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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5425

2022

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DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Biomolecules (Basel, Switzerland), 2021-02, Vol.11 (2), p.296

2021

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Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders

International journal of molecular sciences, 2024-03, Vol.25 (6), p.3421

2024

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.567-575

2020

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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

Human genetics, 2020-02, Vol.139 (2), p.227-245

2020

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The polyphenolic compound punicalagin protects skin fibroblasts from UVA radiation oxidative damage

Current research in pharmacology and drug discovery, 2024-01, Vol.6, p.100186, Article 100186

2024

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Remifentanil does not affect human microglial immune activation in response to pro-inflammatory cytokines

EXCLI journal, 2023, Vol.22, p.295-309

2023

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Rutin Protects Fibroblasts from UVA Radiation through Stimulation of Nrf2 Pathway

Antioxidants, 2023-03, Vol.12 (4), p.820

2023

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Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome

Genes, 2016-08, Vol.7 (8), p.49

2016

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RADX Gene Variant May Predispose to Familial Asperger Syndrome

Genes, 2023-01, Vol.14 (2), p.301

2023

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Role of CTCF protein in regulating FMR1 locus transcription

PLoS genetics, 2013-07, Vol.9 (7), p.e1003601-e1003601

2013

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DNA Methylation in the Diagnosis of Monogenic Diseases

Genes, 2020-03, Vol.11 (4), p.355

2020

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Genes, 2021-11, Vol.12 (12), p.1909

2021

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Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals

Cells (Basel, Switzerland), 2023-02, Vol.12 (5), p.758

2023

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Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Genes, 2022-06, Vol.13 (7), p.1161

2022

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Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Genes, 2020-02, Vol.11 (3), p.248

2020

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Molecular dissection of the events leading to inactivation of the FMR1 gene

Human molecular genetics, 2005-01, Vol.14 (2), p.267-277

2005

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Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1

PloS one, 2009-02, Vol.4 (2), p.e4434

2009

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The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception

Journal of neuroimmunology, 2020-12, Vol.349, p.577406-577406, Article 577406

2020

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Epigenetics, fragile X syndrome and transcriptional therapy

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2797-2808

2013

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The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

BMC medical genetics, 2012-03, Vol.13 (1), p.13-13, Article 13

2012

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Remifentanil-induced hyperalgesia in healthy volunteers: a systematic review and meta-analysis of randomized controlled trials

Pain (Amsterdam), 2024-05, Vol.165 (5), p.972-982

2024

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Mitochondrial disfunction in human fibroblasts from individuals with Fragile X related disorders

Biochimica et biophysica acta. Bioenergetics, 2022-09, Vol.1863, p.148875, Article 148875

2022

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Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

Movement disorders, 2007-02, Vol.22 (3), p.324-327

2007

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A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.482-487

2006

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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

The polyphenolic compound punicalagin protects skin fibroblasts from UVA radiation oxidative damage

Remifentanil does not affect human microglial immune activation in response to pro-inflammatory cytokines

Rutin Protects Fibroblasts from UVA Radiation through Stimulation of Nrf2 Pathway

Transcriptional Reactivation of the FMR1 Gene. A Possible Approach to the Treatment of the Fragile X Syndrome

RADX Gene Variant May Predispose to Familial Asperger Syndrome

Role of CTCF protein in regulating FMR1 locus transcription

DNA Methylation in the Diagnosis of Monogenic Diseases

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

Molecular dissection of the events leading to inactivation of the FMR1 gene

Tumorigenic potential of olfactory bulb-derived human adult neural stem cells associates with activation of TERT and NOTCH1

The emerging role of the BDNF-TrkB signaling pathway in the modulation of pain perception

Epigenetics, fragile X syndrome and transcriptional therapy

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

Remifentanil-induced hyperalgesia in healthy volunteers: a systematic review and meta-analysis of randomized controlled trials

Mitochondrial disfunction in human fibroblasts from individuals with Fragile X related disorders

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

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