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Select item 103502591.

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

Arati Nandan Saptarshi, Rashmi K. Dongerdiye, Tejashree Anil More, Prabhakar S. Kedar

Ital J Pediatr. 2023; 49: 84. Published online 2023 Jul 16. doi: 10.1186/s13052-023-01493-w

PMCID:: PMC10350259

Abstract Article PDF–1.5M

Select item 102984082.

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

Int J Mol Sci. 2023 Jun; 24(12): 9935. Published online 2023 Jun 9. doi: 10.3390/ijms24129935

PMCID:: PMC10298408

Abstract Article PDF–4.6M

Select item 98914393.

Ultrastructural characteristics of erythroid cells in congenital dyserythropoietic anemia type II, with a focus on peripheral cisternae and double membranes

Yong-Xin Ru, Shu-Xu Dong, Jing Liu, Brian Eyden

Blood Sci. 2023 Jan; 5(1): 25–31. Published online 2022 Oct 10. doi: 10.1097/BS9.0000000000000136

PMCID:: PMC9891439

Abstract Article PDF–1.5M

Select item 97380864.

Cell Differentiation Agent-2 (CDA-2) Inhibits the Growth and Migration of Saos-2 Cells via miR-124/MAPK1 [Retraction]

Cancer Manag Res. 2022; 14: 3419–3420. Published online 2022 Dec 6. doi: 10.2147/CMAR.S400292

Retracts:: Cancer Manag Res. 2020; 12: 4541–4548.

PMCID:: PMC9738086

Retraction PDF–233K

Select item 94644595.

Congenital Dyserythropoietic Anemia Type II: A Case Report

Muhammad Mujeeb Hassan, Azka A Mirza, Rafay Zaidi, Moeena Malik, Maham Javaid

Cureus. 2022 Aug; 14(8): e27933. Published online 2022 Aug 12. doi: 10.7759/cureus.27933

PMCID:: PMC9464459

Abstract Article PDF–83K

Select item 86126866.

SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II

Richard King, Zesen Lin, Ginette Balbin-Cuesta, Gregg Myers, Ann Friedman, Guojing Zhu, Beth McGee, Thomas L. Saunders, Ryo Kurita, Yukio Nakamura, James Douglas Engel, Pavan Reddy, Rami Khoriaty

Sci Adv. 2021 Nov; 7(48): eabj5293. Published online 2021 Nov 24. doi: 10.1126/sciadv.abj5293

PMCID:: PMC8612686

Abstract Article PDF–5.8M

Select item 74322107.

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

Gianluca De Rosa, Immacolata Andolfo, Roberta Marra, Francesco Manna, Barbara Eleni Rosato, Achille Iolascon, Roberta Russo

Int J Mol Sci. 2020 Aug; 21(15): 5577. Published online 2020 Aug 4. doi: 10.3390/ijms21155577

PMCID:: PMC7432210

Abstract Article PDF–1.6M

Select item 73046738.

Cell Differentiation Agent-2 (CDA-2) Inhibits the Growth and Migration of Saos-2 Cells via miR-124/MAPK1

Quanxiu Li, Guangchun Li, Changyi Liu, Na Chen, Bangyu Deng, Youke Xie

Cancer Manag Res. 2020; 12: 4541–4548. Published online 2020 Jun 15. doi: 10.2147/CMAR.S248851

Retraction in:: Cancer Manag Res. 2022; 14: 3419–3420.

PMCID:: PMC7304673

Abstract Article

Select item 40661419.

A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis

Themistoklis Vassiliadis, Vassilia Garipidou, Vassilios Perifanis, Konstantinos Tziomalos, Olga Giouleme, Kalliopi Patsiaoura, Michalis Avramidis, Nikolaos Nikolaidis, Sofia Vakalopoulou, Ioannis Tsitouridis, Antonios Antoniadis, Panagiotis Semertzidis, Anna Kioumi, Evangelos Premetis, Nikolaos Eugenidis

World J Gastroenterol. 2006 Feb 7; 12(5): 818–821. Published online 2006 Feb 7. doi: 10.3748/wjg.v12.i5.818

PMCID:: PMC4066141

Abstract Article PDF–575K

Select item 381518110.

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

Timothy J. Satchwell, Stephanie Pellegrin, Paola Bianchi, Bethan R. Hawley, Alexandra Gampel, Kathryn E. Mordue, Annika Budnik, Elisa Fermo, Wilma Barcellini, David J. Stephens, Emile van den Akker, Ashley M. Toye

Haematologica. 2013 Nov; 98(11): 1788–1796. doi: 10.3324/haematol.2013.085522

PMCID:: PMC3815181

Abstract Article PDF–2.1M

Select item 365193311.

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

Roberta Russo, Concetta Langella, Maria Rosaria Esposito, Antonella Gambale, Francesco Vitiello, Fara Vallefuoco, Torben Ek, Elizabeth Yang, Achille Iolascon

Blood Cells Mol Dis. 2013 Jun; 51(1): 17–21. doi: 10.1016/j.bcmd.2013.02.003

PMCID:: PMC3651933

Abstract Article

Select item 345312012.

Congenital dyserythropoietic anemia type II — a case report of two siblings in a family

Khaidem Ibochouba Singh, Jigme Tenzing Shartsho, Waikhom Ruhini Kumar Singh, Raj Kumari Tamphasana Devi, Ahongshangbam Meina Singh

Indian J Hematol Blood Transfus. 2007 Dec; 23(3-4): 116–118. Published online 2008 Mar 19. doi: 10.1007/s12288-008-0011-1

PMCID:: PMC3453120

Summary PDF–54K

Select item 326936913.

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra, Silverio Perrotta

Orphanet J Rare Dis. 2011; 6: 89. Published online 2011 Dec 30. doi: 10.1186/1750-1172-6-89

PMCID:: PMC3269369

Abstract Article PDF–579K

Select item 325854214.

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Roberta Russo, Antonella Gambale, Maria Rosaria Esposito, Maria Luisa Serra, Annaelena Troiano, Ilaria De Maggio, Mario Capasso, Lucio Luzzatto, Jean Delaunay, Hannah Tamary, Achille Iolascon

Am J Hematol. 2011 Sep; 86(9): 727–732. Published online 2011 Jun 14. doi: 10.1002/ajh.22096

PMCID:: PMC3258542

Abstract Article PDF–359K

Select item 301506515.

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Antonella Gambale, Silverio Perrotta, Ugo Ramenghi, Gian Luca Forni, Vedat Uygun, Jean Delaunay, Achille Iolascon

Am J Hematol. 2010 Dec; 85(12): 915–920. doi: 10.1002/ajh.21866

PMCID:: PMC3015065

Abstract Article PDF–1.3M

Select item 286437516.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay

Haematologica. 2010 May; 95(5): 708–715. Published online 2009 Dec 16. doi: 10.3324/haematol.2009.014985

PMCID:: PMC2864375

Abstract Article PDF–687K

Select item 114637517.

Congenital dyserythropoietic anaemia type II (HEMPAS): a family study.

S R McCann, R Firth, N Murray, I J Temperley

J Clin Pathol. 1980 Dec; 33(12): 1197–1201. doi: 10.1136/jcp.33.12.1197

PMCID:: PMC1146375

Summary Page Browse PDF–1.0M

Select item 50020418.

Parvovirus infection associated with aplastic crisis in a patient with HEMPAS.

N C West, R E Meigh, M Mackie, M J Anderson

J Clin Pathol. 1986 Sep; 39(9): 1019–1020. doi: 10.1136/jcp.39.9.1019

PMCID:: PMC500204

Summary Page Browse PDF–300K

Select item 5476319.

Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.

M N Fukuda, K A Masri, A Dell, L Luzzatto, K W Moremen

Proc Natl Acad Sci U S A. 1990 Oct; 87(19): 7443–7447. doi: 10.1073/pnas.87.19.7443

PMCID:: PMC54763

Summary Page Browse PDF–1.2M

Select item 1002053220.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

Anna Zaninoni, Roberta Marra, Elisa Fermo, Dario Consonni, Immacolata Andolfo, Anna Paola Marcello, Barbara Eleni Rosato, Cristina Vercellati, Wilma Barcellini, Achille Iolascon, Paola Bianchi, Roberta Russo

Sci Rep. 2023; 13: 4395. Published online 2023 Mar 16. doi: 10.1038/s41598-023-31571-2