| 1 |
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
|
|
|
|
In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
|
|
BASE
|
|
Show details
|
|
|
| 2 |
The trans-ancestral genomic architecture of glycemic traits.
|
|
|
|
In: Nature genetics, vol. 53, no. 6, pp. 840-860 (2021)
|
|
BASE
|
|
Show details
|
|
|
| 3 |
Developmental regulation of canonical and small ORF translation from mRNAs
|
|
|
|
BASE
|
|
Show details
|
|
|
| 4 |
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
|
|
|
|
In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
|
|
BASE
|
|
Show details
|
|
|
| 5 |
Global genetic differentiation of complex traits shaped by natural selection in humans.
|
|
|
|
In: Nature communications, vol. 9, no. 1, pp. 1865 (2018)
|
|
BASE
|
|
Show details
|
|
|
| 6 |
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
|
|
|
|
In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
|
|
BASE
|
|
Show details
|
|
|
| 7 |
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.
|
|
|
|
In: Molecular psychiatry, vol 22, iss 3 (2017)
|
|
BASE
|
|
Show details
|
|
|
| 8 |
High-throughput assessment of small open reading frame translation in Drosophila melanogaster
|
|
|
|
BASE
|
|
Show details
|
|
|
| 9 |
A novel multi-alignment pipeline for high-throughput sequencing data.
|
|
|
|
In: Database : the journal of biological databases and curation, vol 2014, iss 0 (2014)
|
|
BASE
|
|
Show details
|
|
|
| 10 |
Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults
|
|
|
|
In: The Journal of Nutrition , 143 (5) 606 -612. (2013) (2013)
|
|
BASE
|
|
Show details
|
|
|
| 11 |
Individual common variants exert weak effects on the risk for autism spectrum disorders.
|
|
|
|
In: Human molecular genetics, vol 21, iss 21 (2012)
|
|
BASE
|
|
Show details
|
|
|
| 12 |
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
|
|
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef ; ORA review team (2012)
|
|
BASE
|
|
Show details
|
|
|
| 13 |
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
|
|
|
|
In: PLoS genetics, vol 7, iss 7 (2011)
|
|
BASE
|
|
Show details
|
|
|
| 14 |
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
|
|
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011)
|
|
BASE
|
|
Show details
|
|
|
| 15 |
Population-level neutral model already explains linguistic patterns.
|
|
|
|
In: Proc Biol Sci , 278 (1713) pp. 1770-1772. (2011) (2011)
|
|
BASE
|
|
Show details
|
|
|
| 16 |
Hemiplasy: a new term in the lexicon of phylogenetics.
|
|
|
|
In: Systematic biology, vol 57, iss 3 (2008)
|
|
BASE
|
|
Show details
|
|
|
| 17 |
Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.
|
|
Groszer, M; Keays, DA; Deacon, RM; de Bono, JP; Prasad-Mulcare, S; Gaub, S; Baum, MG; French, CA; Nicod, J; Coventry, JA; Enard, W; Fray, M; Brown, SD; Nolan, PM; Pääbo, S; Channon, KM; Costa, RM; Eilers, J; Ehret, G; Rawlins, JN; Fisher, SE
|
|
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008)
|
|
Abstract:
The most well-described example of an inherited speech and language disorder is that observed in the multigenerational KE family, caused by a heterozygous missense mutation in the FOXP2 gene. Affected individuals are characterized by deficits in the learning and production of complex orofacial motor sequences underlying fluent speech and display impaired linguistic processing for both spoken and written language. The FOXP2 transcription factor is highly similar in many vertebrate species, with conserved expression in neural circuits related to sensorimotor integration and motor learning. In this study, we generated mice carrying an identical point mutation to that of the KE family, yielding the equivalent arginine-to-histidine substitution in the Foxp2 DNA-binding domain. Homozygous R552H mice show severe reductions in cerebellar growth and postnatal weight gain but are able to produce complex innate ultrasonic vocalizations. Heterozygous R552H mice are overtly normal in brain structure and development. Crucially, although their baseline motor abilities appear to be identical to wild-type littermates, R552H heterozygotes display significant deficits in species-typical motor-skill learning, accompanied by abnormal synaptic plasticity in striatal and cerebellar neural circuits.
|
|
Keyword:
Alleles; Animal; Animals; Forkhead Transcription Factors; Heterozygote; Humans; Knockout; Learning; Mice; Motor Skills; Neuronal Plasticity; Point Mutation; Repressor Proteins; Speech Disorders; Vocalization
|
|
URL: https://doi.org/10.1016/j.cub.2008.01.060
|
|
BASE
|
|
Hide details
|
|
|
| 18 |
The co-evolution of culturally inherited altruistic helping and cultural transmission under random group formation.
|
|
|
|
In: Theoretical Population Biology, vol. 73, no. 4, pp. 506-516 (2008)
|
|
BASE
|
|
Show details
|
|
|
| 19 |
The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence
|
|
|
|
BASE
|
|
Show details
|
|
|
| 20 |
APOE ε2-ε4 genotype is a possible risk factor for primary progressive aphasia [6]
|
|
|
|
BASE
|
|
Show details
|
|
|
|
|
