Zobrazeno 1 - 10
of 34
pro vyhledávání: '"L Leja"'
Autor:
Dominika Oziębło, Marcin L. Leja, Michal Lazniewski, Anna Sarosiak, Grażyna Tacikowska, Krzysztof Kochanek, Dariusz Plewczynski, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked wi
Externí odkaz:
https://doaj.org/article/d17fac3e3c4a4413a34c33aa3fb78490
Autor:
Dominika Oziębło, Marcin L. Leja, Aldona Jeznach, Magdalena Orzechowska, Tomasz Skirecki, Ewa Więsik-Szewczyk, Mariusz Furmanek, Natalia Bałdyga, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The NLRP3 gene mutations are the cause of autosomal dominant autoinflammatory disorders (NLRP3-AID). Recently, hearing loss (HL) has been found to be the sole or major manifestation of NLRP3-AID. Here, we tested 110 autosomal dominant HL families wit
Externí odkaz:
https://doaj.org/article/060c1f0a74764af0865408e9be4f4718
Publikováno v:
Archives of Medical Science, Vol 20, Iss 3, Pp 962-966 (2020)
Introduction Otosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to
Externí odkaz:
https://doaj.org/article/648a1f6f595d47b2864d71cfec28f691
Autor:
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal do
Externí odkaz:
https://doaj.org/article/17da04a1ee254f68b28f3cc9c56e9868
Autor:
Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 335
Volume 14
Issue 2
Pages: 335
The most frequently observed congenital inner ear malformation is enlarged vestibular aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea and a dilated vestibule, which together constitute Mondini malformatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141ebdd807d0809c06675480ebe737b8
https://doi.org/10.3390/genes14020335
https://doi.org/10.3390/genes14020335
Autor:
Monika Ołdak, Marcin L. Leja, Dariusz Plewczynski, Krzysztof Kochanek, Grażyna Tacikowska, Michal Lazniewski, Anna Sarosiak, Henryk Skarżyński, Dominika Oziębło
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked with postli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3bbaa94ad40e0ba05aa33323dc2a1d
https://pubmed.ncbi.nlm.nih.gov/33986365
https://pubmed.ncbi.nlm.nih.gov/33986365
Publikováno v:
Archives of Medical Science.
IntroductionOtosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90a8e9e27fe97367cb579ea0c699a716
https://doi.org/10.5114/aoms.2020.99011
https://doi.org/10.5114/aoms.2020.99011
Autor:
Danylo Kaminskyy, Roman Lesyk, Marcin L. Leja, Jan Gmiński, Konrad A. Szychowski, Tadeusz Pomianek, Jakub Tobiasz, Maciej Wnuk, Anna Kryshchyshyn
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)
4-thiazolidinones, which are privileged structures in medicinal chemistry, comprise the well-known class of heterocycles and are a source of new drug-like compounds. Undoubtedly, the 5-bulky-substituted-2,4-thiazolidinediones - a class of antihypergl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9f8be6e9f60f7d11e201b368525ada
https://doi.org/10.1038/s41598-019-47177-6
https://doi.org/10.1038/s41598-019-47177-6
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Autor:
Peter Nürnberg, Monika Ołdak, Nataliya Di Donato, Dominika Oziębło, Grażyna Tacikowska, Hanno J. Bolz, Marcin L. Leja, Henryk Skarżyński, Birgit Budde, Anna Sarosiak
Publikováno v:
Journal of Translational Medicine
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78725470d1370dcc54c1f2901281e89b
https://pubmed.ncbi.nlm.nih.gov/31655630
https://pubmed.ncbi.nlm.nih.gov/31655630