@article{MTMT:34827412, title = {Congenitalis aniridia – szemészeti és szisztémás spektrum betegség}, url = {https://m2.mtmt.hu/api/publication/34827412}, author = {Csidey, Mária and Náray, Annamária and Kéki-Kovács, Klaudia and Németh, Orsolya and Knézy, Krisztina and Bausz, Mária and Szigeti, Andrea and Csorba, Anita and Kormányos, Kitti and Szabó, Dorottya and Tory, Kálmán and Nagy, Zoltán Zsolt and Maka, Erika and Szentmáry, Nóra}, journal-iso = {GYERMEKGYÓGYÁSZAT}, journal = {GYERMEKGYÓGYÁSZAT}, volume = {75}, unique-id = {34827412}, issn = {0017-5900}, year = {2024}, pages = {108-112}, orcid-numbers = {Tory, Kálmán/0000-0002-0316-6212; Maka, Erika/0000-0002-3631-3506} } @article{MTMT:34771203, title = {Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling}, url = {https://m2.mtmt.hu/api/publication/34771203}, author = {Gosselink, M.E. and Snoek, R. and Cerkauskaite-Kerpauskiene, A. and van, Bakel S.P.J. and Vollenberg, R. and Groen, H. and Cerkauskiene, R. and Miglinas, M. and Attini, R. and Tory, Kálmán and Claes, K.J. and van, Calsteren K. and Servais, A. and de, Jong M.F.C. and Gillion, V. and Vogt, L. and Mastrangelo, A. and Furlano, M. and Torra, R. and Bramham, K. and Wiles, K. and Ralston, E.R. and Hall, M. and Liu, L. and Hladunewich, M.A. and Lely, A.T. and van, Eerde A.M.}, doi = {10.1016/j.kint.2024.01.034}, journal-iso = {KIDNEY INT}, journal = {KIDNEY INTERNATIONAL}, volume = {105}, unique-id = {34771203}, issn = {0085-2538}, year = {2024}, eissn = {1523-1755}, pages = {1088-1099}, orcid-numbers = {Tory, Kálmán/0000-0002-0316-6212} } @article{MTMT:34747219, title = {Throwing off the keratin chains: a potential therapy for hereditary podocytopathy}, url = {https://m2.mtmt.hu/api/publication/34747219}, author = {Tory, Kálmán}, doi = {10.1016/j.kint.2024.01.029}, journal-iso = {KIDNEY INT}, journal = {KIDNEY INTERNATIONAL}, volume = {105}, unique-id = {34747219}, issn = {0085-2538}, year = {2024}, eissn = {1523-1755}, pages = {663-665}, orcid-numbers = {Tory, Kálmán/0000-0002-0316-6212} } @article{MTMT:34724035, title = {Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy.}, url = {https://m2.mtmt.hu/api/publication/34724035}, author = {Csorba, Anita and Kormányos, Kitti and Csidey, Mária and Náray, Annamária and Kovács, Klaudia and Németh, Orsolya and Knézy, Krisztina and Bausz, Mária and Szigeti, Andrea and Szabó, Dorottya and Corton, Marta and Tory, Kálmán and Nagy, Zoltán Zsolt and Langenbucher, Achim and Maka, Erika and Szentmáry, Nóra}, doi = {10.1080/02713683.2024.2320779}, journal-iso = {CURR EYE RES}, journal = {CURRENT EYE RESEARCH}, volume = {In press}, unique-id = {34724035}, issn = {0271-3683}, abstract = {During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal laser scanning microscopy CLSM.31 eyes of 18 patients (55.6% males, mean age: 25.22 ± 16.35 years) with congenital aniridia and 46 eyes of 29 healthy subjects (41.4% males, mean age 30 ± 14.82 years) were examined using the Rostock Cornea Module of Heidelberg Retina Tomograph-III. At the subbasal nerve plexus, corneal nerve fiber density (CNFD), corneal nerve fiber length (CNFL), corneal total branch density (CTBD), and corneal nerve fiber width (CNFW) were analyzed using ACCMetrics software. Keratocyte density in the anterior, middle and posterior stroma was assessed manually.The CNFD (2.02 ± 4.08 vs 13.99 ± 6.34/mm2), CNFL (5.78 ± 2.68 vs 10.56 ± 2.82 mm/mm2) and CTBD (15.08 ± 15.62 vs 27.44 ± 15.05/mm2) were significantly lower in congenital aniridia subjects than in controls (p < 0.001 for all). CNFW was significantly higher in aniridia subjects than in controls (0.03 ± 0.004 vs 0.02 ± 0.003 mm/mm2) (p = 0.003). Keratocyte density was significantly lower in all stromal layers of aniridia subjects than in controls (p < 0.001 for all). Stromal alterations included confluent keratocytes, keratocytes with long extensions and hyperreflective dots between keratocytes in aniridia.Decrease in CNFD, CNFL, and CTBD, as well as increase in CNFW well refer to the congenital aniridia-associated neuropathy. The decreased keratocyte density and the stromal alterations may be related to an increased cell death in congenital aniridia, nevertheless, stromal changes in different stages of AAK have to be further analyzed in detail.}, keywords = {Corneal Stroma; subbasal nerve plexus; Aniridia-associated keratopathy; congenital aniridia; in vivo confocal laser scanning microscopy}, year = {2024}, eissn = {1460-2202}, pages = {1-9}, orcid-numbers = {Csorba, Anita/0000-0002-3256-9440; Csidey, Mária/0000-0003-1542-6592; Kovács, Klaudia/0000-0002-1801-2347; Szigeti, Andrea/0000-0002-7420-6867; Tory, Kálmán/0000-0002-0316-6212; Nagy, Zoltán Zsolt/0000-0002-7330-0464; Langenbucher, Achim/0000-0001-9175-6177; Maka, Erika/0000-0002-3631-3506; Szentmáry, Nóra/0000-0001-8019-1481} } @article{MTMT:34573098, title = {Tumorigenic role of tacrolimus through mTORC1/C2 activation in post-transplant renal cell carcinomas}, url = {https://m2.mtmt.hu/api/publication/34573098}, author = {Moldvai, Dorottya and Sztankovics, Dániel and Dankó, Titanilla and Vetlényi, Enikő Judit and Petővári, Gábor and Márk, Ágnes and Patonai, Attila and Végső, Gyula and Piros, László and Hosszú, Ádám and Pápay, Judit and Krencz, Ildikó and Sebestyén, Anna}, doi = {10.1038/s41416-024-02597-8}, journal-iso = {BRIT J CANCER}, journal = {BRITISH JOURNAL OF CANCER}, volume = {130}, unique-id = {34573098}, issn = {0007-0920}, year = {2024}, eissn = {1532-1827}, pages = {1119-1130}, orcid-numbers = {Dankó, Titanilla/0000-0002-7419-4560; Vetlényi, Enikő Judit/0000-0003-4830-1032; Petővári, Gábor/0000-0002-1957-2864; Végső, Gyula/0000-0002-2887-9614; Piros, László/0000-0003-4841-220X; Hosszú, Ádám/0000-0002-8415-5637; Pápay, Judit/0000-0003-2642-2060; Krencz, Ildikó/0000-0003-3601-8723; Sebestyén, Anna/0000-0001-8814-4794} } @article{MTMT:34417580, title = {The dominant findings of a recessive man: from Mendel’s kid pea to kidney}, url = {https://m2.mtmt.hu/api/publication/34417580}, author = {Tory, Kálmán}, doi = {10.1007/s00467-023-06238-9}, journal-iso = {PEDIATR NEPHROL}, journal = {PEDIATRIC NEPHROLOGY}, volume = {in press}, unique-id = {34417580}, issn = {0931-041X}, abstract = {The research of Mendel, born two centuries ago, still has many direct implications for our everyday clinical work. He introduced the terms “dominant” and “recessive” characters and determined their 3:1 ratio in the offspring of heterozygous “hybrid” plants. This distribution allowed calculation of the number of the phenotype-determining “elements,” i.e., the alleles, and has been used ever since to prove the monogenic origin of a disorder. The Mendelian inheritance of monogenic kidney disorders is still of great help in distinguishing them from those with multifactorial origin in clinical practice. Inheritance of most monogenic kidney disorders fits to Mendel’s observations: the equal contribution of the two parents and the complete penetrance or the direct correlation between the frequency of the recessive character and the degree of inbreeding. Nevertheless, beyond the truth of these basic concepts, several observations have expanded their genetic characteristics. The extreme genetic heterogeneity, the pleiotropy of the causal genes and the role of modifiers in ciliopathies, the digenic inheritance and parental imprinting in some tubulopathies, and the incomplete penetrance and eventual interallelic interactions in podocytopathies, reflect this expansion. For all these reasons, the transmission pattern in a natural setting may depend not only on the “character” but also on the causal gene and the variant. Mendel’s passion for research combined with his modest personality and meticulous approach can still serve as an example in the work required to understand the non-Mendelian universe of genetics.}, year = {2024}, eissn = {1432-198X}, orcid-numbers = {Tory, Kálmán/0000-0002-0316-6212} } @article{MTMT:34392561, title = {Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1}, url = {https://m2.mtmt.hu/api/publication/34392561}, author = {Martin-Higueras, C. and Borghese, L. and Torres, A. and Fraga-Bilbao, F. and Santana-Estupiñán, R. and Stefanidis, C.J. and Tory, Kálmán and Walli, A. and Gondra, L. and Kempf, C. and Gessner, M. and Habbig, S. and Eifler, L. and Schmitt, C.P. and Rüdel, B. and Bartram, M.P. and Beck, B.B. and Hoppe, B.}, doi = {10.1016/j.ekir.2023.10.004}, journal-iso = {KIDNEY INT REP}, journal = {KIDNEY INTERNATIONAL REPORTS}, volume = {9}, unique-id = {34392561}, issn = {2468-0249}, year = {2024}, eissn = {2468-0249}, pages = {114-133}, orcid-numbers = {Tory, Kálmán/0000-0002-0316-6212} } @article{MTMT:34316300, title = {Alveolar cleft reconstruction utilizing a particulate autogenous tooth graft and a novel split-thickness papilla curtain flap — A retrospective study}, url = {https://m2.mtmt.hu/api/publication/34316300}, author = {Molnár, Bálint and Würsching, Tamás and Sólyom, Eleonóra and Pálvölgyi, Laura and Radóczy-Drajkó, Zsombor Kristóf and Palkovics, Dániel and Nagy, Krisztián}, doi = {10.1016/j.jcms.2023.10.006}, journal-iso = {J CRANIO MAXILL SURG}, journal = {JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY}, volume = {52}, unique-id = {34316300}, issn = {1010-5182}, year = {2024}, eissn = {1878-4119}, pages = {77-84}, orcid-numbers = {Molnár, Bálint/0000-0001-6307-4873; Würsching, Tamás/0000-0003-1939-0216; Sólyom, Eleonóra/0000-0002-4320-7605; Palkovics, Dániel/0000-0001-6398-1836; Nagy, Krisztián/0000-0002-6935-0995} } @{MTMT:34193298, title = {Koraszülöttek gyógyításának korszerű koncepciói}, url = {https://m2.mtmt.hu/api/publication/34193298}, author = {Nádor, Csaba}, booktitle = {Klinikai gyermekgyógyászat}, unique-id = {34193298}, year = {2024}, pages = {214-215}, orcid-numbers = {Nádor, Csaba/0000-0001-5293-361X} } @{MTMT:34193222, title = {Egészséges újszülöttekkel kapcsolatos teendők, szűrővizsgálatok}, url = {https://m2.mtmt.hu/api/publication/34193222}, author = {Nádor, Csaba}, booktitle = {Klinikai gyermekgyógyászat}, unique-id = {34193222}, year = {2024}, pages = {154-157}, orcid-numbers = {Nádor, Csaba/0000-0001-5293-361X} }