Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Kristel, Klaassen"'
Autor:
Sara Stankovic, Andrijana Lazic, Marina Parezanovic, Milena Stevanovic, Sonja Pavlovic, Maja Stojiljkovic, Kristel Klaassen
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10019 (2024)
Phenylketonuria (PKU) is the most common inherited disorder of amino acid metabolism, characterized by high levels of phenylalanine (Phe) in the blood and brain, leading to cognitive impairment without treatment. Nevertheless, Phe-mediated brain dysf
Externí odkaz:
https://doaj.org/article/16c38c4ceaa4475c955e0656a62634c2
Autor:
Rada Miskovic, Jelena Ljubicic, Branka Bonaci-Nikolic, Ana Petkovic, Vladana Markovic, Ivan Rankovic, Jelena Djordjevic, Ana Stankovic, Kristel Klaassen, Sonja Pavlovic, Maja Stojanovic
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionPU.1-mutated agammaglobulinemia (PU.MA) represents a recently described autosomal-dominant form of agammaglobulinemia caused by mutation of the SPI1 gene. This gene codes for PU.1 pioneer transcription factor important for the maturation
Externí odkaz:
https://doaj.org/article/a0db55a5729a4b6194bf8b078893547f
Autor:
Vesna Spasovski, Marina Andjelkovic, Marina Parezanovic, Jovana Komazec, Milena Ugrin, Kristel Klaassen, Maja Stojiljkovic
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 11212 (2023)
Systemic sclerosis (SSc) is a complex autoimmune inflammatory disorder with multiple organ involvement. Skin changes present the hallmark of SSc and coincide with poor prognosis. Interstitial lung diseases (ILD) are the most widely reported complicat
Externí odkaz:
https://doaj.org/article/3999cbfb118e4ce9a16c0be8ece92a5c
Autor:
Tamara Drljaca, Branka Zukic, Vladimir Kovacevic, Branislava Gemovic, Kristel Klaassen-Ljubicic, Vladimir Perovic, Mladen Lazarevic, Sonja Pavlovic, Nevena Veljkovic
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompas
Externí odkaz:
https://doaj.org/article/1143f842e46d48db9e503681c2fcb86c
Autor:
Marina Andjelkovic, Anita Skakic, Milena Ugrin, Vesna Spasovski, Kristel Klaassen, Sonja Pavlovic, Maja Stojiljkovic
Publikováno v:
Life, Vol 12, Iss 9, p 1396 (2022)
Glycogen storage diseases (GSDs) are rare metabolic monogenic disorders characterized by an excessive accumulation of glycogen in the cell. However, monogenic disorders are not simple regarding genotype–phenotype correlation. Genes outside the majo
Externí odkaz:
https://doaj.org/article/2766184829b64a1280d95fe749804944
Autor:
Nikola Kotur, Anita Skakic, Kristel Klaassen, Vladimir Gasic, Branka Zukic, Vesna Skodric-Trifunovic, Mihailo Stjepanovic, Zorica Zivkovic, Olivera Ostojic, Goran Stevanovic, Lidija Lavadinovic, Sonja Pavlovic, Biljana Stankovic
Publikováno v:
Frontiers in Nutrition, Vol 8 (2021)
Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19. Here, we investiga
Externí odkaz:
https://doaj.org/article/d20cb2ed369948a69bb4df612f234d35
Autor:
Maja Stojiljkovic, Kristel Klaassen, Anita Skakic, Mirjana Kocova, Violeta Anastasovska, Sonja Pavlovic, Nikolina Zdraveska
Publikováno v:
Endocrine. 73:196-202
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroidogenesis with a broad spectrum of clinical presentations, ranging from the severe classical salt-wasting (SW) and simple-virilizing (SV) form, to the mild noncl
Autor:
Maja Stojiljkovic, Biljana Stankovic, Kristel Klaassen, Bojan Ristivojevic, Branka Zukic, Sonja Pavlovic, Vladimir Gasic, Nikola Kotur
Publikováno v:
Journal of Medical Biochemistry, Vol 39, Iss 4, Pp 488-499 (2020)
Journal of Medical Biochemistry (2020) 39(4):488-499
J Med Biochem
Journal of Medical Biochemistry (2020) 39(4):488-499
J Med Biochem
Since there are no certified therapeutics to treat COVID-19 patients, drug repurposing became important. With lack of time to test individual pharmacogenomics markers, population pharmacogenomics could be helpful in predicting a higher risk of develo
Autor:
Sonja Pavlovic, Maja Stojiljkovic, Maja Djordjevic, R. Drmanac, Kristel Klaassen, Bozica Kecman, Anita Skakic
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100822-(2021)
Phenylketonuria (PKU) is an inborn error of metabolism caused by variants in the phenylalanine hydroxylase (PAH) gene and it is characterized by excessively high levels of phenylalanine in body fluids. PKU is a paradigm for a genetic disease that can
Autor:
Kristel Klaassen, Natasa Tosic, Sonja Pavlovic, Maja Djordjevic, Maja Stojiljkovic, Anita Skakic, Marina Andjelkovic
Publikováno v:
Gene. 703:17-25
Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-te