Various clinical presentations of uveitis associated with durvalumab treatment

Autor: Vrabic Nika, Fakin Ana, Mekjavic Polona Jaki, Janzic Urska, Vrankar Martina, Valentincic Natasa Vidovic

Publikováno v: Radiology and Oncology, Vol 56, Iss 2, Pp 129-137 (2022)

Immune checkpoint inhibitors (ICI) are becoming increasingly common in treating several cancer types. Durvalumab is a human IgG1 monoclonal antibody that blocks PD-L1 binding to PD-1 and CD80 and has recently been approved for the treatment of extens

Externí odkaz: https://doaj.org/article/b5f1b501f3db484290adbf2d28d2845e

Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia.

Autor: Petrovic Pajic, Sanja^1,2 (AUTHOR) dr_sanja_petrovic@hotmail.com, Fakin, Ana^1,3 (AUTHOR) ana.fakin@gmail.com, Sustar Habjan, Maja¹ (AUTHOR) sustar.majchi@gmail.com, Jarc-Vidmar, Martina^1,3 (AUTHOR) martina.jarcvidmar@gmail.com, Hawlina, Marko^1,3 (AUTHOR) marko.hawlina@gmail.com

Publikováno v: Journal of Clinical Medicine. Oct2023, Vol. 12 Issue 20, p6669. 11p.

A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation

Autor: Bollati, Michela ^a, Diomede, Luisa ^b, Giorgino, Toni ^a, Natale, Carmina ^b, Fagnani, Elisa ^a, Boniardi, Irene ^a, Barbiroli, Alberto ^c, Alemani, Rebecca ^a, Beeg, Marten ^b, Gobbi, Marco ^b, Fakin, Ana ^d, Mastrangelo, Eloise ^a, Milani, Mario ^a, Presciuttini, Gianluca ^e, Gabellieri, Edi ^e, Cioni, Patrizia ^e, de Rosa, Matteo ^{a, ⁎}

Publikováno v: In Computational and Structural Biotechnology Journal 2021 19:6355-6365

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Autor: Khan, Mubeen ^{1, 2}, Cornelis, Stéphanie S. ^{1, 2}, De Pozo-Valero, Marta l ^{1, 3}, Whelan, Laura ⁴, Runhart, Esmee H. ^{2, 5}, Mishra, Ketan ^{1, 2}, Bults, Femke ¹, AlSwaiti, Yahya ⁶, AlTalbishi, Alaa ⁶, De Baere, Elfride ⁷, Banfi, Sandro ⁸, Banin, Eyal ⁹, Bauwens, Miriam ⁷, Ben-Yosef, Tamar ¹⁰, Boon, Camiel J.F. ^{11, 12}, van den Born, L. Ingeborgh ^{13, 14}, Defoort, Sabine ¹⁵, Devos, Aurore ¹⁶, Dockery, Adrian ⁴, Dudakova, Lubica ¹⁷, Fakin, Ana ¹⁸, Farrar, G. Jane ⁴, Sallum, Juliana Maria Ferraz ^{19, 20}, Fujinami, Kaoru ^{21, 22, 23, 24}, Gilissen, Christian ^{1, 25}, Glavač, Damjan ²⁶, Gorin, Michael B. ^{27, 28}, Greenberg, Jacquie ²⁹, Hayashi, Takaaki ³⁰, Hettinga, Ymkje M. ³¹, Hoischen, Alexander ¹, Hoyng, Carel B. ^{2, 5}, Hufendiek, Karsten ³², Jägle, Herbert ³³, Kamakari, Smaragda ³⁴, Karali, Marianthi ⁸, Kellner, Ulrich ^{35, 36}, Klaver, Caroline C.W. ^{5, 37, 38}, Kousal, Bohdan ^{17, 39}, Lamey, Tina M. ^{40, 41}, MacDonald, Ian M. ⁴², Matynia, Anna ^{27, 28}, McLaren, Terri L. ^{40, 41}, Mena, Marcela D. ⁴³, Meunier, Isabelle ⁴⁴, Miller, Rianne ¹, Newman, Hadas ^{45, 46}, Ntozini, Buhle ²⁹, Oldak, Monika ⁴⁷, Pieterse, Marc ¹, Podhajcer, Osvaldo L. ⁴³, Puech, Bernard ¹⁵, Ramesar, Raj ²⁹, Rüther, Klaus ⁴⁸, Salameh, Manar ⁶, Salles, Mariana Vallim ^{19, 20}, Sharon, Dror ⁹, Simonelli, Francesca ⁴⁹, Spital, Georg ⁵⁰, Steehouwer, Marloes ¹, Szaflik, Jacek P. ⁵¹, Thompson, Jennifer A. ⁴¹, Thuillier, Caroline ⁵², Tracewska, Anna M. ⁵³, van Zweeden, Martine ¹, Vincent, Andrea L. ^{54, 55}, Zanlonghi, Xavier ⁵⁶, Liskova, Petra ^{17, 39}, Stöhr, Heidi ⁵⁷, De Roach, John N. ^{40, 41}, Ayuso, Carmen ³, Roberts, Lisa ²⁹, Weber, Bernhard H.F. ⁵⁷, Dhaenens, Claire‐Marie ^{1, 16}, Cremers, Frans P.M. ^{1, 2}

Publikováno v: In Genetics in Medicine July 2020 22(7):1235-1246

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Autor: Bauwens, Miriam ¹, Garanto, Alejandro ^{2, 3}, Sangermano, Riccardo ^{2, 4}, Naessens, Sarah ¹, Weisschuh, Nicole ⁵, De Zaeytijd, Julie ⁶, Khan, Mubeen ^{2, 3}, Sadler, Françoise ⁵, Balikova, Irina ⁶, Van Cauwenbergh, Caroline ^{1, 6}, Rosseel, Toon ¹, Bauwens, Jim ⁷, De Leeneer, Kim ¹, De Jaegere, Sarah ¹, Van Laethem, Thalia ¹, De Vries, Meindert ⁸, Carss, Keren ^{9, 10}, Arno, Gavin ¹¹, Fakin, Ana ^{11, 12}, Webster, Andrew R. ^{11, 12}, de Ravel de l’Argentière, Thomy J.L. ¹³, Sznajer, Yves ¹⁴, Vuylsteke, Marnik ¹⁵, Kohl, Susanne ⁵, Wissinger, Bernd ⁵, Cherry, Timothy ^{16, 17}, Collin, Rob W.J. ^{2, 3}, Cremers, Frans P.M. ^{2, 3}, Leroy, Bart P. ^{1, 6, 18}, De Baere, Elfride ¹

Publikováno v: In Genetics in Medicine August 2019 21(8):1761-1771