Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Mandibulofacial dysostosis with microcephaly” caused byEFTUD2mutations: Expanding the phenotype

(2012) Daniela V. Luquetti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Methylation-Dependent Activation of CDX1 through NF-κB

(2012) Tilman T. Rau et al.   AMERICAN JOURNAL OF PATHOLOGY

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

(2012) Michael Bowman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

(2012) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Mammalian Neurogenesis Requires Treacle-Plk1 for Precise Control of Spindle Orientation, Mitotic Progression, and Maintenance of Neural Progenitor Cells

(2012) Daisuke Sakai et al.   PLoS Genetics

CaMKII is involved in cadmium activation of MAPK and mTOR pathways leading to neuronal cell death

(2011) Sujuan Chen et al.   JOURNAL OF NEUROCHEMISTRY

Properties of Contextual Memory Formed in the Absence of αCaMKII Autophosphorylation

(2011) Elaine E Irvine et al.   Molecular Brain

A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31–32 region and asthma

(2010) Jeong-Hyun Kim et al.   JOURNAL OF HUMAN GENETICS

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

Alpha-CaMKII deficiency causes immature dentate gyrus, a novel candidate endophenotype of psychiatric disorders

(2008) Nobuyuki Yamasaki et al.   Molecular Brain