation Spectra in Fragile X Syndrome Induced by Deletions of CGG.CCG Repeats

Robert D. Wells

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Biochemistry & Molecular Biology

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

Judith R. Brouwer et al.

JOURNAL OF NEUROCHEMISTRY (2008)

Article Genetics & Heredity

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

SL Nolin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Multidisciplinary Sciences

Altered synaptic plasticity in a mouse model of fragile X mental retardation

KM Huber et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)

Article Biochemistry & Molecular Biology

Species-specific and isoform-specific RNA binding of human and mouse fragile X mental retardation proteins

RB Denman et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)

Review Genetics & Heredity

FMR1 and the fragile X syndrome:: Human genome epidemiology review

DC Crawford et al.

GENETICS IN MEDICINE (2001)

Article Biochemistry & Molecular Biology

Instability of a (CGG)98 repeat in the Fmr1 promoter

CJM Bontekoe et al.

HUMAN MOLECULAR GENETICS (2001)

Article Genetics & Heredity

Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome

F Tassone et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)