A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BioGPS and MyGene.info: organizing online, gene-centric information

(2012) Chunlei Wu et al.   NUCLEIC ACIDS RESEARCH

Receptor-Mediated Cellular Uptake Mechanism That Couples to Intracellular Storage

(2011) Riki Kawaguchi et al.   ACS Chemical Biology

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

(2011) Alan F. Rope et al.   AMERICAN JOURNAL OF HUMAN GENETICS

N-α-Acetyltransferase 10 Protein Suppresses Cancer Cell Metastasis by Binding PIX Proteins and Inhibiting Cdc42/Rac1 Activity

(2011) Kuo-Tai Hua et al.   CANCER CELL

Peptide Mimic Isolated by Autoantibody Reveals Human Arrest Defective 1 Overexpression Is Associated with Poor Prognosis for Colon Cancer Patients

(2010) Beihai Jiang et al.   AMERICAN JOURNAL OF PATHOLOGY

Arrest Defective 1 Autoacetylation Is a Critical Step in Its Ability to Stimulate Cancer Cell Proliferation

(2010) Ji Hae Seo et al.   CANCER RESEARCH

hNaa10p contributes to tumorigenesis by facilitating DNMT1-mediated tumor suppressor gene silencing

(2010) Chung-Fan Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

The Chaperone-Like Protein HYPK Acts Together with NatA in Cotranslational N-Terminal Acetylation and Prevention of Huntingtin Aggregation

(2010) T. Arnesen et al.   MOLECULAR AND CELLULAR BIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Phosphorylation of ARD1 by IKKβ contributes to its destabilization and degradation

(2009) Hsu-Ping Kuo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

(2009) Tanya M Bardakjian et al.   BMC Medical Genetics

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

EMAGE mouse embryo spatial gene expression database: 2010 update

(2009) Lorna Richardson et al.   NUCLEIC ACIDS RESEARCH

Metabolic Basis of Visual Cycle Inhibition by Retinoid and Nonretinoid Compounds in the Vertebrate Retina

(2008) Marcin Golczak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An Essential Ligand-binding Domain in the Membrane Receptor for Retinol-binding Protein Revealed by Large-scale Mutagenesis and a Human Polymorphism

(2008) Riki Kawaguchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY