NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

(2015) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The biology of innate lymphoid cells

(2015) David Artis et al.   NATURE

CCL20 mediates lipopolysaccharide induced liver injury and is a potential driver of inflammation and fibrosis in alcoholic hepatitis

(2014) Silvia Affò et al.   GUT

Soluble Interleukin-6 Receptor-Mediated Innate Immune Response to DNA and RNA Viruses

(2013) Q. Wang et al.   JOURNAL OF VIROLOGY

DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans

(2013) Dasa Longman et al.   NUCLEIC ACIDS RESEARCH

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

(2011) E. C. M. CRANENBURG et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

(2011) Yi Shi et al.   PLoS Genetics

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

(2010) R. Jane Evans et al.   HUMAN MOLECULAR GENETICS

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

(2010) N. Maksimova et al.   JOURNAL OF MEDICAL GENETICS

Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport

(2009) Takehiro Aoki et al.   MOLECULAR BIOLOGY OF THE CELL