Cargando…

Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range

Historically, investigations of FMR1 have focused almost exclusively on the clinical effects of CGG expansion within the categories of the premutation (55–200 CGG repeats) and fragile X syndrome (>200 CGG repeats). However, emerging evidence suggests that CGG-dependent phenotypes may occur across...

Descripción completa

Detalles Bibliográficos
Autores principales:	Klusek, Jessica, Porter, Anna, Abbeduto, Leonard, Adayev, Tatyana, Tassone, Flora, Mailick, Marsha R., Glicksman, Anne, Tonnsen, Bridgette L., Roberts, Jane E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6118037/ https://www.ncbi.nlm.nih.gov/pubmed/30197656 http://dx.doi.org/10.3389/fgene.2018.00344

Ejemplares similares

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety
por: Klusek, Jessica, et al.
Publicado: (2017)

Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
por: Klusek, Jessica, et al.
Publicado: (2022)

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
por: Nolin, Sarah L., et al.
Publicado: (2019)

Low-normal FMR1 CGG repeat length: phenotypic associations
por: Mailick, Marsha R., et al.
Publicado: (2014)

The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles
por: Yrigollen, Carolyn M., et al.
Publicado: (2011)

Associated features in females with an FMR1 premutation
por: Wheeler, Anne C, et al.
Publicado: (2014)

Developmental profiles of infants with an FMR1 premutation
por: Wheeler, Anne C., et al.
Publicado: (2016)

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence
por: Klusek, Jessica, et al.
Publicado: (2017)

Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education
por: Hong, Jinkuk, et al.
Publicado: (2023)

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
por: Giulivi, Cecilia, et al.
Publicado: (2016)

FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress
por: Mailick, Marsha R., et al.
Publicado: (2020)

Developmental aspects of FXAND in a man with the FMR1 premutation
por: Santos, Ellery, et al.
Publicado: (2020)

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
por: Tassone, Flora, et al.
Publicado: (2023)

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
por: Napoli, Eleonora, et al.
Publicado: (2018)

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers
por: Loesch, Danuta Z., et al.
Publicado: (2018)

Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation
por: Protic, Dragana, et al.
Publicado: (2023)

Clinical implications of somatic allele expansion in female FMR1 premutation carriers
por: Aishworiya, Ramkumar, et al.
Publicado: (2023)

Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample
por: Movaghar, Arezoo, et al.
Publicado: (2019)

Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults
por: Hong, Jinkuk, et al.
Publicado: (2021)

Elevated FMR1-mRNA and lowered FMRP – A double-hit mechanism for psychiatric features in men with FMR1 premutations
por: Schneider, Andrea, et al.
Publicado: (2020)

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles(†)
por: Tassone, Flora, et al.
Publicado: (2011)

Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation
por: Wang, Jun Yi, et al.
Publicado: (2020)

Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome
por: Chonchaiya, Weerasak, et al.
Publicado: (2010)

Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
por: Hocking, Darren R., et al.
Publicado: (2021)

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene
por: Napoli, Eleonora, et al.
Publicado: (2020)

Neuropsychological changes in FMR1 premutation carriers and onset of fragile X-associated tremor/ataxia syndrome
por: Famula, Jessica, et al.
Publicado: (2022)

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
por: Tassone, Flora, et al.
Publicado: (2012)

A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS
por: Narcisa, Vivien, et al.
Publicado: (2011)

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome
por: Mailick, Marsha R., et al.
Publicado: (2018)

Immune Dysregulation as a Cause of Autoinflammation in Fragile X Premutation Carriers: Link between FMRI CGG Repeat Number and Decreased Cytokine Responses
por: Careaga, Milo, et al.
Publicado: (2014)

Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation
por: Hocking, Darren R., et al.
Publicado: (2019)

Sensory Difficulties in Children With an FMR1 Premutation
por: Raspa, Melissa, et al.
Publicado: (2018)

Metabolic Alterations in FMR1 Premutation Carriers
por: Cao, Yiqu, et al.
Publicado: (2020)

Presence of Middle Cerebellar Peduncle Sign in FMR1 Premutation Carriers Without Tremor and Ataxia
por: Famula, Jessica L., et al.
Publicado: (2018)

Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task
por: Goodrich-Hunsaker, Naomi J., et al.
Publicado: (2011)

Male Carriers of the FMR1 Premutation Show Altered Hippocampal-Prefrontal Function During Memory Encoding
por: Wang, John M., et al.
Publicado: (2012)

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation
por: Hwang, Ye Hyun, et al.
Publicado: (2022)

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission
por: Yrigollen, Carolyn M, et al.
Publicado: (2014)

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation
por: Grigsby, Jim, et al.
Publicado: (2014)

Fragile X Premutation
por: Tassone, Flora, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_6a0dnj3heqoajv4gtc8btn3g5u