Results 81 to 90 of about 19,426 (255)

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"? [PDF]

PLoS ONE, 2012
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer, Muy-Kheng Tea, David H Barad, Ann Kim, Christian F Singer, Klaus Wagner, Norbert Gleicher   +6 more
doaj   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders, EarlyView.
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen, Pilar Alvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker, Kamran Salayev, Sughra Guliyeva, Kimberley J. Billingsley, Henry Houlden, Andrew B. Singleton, Cornelis Blauwendraat, Sara Bandres‐Ciga, Rauan Kaiyrzhanov   +13 more
wiley   +1 more source

Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in Genetics, 2018
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation ...
Anne Edwards, Jacek Kolacz, Melissa Raspa, Anne Wheeler, Keri J. Heilman, Amanda Wylie, Stephen W. Porges, Stephen W. Porges   +7 more
openaire   +4 more sources

Multi‐omics analysis reveals discordant proteome and transcriptome responses in larval guts of Frankliniella occidentalis infected with an orthotospovirus

Insect Molecular Biology, EarlyView.
Tomato spotted wilt virus modulated the abundance of gut proteins in larval thrips, most notably manifested as a predominant down‐regulation in first instar larvae. Gut‐expressed protein and cognate transcript abundance were moderately correlated across the tissue system; however, the virus effect varied widely at transcriptional and translational ...
Jinlong Han, Dorith Rotenberg
wiley   +1 more source

Psychiatric‐onset neuronal intranuclear inclusion disease in a psychiatry‐based dementia‐enriched cohort in Japan

Psychiatry and Clinical Neurosciences, EarlyView.
Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto, Kohji Mori, Shoshin Akamine, Shizuko Kondo, Shiho Gotoh, Ryota Uozumi, Sumiyo Umeda, Hanako Koguchi‐Yoshioka, Satoshi Nojima, Daiki Taomoto, Yuto Satake, Takashi Suehiro, Hideki Kanemoto, Kenji Yoshiyama, Takashi Morihara, Manabu Ikeda   +15 more
wiley   +1 more source

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes [PDF]

European Journal of Human Genetics, 2011
During the last few years, several studies have reported an excess of intermediate FMR1 alleles in patients with cognitive and/or behavioural phenotypes. Here, we report the frequency of intermediate alleles (IAs) in three pathologies, intellectual disabilities (IDs), attention-deficit/hyperactivity disorder and autism, from different Spanish regions ...
Madrigal, Irene, Xunclà, Mar, Tejada, María Isabel, Martínez, Francisco, Fernández Carvajal, M. Isabel, Pérez-Jurado, Luis Alberto, Rodríguez-Revenga, Laia, Milà, Montserrat   +7 more
openaire   +5 more sources

Role of CTCF protein in regulating FMR1 locus transcription.

PLoS Genetics, 2013
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri   +9 more
doaj   +1 more source

Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions

PLoS ONE, 2019
Fragile X syndrome, the leading heritable form of intellectual disability, is caused by hypermethylation and transcriptional silencing of large (CGG) repeat expansions (> 200 repeats) in the 5′ untranslated region of the fragile X mental retardation 1 ...
Kyoungmi Kim, D. Hessl, J. Randol, G. Espinal, A. Schneider, D. Protic, E. Y. Aydin, R. Hagerman, P. Hagerman   +8 more
semanticscholar   +1 more source

Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This study is the first to report clinical and paraclinical profiles of autism spectrum disorder (ASD) in Algeria, as well as the prenatal, perinatal and postnatal factors. Findings were similar to other countries. The study highlights the need for increased awareness and training to improve early recognition of ASD in Algeria. ABSTRACT Autism spectrum
Ourida Loumi, Christian R. Andres
wiley   +1 more source