Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

(2012) Patrícia BS Celestino-Soper et al.   Molecular Cytogenetics

Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder

(2012) Paula S Ramos et al.   Molecular Autism

Jarid2 regulates mouse epidermal stem cell activation and differentiation

(2011) Stefania Mejetta et al.   EMBO JOURNAL

Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway

(2011) Xin Tong et al.   EMBO REPORTS

Latent class model with familial dependence to address heterogeneity in complex diseases: adapting the approach to family-based association studies

(2011) Alexandre Bureau et al.   GENETIC EPIDEMIOLOGY

Jarid2 (Jumonji, AT Rich Interactive Domain 2) RegulatesNOTCH1Expression via Histone Modification in the Developing Heart

(2011) Matthew R. Mysliwiec et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathogenesis of Focal Segmental Glomerular Sclerosis in a Girl with the Partial Deletion of Chromosome 6p

(2011) Akane Izu et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: Evidence from a large collaborative study totaling 4,963 Subjects

(2010) Thais S. Rizzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Meta-Analysis of Genetic Variation in DTNBP1 and General Cognitive Ability

(2010) Jian-Ping Zhang et al.   BIOLOGICAL PSYCHIATRY

Dysbindin, Syncoilin, and β-Synemin mRNA Levels in Dystrophic Muscles

(2010) Yoshihiro Wakayama et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells

(2010) Diego Pasini et al.   NATURE

PRC2 Complexes with JARID2, MTF2, and esPRC2p48 in ES Cells to Modulate ES Cell Pluripotency and Somatic Cell Reprograming

(2010) Zhuo Zhang et al.   STEM CELLS

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Jarid2/Jumonji Coordinates Control of PRC2 Enzymatic Activity and Target Gene Occupancy in Pluripotent Cells

(2009) Jamy C. Peng et al.   CELL

Jumonji Modulates Polycomb Activity and Self-Renewal versus Differentiation of Stem Cells

(2009) Xiaohua Shen et al.   CELL

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities

(2009) Anna Bremer et al.   European Journal of Medical Genetics

TRIM32 is an E3 ubiquitin ligase for dysbindin

(2009) Matthew Locke et al.   HUMAN MOLECULAR GENETICS

Interstitial deletion 6p22.3-p24.3 characterized by CGH array in a foetus with multiple malformations

(2009) C. Colmant et al.   PRENATAL DIAGNOSIS

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

(2007) Derek W. Morris et al.   BIOLOGICAL PSYCHIATRY