Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.W308*
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FOXG1

NM_005249.5:p.W308*

Associated Papers

AAV-mediated neuronal expression of FOXG1 restores oligodendrocyte maturation, myelination, and hippocampal structure in mouse models of FOXG1 syndrome.

Park J et al.

Biorxiv : the Preprint Server for Biology, 2025

Human patient-specific FOXG1 syndrome mouse model revealed FOXG1-MYCN-mediated regulation of protein homeostasis in neurodevelopmental disorder.

Jeon S et al.

Biorxiv : the Preprint Server for Biology, 2025

Foxg1 bimodally tunes L1-mRNA and -DNA dynamics in the developing murine neocortex.

Liuzzi G et al.

Development (cambridge, England), 2024

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Bjerregaard VA et al.

Genes, 2023

FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.

Hettige NC et al.

Stem Cell Reports, 2022

Multidimensional Functional Profiling of Human Neuropathogenic FOXG1 Alleles in Primary Cultures of Murine Pallial Precursors.

Frisari S et al.

International Journal of Molecular Sciences, 2022

Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.

Lu G et al.

Frontiers in Molecular Neuroscience, 2022

Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.

Jang HN et al.

Medicine, 2021

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

Fryssira H et al.

Molecular Cytogenetics, 2016

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

De Filippis R et al.

Clinical Genetics, 2012

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

Florian C et al.

Molecular Syndromology, 2012

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N et al.

Molecular Syndromology, 2011

[FOXG1, a new gene responsible for the congenital form of Rett syndrome].

Roche-Martinez A et al.

Revista De Neurologia, 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T et al.

Neurogenetics, 2011

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

Philippe C et al.

Journal of Medical Genetics, 2010

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.

Niu Y et al.

Annals of Saudi Medicine, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."