TY - JOUR AU - Csidey, Mária AU - Náray, Annamária AU - Kéki-Kovács, Klaudia AU - Németh, Orsolya AU - Knézy, Krisztina AU - Bausz, Mária AU - Szigeti, Andrea AU - Csorba, Anita AU - Kormányos, Kitti AU - Szabó, Dorottya AU - Tory, Kálmán AU - Nagy, Zoltán Zsolt AU - Maka, Erika AU - Szentmáry, Nóra TI - Congenitalis aniridia – szemészeti és szisztémás spektrum betegség JF - GYERMEKGYÓGYÁSZAT J2 - GYERMEKGYÓGYÁSZAT VL - 75 PY - 2024 IS - 2 SP - 108 EP - 112 PG - 5 SN - 0017-5900 UR - https://m2.mtmt.hu/api/publication/34827412 ID - 34827412 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Gosselink, M.E. AU - Snoek, R. AU - Cerkauskaite-Kerpauskiene, A. AU - van, Bakel S.P.J. AU - Vollenberg, R. AU - Groen, H. AU - Cerkauskiene, R. AU - Miglinas, M. AU - Attini, R. AU - Tory, Kálmán AU - Claes, K.J. AU - van, Calsteren K. AU - Servais, A. AU - de, Jong M.F.C. AU - Gillion, V. AU - Vogt, L. AU - Mastrangelo, A. AU - Furlano, M. AU - Torra, R. AU - Bramham, K. AU - Wiles, K. AU - Ralston, E.R. AU - Hall, M. AU - Liu, L. AU - Hladunewich, M.A. AU - Lely, A.T. AU - van, Eerde A.M. TI - Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling JF - KIDNEY INTERNATIONAL J2 - KIDNEY INT VL - 105 PY - 2024 IS - 5 SP - 1088 EP - 1099 PG - 12 SN - 0085-2538 DO - 10.1016/j.kint.2024.01.034 UR - https://m2.mtmt.hu/api/publication/34771203 ID - 34771203 LA - English DB - MTMT ER - TY - JOUR AU - Tory, Kálmán TI - Throwing off the keratin chains: a potential therapy for hereditary podocytopathy JF - KIDNEY INTERNATIONAL J2 - KIDNEY INT VL - 105 PY - 2024 IS - 4 SP - 663 EP - 665 PG - 3 SN - 0085-2538 DO - 10.1016/j.kint.2024.01.029 UR - https://m2.mtmt.hu/api/publication/34747219 ID - 34747219 N1 - Pediatric Center, Semmelweis University, Budapest, Hungary Hungarian Academy of Sciences – Semmelwies University (MTA-SE) Lendület Nephrogenetic Laboratory, Semmelweis University, Budapest, Hungary Export Date: 9 May 2024 CODEN: KDYIA Correspondence Address: Tory, K.; Semmelweis University, Bókay J. u. 53, Budapest, Hungary; email: tory.kalman@semmelweis.hu LA - English DB - MTMT ER - TY - JOUR AU - Csorba, Anita AU - Kormányos, Kitti AU - Csidey, Mária AU - Náray, Annamária AU - Kovács, Klaudia AU - Németh, Orsolya AU - Knézy, Krisztina AU - Bausz, Mária AU - Szigeti, Andrea AU - Szabó, Dorottya AU - Corton, Marta AU - Tory, Kálmán AU - Nagy, Zoltán Zsolt AU - Langenbucher, Achim AU - Maka, Erika AU - Szentmáry, Nóra TI - Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy. JF - CURRENT EYE RESEARCH J2 - CURR EYE RES VL - In press PY - 2024 SP - 1 EP - 9 PG - 9 SN - 0271-3683 DO - 10.1080/02713683.2024.2320779 UR - https://m2.mtmt.hu/api/publication/34724035 ID - 34724035 N1 - Department of Ophthalmology, Semmelweis University, Budapest, Hungary Heim Pál National Pediatric Institute, Budapest, Hungary Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Universität des Saarlandes - Campus Homburg, Homburg/Saar, Germany Department of Ophthalmology, Markusovszky University Teaching Hospital, Szombathely, Hungary Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary Experimental Ophthalmology, Saarland University, Homburg/Saar, Germany Export Date: 23 March 2024 CODEN: CEYRD Correspondence Address: Csorba, A.; Department of Ophthalmology, 1085 Mária utca 39, Hungary; email: csorba.anita@semmelweis-univ.hu AB - 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. LA - English DB - MTMT ER - TY - JOUR AU - Moldvai, Dorottya AU - Sztankovics, Dániel AU - Dankó, Titanilla AU - Vetlényi, Enikő Judit AU - Petővári, Gábor AU - Márk, Ágnes AU - Patonai, Attila AU - Végső, Gyula AU - Piros, László AU - Hosszú, Ádám AU - Pápay, Judit AU - Krencz, Ildikó AU - Sebestyén, Anna TI - Tumorigenic role of tacrolimus through mTORC1/C2 activation in post-transplant renal cell carcinomas JF - BRITISH JOURNAL OF CANCER J2 - BRIT J CANCER VL - 130 PY - 2024 IS - 7 SP - 1119 EP - 1130 PG - 12 SN - 0007-0920 DO - 10.1038/s41416-024-02597-8 UR - https://m2.mtmt.hu/api/publication/34573098 ID - 34573098 N1 - Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői út 26., Budapest, H-1085, Hungary Department of Surgery, Transplantation and Gastroenterology, Semmelweis University, Üllői út 78., Budapest, H-1082, Hungary Department of Paediatrics (Bókay street Unit), Semmelweis University, Üllői út. 26, Budapest, H-1085, Hungary MTA-SE Lendulet Diabetes Research Group, Bókay János utca 53-54., Budapest, H-1083, Hungary Export Date: 8 May 2024 CODEN: BJCAA Correspondence Address: Sebestyén, A.; Department of Pathology and Experimental Cancer Research, Üllői út 26., Hungary; email: sebestyen.anna@semmelweis.hu LA - English DB - MTMT ER - TY - JOUR AU - Tory, Kálmán TI - The dominant findings of a recessive man: from Mendel’s kid pea to kidney JF - PEDIATRIC NEPHROLOGY J2 - PEDIATR NEPHROL VL - in press PY - 2024 SN - 0931-041X DO - 10.1007/s00467-023-06238-9 UR - https://m2.mtmt.hu/api/publication/34417580 ID - 34417580 N1 - MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary Pediatric Center, MTA Center of Excellence, Semmelweis University, Budapest, Hungary Export Date: 12 January 2024 CODEN: PEDNE Correspondence Address: Tory, K.; Pediatric Center, Hungary; email: tory.kalman@med.semmelweis-univ.hu AB - 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. LA - English DB - MTMT ER - TY - JOUR AU - Martin-Higueras, C. AU - Borghese, L. AU - Torres, A. AU - Fraga-Bilbao, F. AU - Santana-Estupiñán, R. AU - Stefanidis, C.J. AU - Tory, Kálmán AU - Walli, A. AU - Gondra, L. AU - Kempf, C. AU - Gessner, M. AU - Habbig, S. AU - Eifler, L. AU - Schmitt, C.P. AU - Rüdel, B. AU - Bartram, M.P. AU - Beck, B.B. AU - Hoppe, B. TI - Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1 JF - KIDNEY INTERNATIONAL REPORTS J2 - KIDNEY INT REP VL - 9 PY - 2024 IS - 1 SP - 114 EP - 133 PG - 20 SN - 2468-0249 DO - 10.1016/j.ekir.2023.10.004 UR - https://m2.mtmt.hu/api/publication/34392561 ID - 34392561 LA - English DB - MTMT ER - TY - JOUR AU - Molnár, Bálint AU - Würsching, Tamás AU - Sólyom, Eleonóra AU - Pálvölgyi, Laura AU - Radóczy-Drajkó, Zsombor Kristóf AU - Palkovics, Dániel AU - Nagy, Krisztián TI - Alveolar cleft reconstruction utilizing a particulate autogenous tooth graft and a novel split-thickness papilla curtain flap — A retrospective study JF - JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY J2 - J CRANIO MAXILL SURG VL - 52 PY - 2024 IS - 1 SP - 77 EP - 84 PG - 8 SN - 1010-5182 DO - 10.1016/j.jcms.2023.10.006 UR - https://m2.mtmt.hu/api/publication/34316300 ID - 34316300 LA - English DB - MTMT ER - TY - CHAP AU - Nádor, Csaba ED - Tulassay, Tivadar TI - Koraszülöttek gyógyításának korszerű koncepciói T2 - Klinikai gyermekgyógyászat PB - Medicina Könyvkiadó CY - Budapest SN - 9789632286673 PY - 2024 SP - 214 EP - 215 PG - 2 UR - https://m2.mtmt.hu/api/publication/34193298 ID - 34193298 LA - Hungarian DB - MTMT ER - TY - CHAP AU - Nádor, Csaba ED - Tulassay, Tivadar TI - Egészséges újszülöttekkel kapcsolatos teendők, szűrővizsgálatok T2 - Klinikai gyermekgyógyászat PB - Medicina Könyvkiadó CY - Budapest SN - 9789632286673 PY - 2024 SP - 154 EP - 157 PG - 4 UR - https://m2.mtmt.hu/api/publication/34193222 ID - 34193222 LA - Hungarian DB - MTMT ER -