Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1

Overgrowth syndromes — clinical and molecular aspects and tumour risk

(2019) Frédéric Brioude et al.   Nature Reviews Endocrinology

Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling

(2019) Brett V. Johnson et al.   BIOLOGICAL PSYCHIATRY

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

(2019) Alison Foster et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The p75 neurotrophin receptor is required for the survival of neuronal progenitors and normal formation of the basal forebrain, striatum, thalamus and neocortex

(2019) Sonja Meier et al.   DEVELOPMENT

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

(2019) Daniel N. Weinberg et al.   NATURE

Further delineation of Malan syndrome

(2018) Manuela Priolo et al.   HUMAN MUTATION

The H3K36me2 Methyltransferase Nsd1 Demarcates PRC2-Mediated H3K27me2 and H3K27me3 Domains in Embryonic Stem Cells

(2018) Gundula Streubel et al.   MOLECULAR CELL

Granule neuron precursor cell proliferation is regulated by NFIX and intersectin 1 during postnatal cerebellar development

(2018) James Fraser et al.   Brain Structure & Function

Nuclear Factor One X in Development and Disease

(2018) Michael Piper et al.   TRENDS IN CELL BIOLOGY

Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome

(2018) Sabrina Oishi et al.   EBioMedicine

Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice

(2018) Tingting Zhang et al.   NEUROSCIENCE

Transcriptional regulation of intermediate progenitor cell generation during hippocampal development

(2016) Lachlan Harris et al.   DEVELOPMENT

Expansion of the lateral ventricles and ependymal deficits underlie the hydrocephalus evident in mice lacking the transcription factor NFIX

(2015) Diana Vidovic et al.   BRAIN RESEARCH

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

(2015) Mariam Almuriekhi et al.   Cell Reports

Reduced isolation-induced pup ultrasonic communication in mouse pups lacking brain serotonin

(2015) Valentina Mosienko et al.   Molecular Autism

NFIX Regulates Proliferation and Migration Within the Murine SVZ Neurogenic Niche

(2014) Yee Hsieh Evelyn Heng et al.   CEREBRAL CORTEX

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

(2014) Merel Klaassens et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterozygosity for Nuclear Factor One X Affects Hippocampal-Dependent Behaviour in Mice

(2013) Lachlan Harris et al.   PLoS One

A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case

(2012) Manuela Priolo et al.   GENE

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

(2012) Yuriko Yoneda et al.   JOURNAL OF HUMAN GENETICS

Comprehensive Analysis of Ultrasonic Vocalizations in a Mouse Model of Fragile X Syndrome Reveals Limited, Call Type Specific Deficits

(2012) Snigdha Roy et al.   PLoS One

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Assessment of Social Interaction Behaviors

(2011) Oksana Kaidanovich-Beilin et al.   Jove-Journal of Visualized Experiments

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism

(2010) D. M. Young et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

(2010) A. K. Lucio-Eterovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate

(2009) Yan Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY