Prospective investigation of FOXP1 syndrome-Reference-Cited by-同舟云学术

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Prospective investigation of FOXP1 syndrome

Published:2017-10-24 Issue:1 Volume:8 Page:
ISSN:2040-2392
Container-title:Molecular Autism
language:en
Short-container-title:Molecular Autism

Author:

Siper Paige M.,De Rubeis Silvia,Trelles Maria del Pilar,Durkin Allison,Di Marino Daniele,Muratet François,Frank Yitzchak,Lozano Reymundo,Eichler Evan E.,Kelly Morgan,Beighley Jennifer,Gerdts Jennifer,Wallace Arianne S.,Mefford Heather C.,Bernier Raphael A.,Kolevzon Alexander,Buxbaum Joseph D.

Funder

Beatrice and Samuel A. Seaver Foundation

Private Philanthropy

National Institute of Mental Health

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Developmental Biology,Developmental Neuroscience,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13229-017-0172-6.pdf

Reference68 articles.

1. Hamdan FF, Daoud H, Rochefort D, Piton A, Gauthier J, Langlois M, Foomani G, Dobrzeniecka S, Krebs MO, Joober R, et al. De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet. 2010;87:671–8.

2. Horn D, Kapeller J, Rivera-Brugues N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, et al. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat. 2010;31:E1851–60.

3. Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, et al. FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A. 2013;161A:3166–75.

4. Lozano R, Vino A, Lozano C, Fisher SE, Deriziotis P. A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. Eur J Hum Genet. 2015;23:1702–7.

5. Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, et al. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Hum Mol Genet. 2016;25:546–57.

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1. Association of concomitant congenital diaphragmatic hernia and Hirschsprung's disease with a mutation in the FOXP1 gene: A case report;Journal of Pediatric Surgery Case Reports;2024-07

2. Cell type specific roles of FOXP1 during early neocortical murine development;2024-06-08

3. FOXP1 regulates the development of excitatory synaptic inputs onto striatal neurons and induces phenotypic reversal with reinstatement;Science Advances;2024-05-03

4. Auditory discrimination learning and acoustic cue weighing in female zebra finches with localized FoxP1 knockdowns;Journal of Neurophysiology;2024-05-01

5. Compensation between FOXP transcription factors maintains proper striatal function;Cell Reports;2024-05

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