POLAND


Maciej T. Malecki, MD, PhD

Jagiellonian University Medical College (JUMC)
Department of Metabolic Diseases
Kopernika 15, 31501, Krakow
Phone: +48-12-4248300


Clinical and Basic Research

Monogenic diabetes (neonatal diabetes, MODY, LMNA-mutation related diabetes), polygenic diabetes (studies on the role of FTO genotype on BMI in polycystic ovary syndrome).


Equipment and facilities

We have access to a 200 m2 laboratory that is organized up to the highest standards and divided into separate spaces – genomics (pre-amp and post-amp) and proteomics. We also possess all the equipment necessary for the molecular genetic protocols including Illumina Hi Scan SQ System, which is a powerful platform for microarray and next generation genotyping. We also possess all the equipment needed for sample preparation – a spectrofluorymeter for DNA quantity control, Tape Station for DNA quality control, Hybridization Oven, rockers, water baths, dessicators, centrifuges, mulitsampleres, Hybridization Chambers etc).


Publications

  • Wojciechowski P, Lipowska A, Rys P, Ewens KG, Franks S, Tan S, Lerchbaum E, Vcelak J, Attaoua R, Straczkowski M, Azziz R, Barber TM, Hinney A, Obermayer-Pietsch B, Lukasova P, Bendlova B, Grigorescu F, Kowalska I, Goodarzi MO; GIANT Consortium, Strauss JF 3rd, McCarthy MI, Malecki MT. Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis. Diabetologia. 2012 Oct;55(10):2636-45.
  • Gaal Z, Klupa T, Kantor I, Mlynarski W, Albert L, Tolloczko J, Balogh I, Czajkowski K, Malecki MT. Sulfonylurea use during entire pregnancy in diabetes because of KCNJ11 mutation: a report of two cases. Diabetes Care. 2012 Jun;35 (6):e40.
  • Kowalska I, Adamska A, Malecki MT, Karczewska-Kupczewska M, Nikolajuk A, Szopa M, Gorska M, Straczkowski M. Impact of the FTO gene variation on fat oxidation and its potential influence on body weight in women with polycystic ovary syndrome. Clin Endocrinol (Oxf). 2012 Jul;77(1):120-5.
  • Cyganek K, Koblik T, Kozek E, Wojcik M, Starzyk J, Malecki MT. Liraglutide therapy in Prader-Willi syndrome. Diabet Med. 2011 Jun;28(6):755-6.
  • Klupa T, Szopa M, Skupien J, Wojtyczek K, Cyganek K, Kowalska I, Malecki MT. LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype. Endocrine. 2009 Dec;36(3): 518-23.
  • Szopa M, Malczewska-Malec M, Kiec-Wilk B, Skupien J, Wolkow P, Malecki MT, Sieradzki J. Variants of the adiponectin gene and type 2 diabetes in a Polish population. Acta Diabetol. 2009 Dec;46(4):317-22.
  •  Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, Malecki MT. Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62.
  • Klupa T, Skupień J, Gorczynska-Kosiorz S, Wanic K, Kusnierz-Cabala B, Solnica B, Sieradzki J, Malecki MT. Pancreatic exocrine insufficiency is not common in HNF-1alpha MODY. Diabet Med. 2008 May;25(5):627-30.
  • Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol. 2007 Nov;3(11):640-5.
  • Malecki MT, Skupien J, Klupa T, Wanic K, Mlynarski W, Gach A, Solecka I, Sieradzki J.Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating mutations: evidence for improvement in insulin sensitivity. Diabetes Care. 2007 Jan;30(1):147-9.

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