Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diverse Epigenetic Mechanisms of Human Disease

(2014) Emily Brookes et al.   Annual Review of Genetics

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

(2014) Thainá Fernandez Gonçalves et al.   European Journal of Medical Genetics

Intellectual disability and autism spectrum disorders: Causal genes and molecular mechanisms

(2014) Anand K. Srivastava et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation

(2013) Matthew R. Stump et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Methamphetamine-Associated Memory Is Regulated by a Writer and an Eraser of Permissive Histone Methylation

(2013) Argel Aguilar-Valles et al.   BIOLOGICAL PSYCHIATRY

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

(2013) Daria Grafodatskaya et al.   BMC Medical Genomics

The autoimmune basis of narcolepsy

(2013) Josh Mahlios et al.   CURRENT OPINION IN NEUROBIOLOGY

Molecular Mechanisms of Disease-Causing Missense Mutations

(2013) Shannon Stefl et al.   JOURNAL OF MOLECULAR BIOLOGY

The G2/M Regulator Histone Demethylase PHF8 Is Targeted for Degradation by the Anaphase-Promoting Complex Containing CDC20

(2013) H.-J. Lim et al.   MOLECULAR AND CELLULAR BIOLOGY

Targeting H3K4 trimethylation in Huntington disease

(2013) M. Vashishtha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX

(2012) Loredana Poeta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polycomb Associates Genome-wide with a Specific RNA Polymerase II Variant, and Regulates Metabolic Genes in ESCs

(2012) Emily Brookes et al.   Cell Stem Cell

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

(2012) Katrin Õunap et al.   European Journal of Medical Genetics

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of the Human Endogenous Coregulator Complexome

(2011) Anna Malovannaya et al.   CELL

Loss of the Methyl Lysine Effector Protein PHF20 Impacts the Expression of Genes Regulated by the Lysine Acetyltransferase MOF

(2011) Aimee I. Badeaux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

JmjN interacts with JmjC to ensure selective proteolysis of Gis1 by the proteasome

(2011) Z. Quan et al.   MICROBIOLOGY-SGM

Tracking epigenetic histone modifications in single cells using Fab-based live endogenous modification labeling

(2011) Yoko Hayashi-Takanaka et al.   NUCLEIC ACIDS RESEARCH

The JmjN Domain of Jhd2 Is Important for Its Protein Stability, and the Plant Homeodomain (PHD) Finger Mediates Its Chromatin Association Independent of H3K4 Methylation

(2010) Fu Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Histone H3K36 Methyltransferase MES-4 Acts Epigenetically to Transmit the Memory of Germline Gene Expression to Progeny

(2010) Andreas Rechtsteiner et al.   PLoS Genetics

Identification of non-histone substrates for JMJD2A–C histone demethylases

(2009) V.K. Chaithanya Ponnaluri et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

(2009) Sinitdhorn Rujirabanjerd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

(2009) Tod Fullston et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DMDexon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6

(2009) Olga L. Gurvich et al.   HUMAN MUTATION

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Regulation of NF- B by NSD1/FBXL11-dependent reversible lysine methylation of p65

(2009) T. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel mutation inJARID1C/SMCX in a patient with autism spectrum disorder (ASD)

(2008) Abidemi Adegbola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Organization of Histone H3 Modifications as Revealed by a Panel of Specific Monoclonal Antibodies

(2008) Hiroshi Kimura et al.   CELL STRUCTURE AND FUNCTION