Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Damjan Glavač"'
Publikováno v:
Biomedicines, Vol 12, Iss 11, p 2428 (2024)
Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by the loss of the survival motor neuron (SMN) protein, leading to degeneration of anterior motor neurons and resulting in progressive muscle weakness and atrophy. Given that
Externí odkaz:
https://doaj.org/article/eaaf01b85fa84707bf1a1f98ca34fc04
Autor:
Rok Šega, Jan Burgar, Ana Fakin, Sanja Petrović Pajić, Marija Volk, Marko Hawlina, Damjan Glavač, Martina Jarc-Vidmar
Publikováno v:
Zdravniški Vestnik, Vol 91, Iss 9-10, Pp 398-411 (2022)
Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogosteje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na eno oko, ki ji sledi poslabšanje vida drugega o
Externí odkaz:
https://doaj.org/article/e080871493b34bec8e4b962f8cdcfc1a
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Publikováno v:
Biomedicines, Vol 11, Iss 5, p 1316 (2023)
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and easy-to-obtain biomarkers are an absolute necessity
Externí odkaz:
https://doaj.org/article/1baca930541a416faf6acf008dfb9a11
Publikováno v:
Slavistična Revija, Vol 69, Iss 4 (2021)
V prispevku so predstavljeni termini v sopomenskih dvojicah in nizih v poimenovalnem sistemu z izhodiščnim terminom celica, ki je iztočnica v Slovenskem medicinskem slovarju. Številni pojmi so poimenovani z dvema ali več termini, ki se razlikuje
Externí odkaz:
https://doaj.org/article/0d12534c04f749419d7d7c1230a6e782
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
Abstract Background Colorectal cancer (CRC) is one of the leading causes of death by cancer worldwide and in need of novel potential diagnostic biomarkers for early discovery. Methods We conducted a two-step study. We first employed bioinformatics on
Externí odkaz:
https://doaj.org/article/deb3a94befd84dbb91eb68d154f72a7e
Autor:
Pierpaolo Maisano Delser, Metka Ravnik-Glavač, Paolo Gasparini, Damjan Glavač, Massimo Mezzavilla
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
The Slovenian territory played a crucial role in the past serving as gateway for several human migrations. Previous studies used Slovenians as a source population to interpret different demographic events happened in Europe but not much is known abou
Externí odkaz:
https://doaj.org/article/a726bc7d0f4c4c8a807bd0f94ab14c6a
Autor:
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies
Externí odkaz:
https://doaj.org/article/efdc7bba27ae465b871410d88af13b5f
Autor:
Xhevat Lumi, Mateja M. Jelen, Daša Jevšinek Skok, Emanuela Boštjančič, Metka Ravnik-Glavač, Marko Hawlina, Damjan Glavač
Publikováno v:
Journal of Ophthalmology, Vol 2018 (2018)
The present study investigated the distribution of genotypes within single nucleotide polymorphisms (SNPs) in genes, related to PVR pathogenesis across European subpopulations. Genotype distributions of 42 SNPs among 96 Slovenian healthy controls wer
Externí odkaz:
https://doaj.org/article/d14c7e28c529464ebb4ed801f7dbdd3e
Publikováno v:
International Journal of Genomics, Vol 2017 (2017)
Circular RNAs (circRNAs) are a class of noncoding RNAs (ncRNAs) that form covalently closed continuous loop structures, lacking the terminal 5′ and 3′ ends. CircRNAs are generated in the process of back-splicing and can originate from different g
Externí odkaz:
https://doaj.org/article/9dae56a472bf490d97e9a736f4bff332