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Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.
Kovács AL, Kárteszi J, Prohászka Z, Kalmár T, Késmárky G, Koltai K, Nagy Z, Sebők J, Vas T, Molnár K, Berki T, Böröcz K, Gyömörei C, Szalma J, Egyed M, Horváth S, Oláh P, Csuka D, Németh V, Gyulai R. Kovács AL, et al. Front Immunol. 2022 Sep 1;13:919411. doi: 10.3389/fimmu.2022.919411. eCollection 2022. Front Immunol. 2022. PMID: 36119109 Free PMC article.
Puffy hand syndrome.
Kovács AL, Rózsa A, Kálmán E, Gyömörei C, Schmidt E, Gyulai R. Kovács AL, et al. Eur J Dermatol. 2017 Aug 1;27(4):415-417. doi: 10.1684/ejd.2017.3028. Eur J Dermatol. 2017. PMID: 28572076 No abstract available.
Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
Kinyó Á, Kovács AL, Degrell P, Kálmán E, Nagy N, Kárpáti S, Gyulai R, Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J. Kinyó Á, et al. Among authors: kovacs al. J Invest Dermatol. 2021 Nov;141(11):2752-2756. doi: 10.1016/j.jid.2021.03.029. Epub 2021 May 21. J Invest Dermatol. 2021. PMID: 34023363 Free article. No abstract available.
HUNCHEST-II contributes to a shift to earlier-stage lung cancer detection: final results of a nationwide screening program.
Kerpel-Fronius A, Megyesfalvi Z, Markóczy Z, Solymosi D, Csányi P, Tisza J, Kecskés A, Baranyi B, Csánky E, Dóka A, Gálffy G, Göcző K, Győry C, Horváth Z, Juhász T, Kállai Á, Kincses ZT, Király Z, Király-Incze E, Kostyál L, Kovács A, Kovács A, Kuczkó É, Makra Z, Maurovich Horvát P, Merth G, Moldoványi I, Müller V, Pápai-Székely Z, Papp D, Polgár C, Rózsa P, Sárosi V, Szalai Z, Székely A, Szuhács M, Tárnoki D, Tavaszi G, Turóczi-Kirizs R, Tóth L, Urbán L, Vaskó A, Vigh É, Dome B, Bogos K. Kerpel-Fronius A, et al. Eur Radiol. 2024 May;34(5):3462-3470. doi: 10.1007/s00330-023-10379-8. Epub 2023 Nov 3. Eur Radiol. 2024. PMID: 37921926
Broad Ultrastructural and Transcriptomic Changes Underlie the Multinucleated Giant Hemocyte Mediated Innate Immune Response against Parasitoids.
Cinege G, Magyar LB, Kovács AL, Lerner Z, Juhász G, Lukacsovich D, Winterer J, Lukacsovich T, Hegedűs Z, Kurucz É, Hultmark D, Földy C, Andó I. Cinege G, et al. Among authors: kovacs al. J Innate Immun. 2022;14(4):335-354. doi: 10.1159/000520110. Epub 2021 Dec 3. J Innate Immun. 2022. PMID: 34864742 Free PMC article.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: kovacs al. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model.
Saskői É, Hujber Z, Nyírő G, Likó I, Mátyási B, Petővári G, Mészáros K, Kovács AL, Patthy L, Supekar S, Fan H, Sváb G, Tretter L, Sarkar A, Nazir A, Sebestyén A, Patócs A, Mehta A, Takács-Vellai K. Saskői É, et al. Among authors: kovacs al. Dis Model Mech. 2020 Oct 15;13(10):dmm044925. doi: 10.1242/dmm.044925. Dis Model Mech. 2020. PMID: 32859697 Free PMC article.
100 results