Výsledky vyhledávání - "Marina, Andjelkovic"

Akademický článek

Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases

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

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Akademický článek

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.

Autor: Marina Andjelkovic, Predrag Minic, Misa Vreca, Maja Stojiljkovic, Anita Skakic, Aleksandar Sovtic, Milan Rodic, Vesna Skodric-Trifunovic, Nina Maric, Jelena Visekruna, Vesna Spasovski, Sonja Pavlovic

Publikováno v: PLoS ONE, Vol 13, Iss 10, p e0205422 (2018)

Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and

Externí odkaz: https://doaj.org/article/f47ad5f8a1b1426ba2720fed12148fde

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Genetic basis of otosclerosis

Autor: Branka Zukic, Jasmina Grubin, Marina Andjelkovic, Vladimir Gasic, Dragoslava Djeric, Sonja Pavlovic

Publikováno v: Srpski Arhiv za Celokupno Lekarstvo, Vol 148, Iss 9-10, Pp 621-625 (2020)

Introduction. Otosclerosis is a disorder of the bone labyrinth and stapes resulting in conductive hearing loss. The genetic basis of otosclerosis still remains unknown. We aimed at reporting a comprehensive review of up-to-date knowledge on genetic b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4fd86dd62f8767fcc709c928b06a3c
http://www.doiserbia.nb.rs/img/doi/0370-8179/2020/0370-81792000026Z.pdf

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Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Autor: Anita Skakic, Predrag Minic, Maja Stojiljkovic, Aleksandar Sovtic, Sonja Pavlovic, Nina Stevanovic, Marina Andjelkovic

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8821, p 8821 (2021)

Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8fa4ffa095bd05092c662a25f05d6f

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CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81655c17f208be574e880f01037d3ea1
https://doi.org/10.1016/j.gene.2019.04.002

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Impact of alterations in X-linked IRAK1gene and miR-146a on susceptibility and clinical manifestations in patients with systemic sclerosis

Autor: Marina Andjelkovic, Sonja Pavlovic, Misa Vreca, Ana Zekovic, Nemanja Damjanov, Natasa Tosic, Vesna Spasovski

Publikováno v: Immunology Letters. 204:1-8

Systemic sclerosis (SSc) is a heterogeneous multisystem autoimmune disease with unknown etiology. Numerous studies have indicated that the disease heterogeneity implies various genetic abnormalities. Considering that SSc is characterized by a strong

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebcc989d6da80b96e7958212898bd7c
https://doi.org/10.1016/j.imlet.2018.10.002

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