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Page 1
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. Somekh I, et al. Among authors: schiby g. Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. Blood. 2019. PMID: 31501153 Free PMC article.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y. Somech R, et al. Among authors: schiby g. J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10. J Immunol. 2017. PMID: 29127144 Free PMC article.
Testicular failure in a patient with G6PC3 deficiency.
Yeshayahu Y, Asaf R, Dubnov-Raz G, Schiby G, Simon AJ, Lev A, Somech R. Yeshayahu Y, et al. Among authors: schiby g. Pediatr Res. 2014 Aug;76(2):197-201. doi: 10.1038/pr.2014.64. Epub 2014 May 5. Pediatr Res. 2014. PMID: 24796372
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. Vilboux T, et al. Among authors: schiby g. N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738510 Free PMC article.
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R. Simon AJ, et al. Among authors: schiby g. J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18. J Exp Med. 2016. PMID: 27432940 Free PMC article.
Genome-scale expression and transcription factor binding profiles reveal therapeutic targets in transgenic ERG myeloid leukemia.
Goldberg L, Tijssen MR, Birger Y, Hannah RL, Kinston SJ, Schütte J, Beck D, Knezevic K, Schiby G, Jacob-Hirsch J, Biran A, Kloog Y, Marcucci G, Bloomfield CD, Aplan PD, Pimanda JE, Göttgens B, Izraeli S. Goldberg L, et al. Among authors: schiby g. Blood. 2013 Oct 10;122(15):2694-703. doi: 10.1182/blood-2013-01-477133. Epub 2013 Aug 23. Blood. 2013. PMID: 23974202 Free PMC article.
ETV6-NCOA2 fusion induces T/myeloid mixed-phenotype leukemia through transformation of nonthymic hematopoietic progenitor cells.
Fishman H, Madiwale S, Geron I, Bari V, Van Loocke W, Kirschenbaum Y, Ganmore I, Kugler E, Rein-Gil A, Friedlander G, Schiby G, Birger Y, Strehl S, Soulier J, Knoechel B, Ferrando A, Noy-Lotan S, Nagler A, Mulloy JC, Van Vlierberghe P, Izraeli S. Fishman H, et al. Among authors: schiby g. Blood. 2022 Jan 20;139(3):399-412. doi: 10.1182/blood.2020010405. Blood. 2022. PMID: 34624096 Free PMC article.
Mycosis fungoides associated with B-cell malignancies.
Barzilai A, Trau H, David M, Feinmesser M, Bergman R, Shpiro D, Schiby G, Rosenblatt K, Or R, Hodak E. Barzilai A, et al. Among authors: schiby g. Br J Dermatol. 2006 Aug;155(2):379-86. doi: 10.1111/j.1365-2133.2006.07346.x. Br J Dermatol. 2006. PMID: 16882178
80 results