Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
Abu Dhabi, United Arab Emirates. In Am J Med Genet A, Nov 2015
Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.
Mechanisms regulating GABAergic neuron development.
Heidelberg, Germany. In Cell Mol Life Sci, 2014
By comparing the molecular regulation of these events across CNS, we broadly identify three regions utilizing distinct molecular toolkits for GABAergic fate determination: telencephalon-anterior diencephalon (DLX2 type), posterior diencephalon-midbrain (GATA2 type) and hindbrain-spinal cord (PTF1A and TAL1 types).
Cerebellar development and disease.
Chicago, United States. In Curr Opin Neurobiol, 2008
Mouse studies elucidating the role of Ptf1a as a cerebellar ventricular zone GABerigic fate switch were actually preceded by the recognition that PTF1A mutations in humans cause cerebellar agenesis, a birth defect of the human cerebellum.
Characterization of Kras-mediated pancreatic tumorigenesis in zebrafish.
Baltimore, United States. In Methods Enzymol, 2007
In order to examine the earliest in vivo effects of oncogenic Kras expression in the exocrine pancreas, we generated two lines of zebrafish expressing eGFP alone or eGFP fused to human Kras with an activating mutation in codon 12 (Kras G12V) driven by ptf1a regulatory elements using a BAC recombineering strategy (Park et al., 2008).