Fibroblast phenotype in male carriers of FMR1 premutation alleles (Q33552176)

28 July 2017

Fibroblast phenotype in male carriers of FMR1 premutation alleles (English)

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28 July 2017

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Christopher G Goetz

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28 July 2017

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Randi J Hagerman

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28 July 2017

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Flora Tassone

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28 July 2017

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Paul J Hagerman

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28 July 2017

Elizabeth Berry-Kravis

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object named as

Elizabeth M Berry-Kravis

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28 July 2017

Dolores Garcia-Arocena

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28 July 2017

Jane E Yang

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28 July 2017

Judith R Brouwer

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28 July 2017

Christine Iwahashi

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28 July 2017

Allison M Sumis

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28 July 2017

Lili Zhou

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28 July 2017

Danh V Nguyen

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28 July 2017

Luis Campos

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28 July 2017

Erin Howell

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28 July 2017

Anna Ludwig

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Claudia Greco

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28 July 2017

Rob Willemsen

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28 July 2017

language of work or name

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28 October 2009

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28 July 2017

Human Molecular Genetics

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28 July 2017

299-312

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describes a project that uses

28 July 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2796892/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

A review of fragile X premutation disorders: expanding the psychiatric perspective

21 June 2018

1 reference

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

21 June 2018

1 reference

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The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

21 June 2018

1 reference

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Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome

21 June 2018

1 reference

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The fragile X continuum: new advances and perspectives

21 June 2018

1 reference

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ABBA regulates plasma-membrane and actin dynamics to promote radial glia extension

21 June 2018

1 reference

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Genes, plasticity and mental retardation.

21 June 2018

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Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

The FMR1 premutation and reproduction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Cell signaling pathways to alphaB-crystallin following stresses of the cytoskeleton

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Coupling of the nucleus and cytoplasm: role of the LINC complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Dysfunction of lamin A triggers a DNA damage response and cellular senescence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Nuclear envelope, nuclear lamina, and inherited disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Disruption of the MAP1B-related protein FUTSCH leads to changes in the neuronal cytoskeleton, axonal transport defects, and progressive neurodegeneration in Drosophila

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

The nuclear lamina comes of age.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Association of FMR1 repeat size with ovarian dysfunction.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

The fragile-X premutation: a maturing perspective

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Actin cytoskeleton and small heat shock proteins: how do they interact?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Role of ANC-1 in tethering nuclei to the actin cytoskeleton.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Pathologic correlates of nondemented aging, mild cognitive impairment, and early-stage Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Transcription of the FMR1 gene in individuals with fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Lamins and apoptosis: a two-way street?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Chaperones in cell cycle regulation and mitogenic signal transduction: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Small heat shock proteins, the cytoskeleton, and inclusion body formation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

AlphaB-crystallin interacts with intermediate filaments in response to stress

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Synthesis and accumulation of alphaB crystallin in C6 glioma cells is induced by agents that promote the disassembly of microtubules.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene

21 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Clinical features of boys with fragile X premutations and intermediate alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Amygdala dysfunction in men with the fragile X premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Age-dependent cognitive changes in carriers of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

A neuropsychological investigation of male premutation carriers of fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Mood and anxiety disorders in females with the FMR1 premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Expanded clinical phenotype of women with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Neuropathic features in fragile X premutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Protein composition of the intranuclear inclusions of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Evidence for HSP-mediated cytoskeletal stabilization in mesothelial cells during acute experimental peritoneal dialysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Cytoskeletal changes during neurogenesis in cultures of avian neural crest cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

The emerging fragile X premutation phenotype: evidence from the domain of social cognition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP497

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796892

Small heat shock protein Hsp27 prevents heat-induced aggregation of F-actin by forming soluble complexes with denatured actin

31 October 2018

1 reference

12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts

1 reference

12 December 2020

Tremor and ataxia in fragile X premutation carriers: Blinded videotape study

1 reference

12 December 2020

Variation of heat shock protein 70 through the cell cycle in HL-60 cells and its relationship to apoptosis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP497

1 reference

28 July 2017

1 reference

28 July 2017

1 reference