المؤلفون: Tremblay-Laganière, Camille, Michaud, Coralie, Abourjaili-Bilodeau, Raphaël, Cabezas, Alicia, Canales, José, Costas, María Jesús, Ribeiro, João, M, Leclerc-Blain, Jessica, Touzot, Fabien, Haddad, Elie, Teira, Pierre, Duval, Michel, Onoufriadis, Alexandros, Meunier, Brigitte, Cameselle, José Carlos, Campeau, Philippe, M

المساهمون: Universidad de Extremadura - University of Extremadura (UEX), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: triokinase and FMN cyclase, DAK, TKFC primary immunodeficiency triokinase cyclic FMN DAK fructose metabolism, TKFC, primary immunodeficiency, triokinase, cyclic FMN, fructose metabolism, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity

الاتاحة: https://hal.science/hal-04589449
https://hal.science/hal-04589449v1/document
https://hal.science/hal-04589449v1/file/TKFC-Draft_.pdf
https://doi.org/10.1136/jmg-2024-109853

المؤلفون: Androniki Kapousouzi, Fani Kalala, Styliani Sarrou, Evangelia Farmaki, Nikolaos Antonakos, Ioannis Kakkas, Alexandra Kourakli, Vassiliki Labropoulou, Charikleia Kelaidi, Georgia Tsiouma, Maria Dimou, Theodoros P. Vassilakopoulos, Michael Voulgarelis, Ilias Onoufriadis, Eleni Papadimitriou, Sophia Polychronopoulou, Evangelos J. Giamarellos-Bourboulis, Argiris Symeonidis, Christos Hadjichristodoulou, Anastasios E. Germenis, Matthaios Speletas

المصدر: Medicina, Vol 60, Iss 5, p 782 (2024)

مصطلحات موضوعية: predominantly antibody deficiencies, common variable immunodeficiency, IgA deficiency, IgG subclass deficiency, CTLA4, diagnosis, Medicine (General), R5-920

Relation: https://www.mdpi.com/1648-9144/60/5/782; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144; https://doaj.org/article/9e642387b2d3428fb7933e096a8f5287

الاتاحة: https://doi.org/10.3390/medicina60050782
https://doaj.org/article/9e642387b2d3428fb7933e096a8f5287

المؤلفون: Papanikolaou, Marieta, Nattkemper, Leigh, Benzian-Olsson, Natashia, Liu, Lu, Guy, Alyson, Lu, Han, Kadiyirire, Tendai, Hou, Ping-Chen, Aala, Wilson, Serrano, Sonia, Pramanik, Rashida, Walters, Nina, Dimitrakopoulou, Konstantina, Lwin, Su, Kalfas, Emily, Satoc, Jose, Laddach, Roman, Cozzetto, Domenico, Thomas, Bjorn, Kesidou, Evangelia, Rashidghamat, Ellie, Orchard, Guy, O'Toole, Edel A., Hsu, Chao-Kai, Saqi, Mansoor, Steinhoff, Martin, Onoufriadis, Alexandros, Yosipovitch, Gil, Gould, Hannah, Mellerio, Jemima E., McGrath, John A.

المساهمون: DebRA

المصدر: Journal of the American Academy of Dermatology ; ISSN 0190-9622

الاتاحة: http://dx.doi.org/10.1016/j.jaad.2024.01.088
https://api.elsevier.com/content/article/PII:S0190962224004870?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0190962224004870?httpAccept=text/plain

المؤلفون: Adam Sheriff, Ina Guri, Paulina Zebrowska, Virginia Llopis-Hernandez, Imogen R. Brooks, Stavroula Tekkela, Kavita Subramaniam, Ruta Gebrezgabher, Gaetano Naso, Anastasia Petrova, Katarzyna Balon, Alexandros Onoufriadis, Dorota Kujawa, Martyna Kotulska, Gregory Newby, Łukasz Łaczmański, David R. Liu, John A. McGrath, Joanna Jacków

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/03e319002a21459e8249bcc2341dc40e

المؤلفون: Tsoi, LC, Spain, SL, Knight, J, Ellinghaus, E, Stuart, PE, Capon, F, Ding, J, Li, YM, Tejasvi, T, Gudjonsson, JE, Kang, HM, Allen, MH, McManus, R, Novelli, G, Samuelsson, L, Schalkwijk, J, Stahle, M, Burden, AD, Smith, CH, Cork, MJ, Estivill, X, Bowcock, AM, Krueger, GG, Weger, W, Worthington, J, Tazi-Ahnini, R, Nestle, FO, Hayday, A, Hoffmann, P, Winkelmann, J, Wijmenga, C, Langford, C, Edkins, S, Andrews, R, Blackburn, H, Strange, A, Band, G, Pearson, RD, Vukcevic, D, Spencer, CCA, Deloukas, P, Mrowietz, U, Schreiber, S, Weidinger, S, Koks, S, Kingo, K, Esko, T, Metspalu, A, Lim, HW, Voorhees, JJ, Weichenthal, M, Wichmann, HE, Chandran, V, Rosen, CF, Rahman, P, Gladman, DD, Griffiths, CEM, Reis, A, Kere, J, Nair, RP, Franke, A, Barker, JNWN, Abecasis, GR, Elder, JT, Trembath, RC, Duffin, KC, Helms, C, Goldgar, D, Li, Y, Paschall, J, Malloy, MJ, Pullinger, CR, Kane, JP, Gardner, J, Perlmutter, A, Miner, A, Feng, BJ, Hiremagalore, R, Ike, RW, Christophers, E, Henseler, T, Ruether, A, Schrodi, SJ, Prahalad, S, Guthery, SL, Fischer, J, Liao, W, Kwok, P, Menter, A, Lathrop, GM, Wise, C, Begovich, AB, Onoufriadis, A, Weale, ME, Hofer, A, Salmhofer, W, Wolf, P, Kainu, K, Saarialho-Kere, U, Suomela, S, Badorf, P, Huffmeier, U, Kurrat, W, Kuster, W, Lascorz, J, Mossner, R, Schurmeier-Horst, F, Stander, M, Traupe, H, Bergboer, JGM, den Heijer, M, van de Kerkhof, PCV, Zeeuwen, PLJM, Barnes, L, Campbell, LE, Cusack, C, Coleman, C, Conroy, J, Ennis, S, Fitzgerald, O, Gallagher, P, Irvine, AD, Kirby, B, Markham, T, McLean, WHI, McPartlin, J, Rogers, SF, Ryan, AW, Zawirska, A, Giardina, E, Lepre, T, Perricone, C, Martin-Ezquerra, G, Pujol, RM, Riveira-Munoz, E, Inerot, A, Naluai, AT, Mallbris, L, Wolk, K, Leman, J, Barton, A, Warren, RB, Young, HS, Ricano-Ponce, I, Trynka, G, Pellett, FJ, Henschel, A, Aurand, M, Bebo, B, Gieger, C, Illig, T, Moebus, S, Jockel, KH, Erbe, R, Donnelly, P, Peltonen, L, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Craddock, N, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, McCarthy, MI, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Samani, N, Viswanathan, AC, Wood, NW, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Su, Z, Hunt, SE, Gwilliam, R, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Perez, ML, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P

المصدر: Nature genetics. 44(12):1341-1348

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125738402

المؤلفون: Ung, Chuin Y, Warwick, Alasdair, Onoufriadis, Alexandros, Barker, Jonathan N, Parsons, Maddy, McGrath, John A, Shaw, Tanya J, Dand, Nick

المصدر: JAMA Dermatology , 159 (2) pp. 172-181. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10200949/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10200949/1/2022-10-20_DER22-1714R_Merged_PDF-RESUBMITTED.pdf
https://discovery.ucl.ac.uk/id/eprint/10200949/

المؤلفون: Endzhievskaya, Sofia, Hsu, Chao-Kai, Yang, Hsing-San, Huang, Hsin-Yu, Lin, Yu-Chen, Lee, John Y W, Onoufriadis, Alexandros, Takeichi, Takuya, Lee, Julia Yu-Yun, Shaw, Tanya, McGrath, John, Parsons, Madeline

المصدر: Endzhievskaya , S , Hsu , C-K , Yang , H-S , Huang , H-Y , Lin , Y-C , Lee , J Y W , Onoufriadis , A , Takeichi , T , Lee , J Y-Y , Shaw , T , McGrath , J & Parsons , M 2023 , ' Loss of RhoE function in dermatofibroma promotes disorganized dermal fibroblast extracellular matrix and increased integrin activation ' , Journal of Investigative Dermatology , vol. 143 , no. 8 , pp. 1487-1497.e9 . https://doi.org/10.1016/j.jid.2023.01.019

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/c89a4819-213f-46c4-83c9-b50bda0158b6

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/c89a4819-213f-46c4-83c9-b50bda0158b6
https://doi.org/10.1016/j.jid.2023.01.019
http://www.scopus.com/inward/record.url?scp=85150245203&partnerID=8YFLogxK

المؤلفون: Tekkela, Stavroula, Theocharidis, Georgios, McGrath, John A., Onoufriadis, Alexandros

المصدر: Experimental Dermatology ; volume 32, issue 6, page 731-739 ; ISSN 0906-6705 1600-0625

الاتاحة: http://dx.doi.org/10.1111/exd.14827
https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14827

المؤلفون: Doolan, Brent J, Rayinda, Tuntas, Chiu, Frank P, McGrath, John A, Onoufriadis, Alexandros

المصدر: British Journal of Dermatology ; volume 189, issue 2, page 154-160 ; ISSN 0007-0963 1365-2133

الاتاحة: https://doi.org/10.1093/bjd/ljad102
https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljad102/50682799/ljad102.pdf
https://academic.oup.com/bjd/article-pdf/189/2/154/51959985/ljad102.pdf

المؤلفون: Huang, H., Aala, W.F., Onoufriadis, A., Hsu, C., McGrath, J.A.

المصدر: Journal of Investigative Dermatology ; volume 143, issue 5, page S141 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2023.03.833
https://api.elsevier.com/content/article/PII:S0022202X23010084?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X23010084?httpAccept=text/plain

المؤلفون: Laganière, Camille Tremblay, Michaud, Coralie, Bilodeau, Raphaël Abourjaili, Cabezas, Alicia, Canales, José, Costas, María Jesús, Ribeiro, João M., Blain, Jessica Leclerc, Touzot, Fabien, Haddad, Elie, Teira, Pierre, Duval, Michel, Onoufriadis, Alexandros, Meunier, Brigitte, Cameselle, José Carlos, Campeau, Philippe M.

المصدر: Journal of Medical Genetics; Sep2024, Vol. 61 Issue 9, p886-890, 5p

المؤلفون: Ribeiro, João, M, Costas, María, Jesús, Cabezas, Alicia, Meunier, Brigitte, Onoufriadis, Alexandros, Cameselle, José, Carlos

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0014-5793.

مصطلحات موضوعية: fructose metabolism, glyceraldehyde phosphorylation, TKFC, triokinase and FMN cyclase, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03564461
https://hal.science/hal-03564461v1/document
https://hal.science/hal-03564461v1/file/FEBS%20Letters%20-%202022%20-%20Ribeiro%20-%20The%20TKFC%20Ala185Thr%20variant%20reported%20as%20null%20for%20fructose%20metabolism%20is%20fully%20active%20as.pdf
https://doi.org/10.1002/1873-3468.14309

المؤلفون: Ioanna Voulgaridi, Styliani Sarrou, Aikaterini Dadouli, Athanasia-Marina Peristeri, Asimina Nasika, Ilias Onoufriadis, Maria A. Kyritsi, Lemonia Anagnostopoulos, Aikaterini Theodoridou, Ioanna Avakian, Dimitra Pappa, Adamos-Konstantinos Konstantinou, Georgia Papadamou, Varvara A. Mouchtouri, Efi Petinaki, Matthaios Speletas, Christos Hadjichristodoulou

المصدر: Vaccines; Volume 10; Issue 8; Pages: 1268

مصطلحات موضوعية: COVID-19, vaccination, IgG, IgA, antibody responses, BNT162b2, Ad26.COV2.S, ChAdOx1 nCoV-19

وصف الملف: application/pdf

Relation: COVID-19 Vaccines and Vaccination; https://dx.doi.org/10.3390/vaccines10081268

الاتاحة: https://doi.org/10.3390/vaccines10081268

المؤلفون: Matthaios Speletas, Ioanna Voulgaridi, Styliani Sarrou, Aikaterini Dadouli, Varvara A. Mouchtouri, Dimitrios J. Nikoulis, Maria Tsakona, Maria A. Kyritsi, Athanasia-Marina Peristeri, Ioanna Avakian, Asimina Nasika, Paraskevi C. Fragkou, Charalampos D. Moschopoulos, Stamatia Zoubouneli, Ilias Onoufriadis, Lemonia Anagnostopoulos, Alexia Matziri, Georgia Papadamou, Aikaterini Theodoridou, Sotirios Tsiodras, Christos Hadjichristodoulou

المصدر: Vaccines; Volume 10; Issue 2; Pages: 316

مصطلحات موضوعية: COVID-19, vaccination, IgG, IgA, antibody responses, T cell responses

وصف الملف: application/pdf

Relation: Innate and Adaptive Immunity in Vaccination; https://dx.doi.org/10.3390/vaccines10020316

الاتاحة: https://doi.org/10.3390/vaccines10020316

المؤلفون: Doolan, Brent J., McGrath, John A., Onoufriadis, Alexandros

المصدر: Doolan , B J , McGrath , J A & Onoufriadis , A 2022 , ' A clinician's guide to omics resources in dermatology ' , Clinical and Experimental Dermatology , vol. 47 , no. 5 , pp. 858-866 . https://doi.org/10.1111/ced.15117

وصف الملف: application/pdf

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/1478849f-880c-43b3-a737-49dd9862bdc8

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/1478849f-880c-43b3-a737-49dd9862bdc8
https://doi.org/10.1111/ced.15117
https://kclpure.kcl.ac.uk/ws/files/171262252/A_clinician_s_guide_to_DOOLAN_Publishedonline3March2022_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=85125522963&partnerID=8YFLogxK

المؤلفون: Theocharidis, Georgios, Tekkela, Stavroula, Veves, Aristidis, McGrath, John A., Onoufriadis, Alexandros

المصدر: Theocharidis , G , Tekkela , S , Veves , A , McGrath , J A & Onoufriadis , A 2022 , ' Single-cell transcriptomics in human skin research : available technologies, technical considerations and disease applications ' , Experimental Dermatology , vol. 31 , no. 5 , pp. 655-673 . https://doi.org/10.1111/exd.14547

مصطلحات موضوعية: scRNA-seq, single-cell sequencing, single-cell transcriptomics, skin research

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/55061c4d-a544-4b6f-bda7-81c61b311d8b
https://doi.org/10.1111/exd.14547
https://kclpure.kcl.ac.uk/ws/files/171261843/Single_cell_transcriptomics_in_human_THEOCHARIDIS_Publishedonline4Mar2022_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=85125569673&partnerID=8YFLogxK

المؤلفون: Onoufriadis, Alexandros, Mcgrath, John A.

المصدر: Onoufriadis , A & Mcgrath , J A 2022 , ' The Past and Future of Rare Skin Disease Research and Therapy ' , Journal of Investigative Dermatology , vol. 142 , no. 4 , pp. 1010-1014 . https://doi.org/10.1016/j.jid.2021.11.042

وصف الملف: application/pdf

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/7c65f71c-c755-496e-b204-26884ebe566b
https://doi.org/10.1016/j.jid.2021.11.042
https://kclpure.kcl.ac.uk/ws/files/168229279/The_past_and_future_ONOUFRIADIS_Published_online_5_Feb_2022_Green_pre_proof.pdf
http://www.scopus.com/inward/record.url?scp=85126146134&partnerID=8YFLogxK

المؤلفون: Onoufriadis, Alexandros, Niazi, Umar, Dimitrakopoulou, Konstantina, Reich, Jeremias, Ainali, Chrysanthi, Papanikolaou, Maria, Kesidou, Evangelia, Hsu, Chao-Kai, Saqi, Mansoor, McGrath, John A., Reich, Kristian

المصدر: Journal of Investigative Dermatology ; volume 142, issue 2, page 489-493 ; ISSN 0022-202X

الاتاحة: http://dx.doi.org/10.1016/j.jid.2021.07.007
https://api.elsevier.com/content/article/PII:S0022202X21015062?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022202X21015062?httpAccept=text/plain

المؤلفون: Ribeiro, João Meireles, Costas Vázquez, María Jesús, Cabezas Martín, Alicia, Meunier, Brigitte, Onoufriadis, Alexandros, Cameselle Viña, José Carlos

Relation: https://doi.org/10.1002/1873-3468.14309

URL الوصول: http://hdl.handle.net/10662/16656

المؤلفون: Aala, Wilson Jr F, Hou, Ping-Chen, Hong, Yi-Kai, Lin, Yu-Chen, Lee, Yu-Rong, Tu, Wei-Ting, Papanikolaou, Marieta, Benzian-Olsson, Natashia, Onoufriadis, Alexandros, Harn, Hans I Chen, Hwang, Daw-Yang, Cheng, Siao Muk, Lu, Kurt, Chen, Peng-Chieh, McGrath, John A, Hsu, Chao-Kai

المصدر: British Journal of Dermatology; Aug2024, Vol. 191 Issue 2, p252-260, 9p

مصطلحات موضوعية: T helper cells, EPIDERMOLYSIS bullosa, ITCHING, TH2 cells, DRUG repositioning