Volume 62 (2016) No. 2
Original Article
Effect of Simvastatin, Coenzyme Q10, Resveratrol, Acetylcysteine and Acetylcarnitine on Mitochondrial Respiration
(mitochondria / simvastatin / coenzyme Q10 / resveratrol / acetylcysteine / acetylcarnitine)
Z. Fišar1, J. Hroudová1, N. Singh1, A. Kopřivová2, D. Macečková2
1Department of Psychiatry, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Department of Biology, Faculty of Science, University J. E. Purkyně in Ústí nad Labem, Czech Republic
Pages: 53 - 66 (PDF)
Corresponding author: Zdeněk Fišar, Department of Psychiatry, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 11, 120 00 Prague 2, Czech Republic, Phone: (+420) 224 965 313; e-mail: zfisar@lf1.cuni.cz
Original Article
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
(CDKL5 / cyclin-dependent kinase-like 5 protein / early-onset epileptic encephalopathy / early-onset seizure variant of Rett syndrome)
D. ZÁHORÁKOVÁ1, M. LANGOVÁ2, K. BROŽOVÁ3, J. LAŠTŮVKOVÁ4, Z. KALINA6, L. RENNEROVÁ5, P. MARTÁSEK1
1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
2Department of Clinical Genetics, 3Department of Child Neurology, Thomayer Hospital in Prague, Czech Republic
4Department of Medical Genetics, 5Department of Neonatology, KZ, a. s. – Masaryk Hospital in Ústí nad Labem, Czech Republic
6Department of Clinical Genetics, University Hospital in Brno, Czech Republic
Pages: 67 - 74 (PDF)
Corresponding author: Daniela Záhoráková, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Building E4, 128 08 Prague 2, Czech Republic. Phone: (+420) 224967758; Fax: (+420) 224967099; e-mail: daniela.zahorakova@lf1.cuni.cz
Original Article
TIMP4 Modulates ER-α Signalling in MCF7 Breast Cancer Cells
(TIMP4 / RNASeq / oestrogen receptor α / breast cancer)
F. PRUEFER1, K. VAZQUEZ-SANTILLAN2, L., MUÑOZ-GALINDO2, J. L. CRUZ-COLIN1, V. MALDONADO2, J. MELENDEZ-ZAJGLA1
1Functional Genomics Laboratory and 2Epigenetics Laboratory, Basic Research Subdirection. Instituto Nacional de Medicina Genómica. México City, Mexico
Pages: 75 - 81 (PDF)
Corresponding author: Jorge Melendez-Zajgla, Functional Genomics Laboratory, Basic Research Subdirection. Instituto Nacional de Medicina Genómica. Periferico Sur 4809, Arenal Tepepan, Tlalpan, 14610 México City, Mexico. Phone: (+52) 5553 501 920; e-mail: jmelendez@inmegen.gob.mx
Original Article
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
(mucopolysaccharidosis II / Hunter syndrome / iduronate sulphatase deficiency / X-chromosome inactivation / induced pluripotent stem cells)
M. ŘEBOUN1, J. RYBOVÁ1, R. DOBROVOLNÝ1, J. VČELÁK3, T. VESELKOVÁ1, G. ŠTORKÁNOVÁ1, D. MUŠÁLKOVÁ1, M. HŘEBÍČEK1, J. LEDVINOVÁ1, M. MAGNER2, J. ZEMAN2, K. PEŠKOVÁ1, L. DVOŘÁKOVÁ1
1Institute of Inherited Metabolic Disorders, 2Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic
3Institute of Endocrinology, Prague, Czech Republic
Pages: 82 - 89 (PDF)
Corresponding author: Lenka Dvořáková, Institute of Inherited Metabolic Disorders, Laboratory of DNA Diagnostics, bldg E1a, Ke Karlovu 455/2, 128 08 Prague 2, Czech Republic. Phone: (+ 420) 224 967 701; Fax: (+420) 224 967 168; e-mail: lenka.dvorakova@lf1.cuni.cz
Short Communication
Intracellular Delivery of Synthetic dsRNA to Leukemic Cells Induces Apoptotic and Necrotic Cell Death
(leukaemia / poly I:C / electroporation / apoptosis)
S. M. MAHMUD, K. J. MEK, A. IDRIS
PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Brunei Darussalam
Pages: 90 - 94 (PDF)
Corresponding author: Adi Idris, PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, JalanTungku Link Gadong, Brunei Darussalam, BE1410. Phone: (+673) 8987060; e-mail: yusri.idris@ubd.edu.bn
