Function of alternative splicing
O Kelemen, P Convertini, Z Zhang, Y Wen, M Shen… - Gene, 2013 - Elsevier
Almost all polymerase II transcripts undergo alternative pre-mRNA splicing. Here, we review
the functions of alternative splicing events that have been experimentally determined. The …
the functions of alternative splicing events that have been experimentally determined. The …
FOXP2 as a molecular window into speech and language
Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome
characterized by impaired speech development and linguistic deficits. Recent genomic …
characterized by impaired speech development and linguistic deficits. Recent genomic …
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …
A functional genetic link between distinct developmental language disorders
SC Vernes, DF Newbury, BS Abrahams… - … England Journal of …, 2008 - Mass Medical Soc
Background Rare mutations affecting the FOXP2 transcription factor cause a monogenic
speech and language disorder. We hypothesized that neural pathways downstream of …
speech and language disorder. We hypothesized that neural pathways downstream of …
[HTML][HTML] A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice
It has been proposed that two amino acid substitutions in the transcription factor FOXP2
have been positively selected during human evolution due to effects on aspects of speech …
have been positively selected during human evolution due to effects on aspects of speech …
Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain
Forkhead-box protein P2 is a transcription factor that has been associated with intriguing
aspects of cognitive function in humans, non-human mammals, and song-learning birds …
aspects of cognitive function in humans, non-human mammals, and song-learning birds …
Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain
E Spiteri, G Konopka, G Coppola, J Bomar… - The American Journal of …, 2007 - cell.com
Mutations in FOXP2, a member of the forkhead family of transcription factor genes, are the
only known cause of developmental speech and language disorders in humans. To date …
only known cause of developmental speech and language disorders in humans. To date …
Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits
M Groszer, DA Keays, RMJ Deacon, JP De Bono… - Current Biology, 2008 - cell.com
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 …
observed in the multigenerational KE family, caused by a heterozygous missense mutation …
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …
High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders
We previously discovered that mutations of the human FOXP2 gene cause a monogenic
communication disorder, primarily characterized by difficulties in learning to make …
communication disorder, primarily characterized by difficulties in learning to make …