Cargando…

The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity

BACKGROUND: The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating A...

Descripción completa

Detalles Bibliográficos
Autores principales:	Manor, Esther, Gonen, Raphael, Sarussi, Benjamin, Keidar‐Friedman, Danielle, Kumar, Jay, Tang, Hiu‐Tung, Tassone, Flora
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785435/ https://www.ncbi.nlm.nih.gov/pubmed/31453660 http://dx.doi.org/10.1002/mgg3.946

Ejemplares similares

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

Translation of the FMR1 mRNA is not influenced by AGG interruptions
por: Ludwig, Anna L., et al.
Publicado: (2009)

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

Effect of AGG Interruptions on FMR1 Maternal Transmissions
por: Villate, Olatz, et al.
Publicado: (2020)

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers
por: Domniz, Noam, et al.
Publicado: (2018)

Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype
por: Limprasert, Pornprot, et al.
Publicado: (2016)

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience
por: Ardui, Simon, et al.
Publicado: (2018)

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
por: Manor, Esther, et al.
Publicado: (2017)

FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
por: Zafarullah, Marwa, et al.
Publicado: (2020)

Clinical and molecular implications of mosaicism in FMR1 full mutations
por: Pretto, Dalyir, et al.
Publicado: (2014)

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
por: Latham, Gary J., et al.
Publicado: (2014)

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)

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

AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats
por: Volle, Catherine B, et al.
Publicado: (2013)

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation
por: Allen, Emily G., et al.
Publicado: (2018)

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

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)

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

Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome
por: Stöger, Reinhard, et al.
Publicado: (2011)

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

Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society
por: Teeuw, Marieke E, et al.
Publicado: (2014)

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
por: Napierala, Marek, et al.
Publicado: (2005)

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)

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

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

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)

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)

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

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)

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)

Recommendations of the AGG (Section Maternal Disease) for Myasthenia Gravis in Pregnancy
por: Kühnert, Maritta, et al.
Publicado: (2021)

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

Signaling Specificity Provided by the Arabidopsis thaliana Heterotrimeric G-Protein γ Subunits AGG1 and AGG2 Is Partially but Not Exclusively Provided through Transcriptional Regulation
por: Thung, Leena, et al.
Publicado: (2013)

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome
por: Hocking, Darren R., et al.
Publicado: (2022)

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

Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways
por: Storey, Elsdon, et al.
Publicado: (2021)

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

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

Cannot write session to /tmp/vufind_sessions/sess_un8kfr9pqgqtvldcahlcbq8ir0