146 related articles for article (PubMed ID: 29536501)
1. Transduction with BBF2H7/CREB3L2 upregulates SEC23A protein in erythroblasts and partially corrects the hypo-glycosylation phenotype associated with CDAII.
Pellegrin S; Haydn-Smith KL; Hampton-O'Neil LA; Hawley BR; Heesom KJ; Fermo E; Bianchi P; Toye AM
Br J Haematol; 2019 Mar; 184(5):876-881. PubMed ID: 29536501
[No Abstract] [Full Text] [Related]
2. Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
Khoriaty R; Hesketh GG; Bernard A; Weyand AC; Mellacheruvu D; Zhu G; Hoenerhoff MJ; McGee B; Everett L; Adams EJ; Zhang B; Saunders TL; Nesvizhskii AI; Klionsky DJ; Shavit JA; Gingras AC; Ginsburg D
Proc Natl Acad Sci U S A; 2018 Aug; 115(33):E7748-E7757. PubMed ID: 30065114
[TBL] [Abstract][Full Text] [Related]
3. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P; Fermo E; Vercellati C; Boschetti C; Barcellini W; Iurlo A; Marcello AP; Righetti PG; Zanella A
Hum Mutat; 2009 Sep; 30(9):1292-8. PubMed ID: 19621418
[TBL] [Abstract][Full Text] [Related]
4. Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.
Satchwell TJ; Pellegrin S; Bianchi P; Hawley BR; Gampel A; Mordue KE; Budnik A; Fermo E; Barcellini W; Stephens DJ; van den Akker E; Toye AM
Haematologica; 2013 Nov; 98(11):1788-96. PubMed ID: 23935019
[TBL] [Abstract][Full Text] [Related]
5. Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F; Bertoli-Avella AM; Scianguetta S; Della Ragione F; Casale M; Ronzoni L; Cappellini MD; Forni G; Oostra BA; Perrotta S
Orphanet J Rare Dis; 2011 Dec; 6():89. PubMed ID: 22208203
[TBL] [Abstract][Full Text] [Related]
6. Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis.
Fukuda MN
Baillieres Clin Haematol; 1993 Jun; 6(2):493-511. PubMed ID: 8043936
[TBL] [Abstract][Full Text] [Related]
7. Congenital dyserythropoietic anemia in China: a case report from two families and a review.
Ru Y; Liu G; Bai J; Dong S; Nie N; Zhang H; Zhao S; Zheng Y; Zhu X; Nie G; Zhang F; Eyden B
Ann Hematol; 2014 May; 93(5):773-7. PubMed ID: 24196372
[TBL] [Abstract][Full Text] [Related]
8. Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis.
Saito A; Hino S; Murakami T; Kanemoto S; Kondo S; Saitoh M; Nishimura R; Yoneda T; Furuichi T; Ikegawa S; Ikawa M; Okabe M; Imaizumi K
Nat Cell Biol; 2009 Oct; 11(10):1197-204. PubMed ID: 19767744
[TBL] [Abstract][Full Text] [Related]
9. Congenital dyserythropoietic anaemia type I with nails and bone abnormalities.
García-Zamora E; Naz-Villalba E; Pampín-Franco A; García-Iñigo FJ; López-Estebaranz JL
Clin Exp Dermatol; 2020 Jun; 45(4):515-517. PubMed ID: 31900952
[No Abstract] [Full Text] [Related]
10. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K; Iolascon A; Verissimo F; Trede NS; Horsley W; Chen W; Paw BH; Hopfner KP; Holzmann K; Russo R; Esposito MR; Spano D; De Falco L; Heinrich K; Joggerst B; Rojewski MT; Perrotta S; Denecke J; Pannicke U; Delaunay J; Pepperkok R; Heimpel H
Nat Genet; 2009 Aug; 41(8):936-40. PubMed ID: 19561605
[TBL] [Abstract][Full Text] [Related]
11. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.
Sharma P; Das R; Bansal D; Trehan A
Hematology; 2015 Mar; 20(2):104-7. PubMed ID: 24801240
[TBL] [Abstract][Full Text] [Related]
12. Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
Renella R; Roberts NA; Brown JM; De Gobbi M; Bird LE; Hassanali T; Sharpe JA; Sloane-Stanley J; Ferguson DJ; Cordell J; Buckle VJ; Higgs DR; Wood WG
Blood; 2011 Jun; 117(25):6928-38. PubMed ID: 21364188
[TBL] [Abstract][Full Text] [Related]
13. Transfusion-dependent congenital dyserythropoietic anaemia with intraerythroblastic inclusions of a non-globin protein.
Iolascon A; Martire B; Lee MJ; Wickramasinghe SN
Eur J Haematol; 2000 Aug; 65(2):140-3. PubMed ID: 10966176
[TBL] [Abstract][Full Text] [Related]
14. Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.
Khoriaty R; Vasievich MP; Jones M; Everett L; Chase J; Tao J; Siemieniak D; Zhang B; Maillard I; Ginsburg D
Mol Cell Biol; 2014 Oct; 34(19):3721-34. PubMed ID: 25071156
[TBL] [Abstract][Full Text] [Related]
15. CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis.
Singleton BK; Ahmed M; Green CA; Heimpel H; Woźniak MJ; Ranjha L; Seeney F; Bomford A; Mehta P; Guest A; Mushens R; King MJ
Cytometry B Clin Cytom; 2018 Mar; 94(2):312-326. PubMed ID: 27784127
[TBL] [Abstract][Full Text] [Related]
16. RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.
De Rosa G; Andolfo I; Marra R; Manna F; Rosato BE; Iolascon A; Russo R
Int J Mol Sci; 2020 Aug; 21(15):. PubMed ID: 32759740
[TBL] [Abstract][Full Text] [Related]
17. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
Russo R; Langella C; Esposito MR; Gambale A; Vitiello F; Vallefuoco F; Ek T; Yang E; Iolascon A
Blood Cells Mol Dis; 2013 Jun; 51(1):17-21. PubMed ID: 23453696
[TBL] [Abstract][Full Text] [Related]
18. The diagnostic challenge of congenital dyserythropoietic anaemia: two cases of 'CDA type II'.
Dukka S; King MJ; Hill QA
J Clin Pathol; 2014 Apr; 67(4):367-9. PubMed ID: 24385490
[TBL] [Abstract][Full Text] [Related]
19. Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.
Cazzola M; Invernizzi R
Haematologica; 2010 May; 95(5):693-5. PubMed ID: 20442439
[No Abstract] [Full Text] [Related]
20. [Congenital dyserythropoietic anemia type II: a case report and literature review].
Li Y; Zhao X; Zhou K; Li Y; Li JP; Ye L; Peng GX; Fan HH; Jing LP; Zhang L; Zhang FK
Zhonghua Xue Ye Xue Za Zhi; 2012 Apr; 33(4):270-3. PubMed ID: 22781715
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]