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 …

FOXP2 as a molecular window into speech and language

SE Fisher, C Scharff - Trends in Genetics, 2009 - cell.com
Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome
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 …

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 …

[HTML][HTML] A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice

W Enard, S Gehre, K Hammerschmidt, SM Hölter… - Cell, 2009 - cell.com
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 …

Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain

SC Vernes, PL Oliver, E Spiteri, HE Lockstone… - PLoS …, 2011 - journals.plos.org
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 …

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 …

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 …

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

FF Hamdan, H Daoud, D Rochefort, A Piton… - The American Journal of …, 2010 - cell.com
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
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

SC Vernes, E Spiteri, J Nicod, M Groszer… - The American Journal of …, 2007 - cell.com
We previously discovered that mutations of the human FOXP2 gene cause a monogenic
communication disorder, primarily characterized by difficulties in learning to make …