A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutationinexon2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome

porphyrazines bearing peripheral aza-18-crown-6 moieties

Metal-free and metalloporphyrazines bearing substituted aza-18-crown-6 moieties in peripheral positions were prepared and characterized by elemental analysis, IR, H-1 and C-13 NMR, UV-vis and MS spectral data. (c) 2007 Published by Elsevier Ltd

Novel 1,2,4-triazole substituted metallo-phthalocyanines: Synthesis, characterization and investigation of electrochemical and spectroelectrochemical properties

KOCA, ATIF/0000-0003-0141-5817; AKCAY, Hakki Turker/0000-0002-8502-9608WOS: 000446286200024The phthalonitrile compound (3) and peripherally tetra substituted zinc(II) (4), nickel (II) (5), iron (II) (6), cobalt (II) (7) and copper (II) (8) phthalocyanines were synthesized for the first time in this study. the structural characterization of these novel compounds were performed with FT-IR, H-1 NMR, C-13 NMR, UV-Vis and mass spectroscopy. the redox properties of the complexes were investigated by cyclic voltammetry, square wave voltammetry, controlled-potential coulometry and in-situ spectroelectrochemistry. the effects of redox active and inactive metal centers on the electrochemistry of 4-2-(4-methyl-5-phenyl-4H-1,2,4-triazol-3-ylthio)ethoxy substitute phthalocyanine were examined. the color changes associated with the redox processes and electro-generated anionic and cationic redox species were suggested their applicability in the fields of the electrochemical technologies. (C) 2018 Elsevier B.V. All rights reserved