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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: cagdas d. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.
Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K. Akgun-Dogan O, et al. Among authors: cagdas d. Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4. Am J Med Genet A. 2019. PMID: 31584751
GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
Yao Y, Du Jiang P, Chao BN, Cagdas D, Kubo S, Balasubramaniyam A, Zhang Y, Shadur B, NaserEddin A, Folio LR, Schwarz B, Bohrnsen E, Zheng L, Lynberg M, Gottlieb S, Leney-Greene MA, Park AY, Tezcan I, Akdogan A, Gocmen R, Onder S, Rosenberg A, Soilleux EJ, Johnson E, Jackson PK, Demeter J, Chauvin SD, Paul F, Selbach M, Bulut H, Clatworthy MR, Tuong ZK, Zhang H, Stewart BJ, Bosio CM, Stepensky P, Clare S, Ganesan S, Pascall JC, Daumke O, Butcher GW, McMichael AJ, Simon AK, Lenardo MJ. Yao Y, et al. Among authors: cagdas d. J Exp Med. 2022 Jun 6;219(6):e20201405. doi: 10.1084/jem.20201405. Epub 2022 May 13. J Exp Med. 2022. PMID: 35551368 Free PMC article.
A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.
Rovshanov S, Göçmen R, Barişta İ, Çağdaş D, Üner A, Çilingir V, Filik İT, Tan Ç, Aytekin ES, Tezcan İ, Özen PA, Tuncer A. Rovshanov S, et al. Among authors: cagdas d. Noro Psikiyatr Ars. 2022 Aug 15;59(3):248-252. doi: 10.29399/npa.27900. eCollection 2022. Noro Psikiyatr Ars. 2022. PMID: 36160072 Free PMC article.
Phenotypic diversity in NAXE mutations.
Solmaz I, Yalnızoğlu D, Dursun A, Çıkı K, Akar HT, Özgül RK, Koşukçu C, Sezer A, Çağdaş D, Esenboğa S, Özbek B, Aygün D, Yılmaz DY, Parlak Ş, Göçmen R, Oğuz KK, Anlar B. Solmaz I, et al. Among authors: cagdas d. Neurol Sci. 2025 Jun;46(6):2819-2828. doi: 10.1007/s10072-025-08006-z. Epub 2025 Feb 12. Neurol Sci. 2025. PMID: 39937421
135 results