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Items: 1 to 20 of 165

1.
Congenital Dyserythropoietic Anemia Type I: A Rare Case Report
Vaidehi Nagar, Nanda J Patil
Cureus. 2023 Nov; 15(11): e48594. Published online 2023 Nov 10. doi: 10.7759/cureus.48594
PMCID:
PMC10711332
AbstractArticlePDF–1.0M
2.
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)
Omar Niss, Robert B. Lorsbach, Mikaela Berger, Satheesh Chonat, Morgan McLemore, David Buchbinder, Timothy McCavit, Linda G. Shaffer, Jessica Simpson, Jeffrey H. Schwartz, Jessica Meznarich, Myesa Emberesh, Katie G. Seu, Wenying Zhang, Theodosia A. Kalfa
Blood Cells Mol Dis. Author manuscript; available in PMC 2022 Mar 1.
Published in final edited form as: Blood Cells Mol Dis. 2021 Mar; 87: 102534. Published online 2020 Dec 24. doi: 10.1016/j.bcmd.2020.102534
PMCID:
PMC8809105
AbstractArticlePDF–705K
3.
Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities
Caroline Scott, Damien J. Downes, Jill M. Brown, Robert A. Beagrie, Aude-Anais Olijnik, Matthew Gosden, Ron Schwessinger, Christopher A. Fisher, Anna Rose, David J.P Ferguson, Errin Johnson, Quentin A. Hill, Steven Okoli, Raffaele Renella, Kate Ryan, Marjorie Brand, Jim Hughes, Noemi B.A. Roy, Douglas R. Higgs, Christian Babbs, Veronica J. Buckle
Haematologica. 2021 Nov 1; 106(11): 2960–2970. Published online 2020 Oct 29. doi: 10.3324/haematol.2020.260158
PMCID:
PMC8561284
AbstractArticlePDF–1.1M
4.
Genetic and Functional Insights into CDA-I Prevalence and Pathogenesis
Aude-Anaïs Olijnik, Noémi Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J. Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Evalena Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R. Hughes, Richard Gibbons, Anja Groth, Peter J. McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs
J Med Genet. Author manuscript; available in PMC 2022 Aug 13.
Published in final edited form as: J Med Genet. 2021 Mar 1; 58(3): 185–195. Published online 2020 Jun 9. doi: 10.1136/jmedgenet-2020-106880
PMCID:
PMC7613268
AbstractArticlePDF–2.0M
5.
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
Roberta Russo, Roberta Marra, Immacolata Andolfo, Gianluca De Rosa, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon
Front Physiol. 2020; 11: 940. Published online 2020 Aug 11. doi: 10.3389/fphys.2020.00940
Corrects:
Front Physiol. 2019; 10: 621.
PMCID:
PMC7432228
CorrectionPDF–81K
6.
A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I)
Maithili Shroff, Axel Knebel, Rachel Toth, John Rouse
Biochem J. 2020 May 29; 477(10): 1893–1905. Prepublished online 2020 Apr 2. Published online 2020 May 28. doi: 10.1042/BCJ20190944
PMCID:
PMC7261414
AbstractArticlePDF–2.3M
7.
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease
Grace Swickley, Yehoshua Bloch, Lidor Malka, Adi Meiri, Sharon Noy-Lotan, Amiel Yanai, Hannah Tamary, Benny Motro
BMC Mol Cell Biol. 2020; 21: 18. Published online 2020 Mar 23. doi: 10.1186/s12860-020-00258-1
PMCID:
PMC7092493
AbstractArticlePDF–2.9M
8.
Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report
Catalina Jaramillo, Anna K Ermarth, Angelica R Putnam, Mark Deneau
World J Hepatol. 2019 May 27; 11(5): 477–482. Published online 2019 May 27. doi: 10.4254/wjh.v11.i5.477
PMCID:
PMC6547294
AbstractArticlePDF–6.5M
9.
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
Roberta Russo, Roberta Marra, Immacolata Andolfo, Gianluca De Rosa, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon
Front Physiol. 2019; 10: 621. Published online 2019 May 22. doi: 10.3389/fphys.2019.00621
Correction in:
Front Physiol. 2020; 11: 940.
PMCID:
PMC6539198
AbstractArticlePDF–1.3M
10.
Fetal presentation of Congenital Dyserythropoietic Anemia Type 1 with novel compound heterozygous CDAN1 mutations
Jessica A. Meznarich, Lauren Draper, Robert D. Christensen, Hassan M. Yaish, Nick D. Luem, Theodore J. Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M. Ward
Blood Cells Mol Dis. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Blood Cells Mol Dis. 2018 Jul; 71: 63–66. Published online 2018 Mar 20. doi: 10.1016/j.bcmd.2018.03.002
PMCID:
PMC5947870
AbstractArticlePDF–863K
11.
Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers
V. Agrigento, R. Barone, S. Sclafani, R. Di Maggio, M. Sacco, A. Maggio, E. D’Alcamo
Indian J Hematol Blood Transfus. 2017 Dec; 33(4): 621–623. Published online 2016 Dec 18. doi: 10.1007/s12288-016-0765-9
PMCID:
PMC5640524
AbstractArticlePDF–362K
12.
New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia
Elena D’Alcamo, V. Agrigento, L. Pitrolo, S. Sclafani, R. Barone, G. Calvaruso, V. Buffa, A. Maggio
Indian J Hematol Blood Transfus. 2016 Jun; 32(Suppl 1): 278–281. Published online 2016 Jan 5. doi: 10.1007/s12288-015-0633-z
PMCID:
PMC4925544
AbstractArticlePDF–558K
13.
Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha
Ayse Salihoglu, Tugrul Elverdi, Ahmet Emre Eskazan, Deniz Eyice, Isil Bavunoglu, Muhlis Cem Ar, Seniz Ongoren, Elif Guzel, Zafer Baslar, Aydin Tunckale, Nukhet Tuzuner, Teoman Soysal
Indian J Hematol Blood Transfus. 2016 Jun; 32(Suppl 1): 272–277. Published online 2015 Sep 21. doi: 10.1007/s12288-015-0600-8
PMCID:
PMC4925531
AbstractArticlePDF–682K
14.
Congenital Dyserythropoietic Anemia Type I: Report of a Case
A. Kumar, R. Kushwaha, U. S. Singh
Indian J Hematol Blood Transfus. 2014 Mar; 30(1): 48–50. Published online 2012 Aug 28. doi: 10.1007/s12288-012-0187-2
PMCID:
PMC3921327
AbstractArticlePDF–551K
15.
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I
Christian Babbs, Nigel A. Roberts, Luis Sanchez-Pulido, Simon J. McGowan, Momin R. Ahmed, Jill M. Brown, Mohamed A. Sabry, WGS500 Consortium, David R. Bentley, Gil A. McVean, Peter Donnelly, Opher Gileadi, Chris P. Ponting, Douglas R. Higgs, Veronica J. Buckle
Haematologica. 2013 Sep; 98(9): 1383–1387. doi: 10.3324/haematol.2013.089490
PMCID:
PMC3762094
AbstractArticlePDF–343K
16.
Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I
Hannah Tamary, Hanna Shalev, Galit Perez-Avraham, Meira Zoldan, Itai Levi, Dorine W. Swinkels, Toshihiko Tanno, Jeffery L. Miller
Blood. 2008 Dec 15; 112(13): 5241–5244. Prepublished online 2008 Sep 29. doi: 10.1182/blood-2008-06-165738
PMCID:
PMC2954708
AbstractArticle
17.
Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated
Sharon Noy-Lotan, Orly Dgany, Roxane Lahmi, Nathaly Marcoux, Tanya Krasnov, Nissan Yissachar, Doron Ginsberg, Benny Motro, Peretz Resnitzky, Isaac Yaniv, Gary M. Kupfer, Hannah Tamary
Haematologica. 2009 May; 94(5): 629–637. Published online 2009 Mar 31. doi: 10.3324/haematol.2008.003327
PMCID:
PMC2675674
AbstractArticlePDF–481K
18.
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3.
H Tamary, L Shalmon, H Shalev, A Halil, D Dobrushin, N Ashkenazi, M Zoldan, P Resnitzky, M Korostishevsky, B Bonne-Tamir, R Zaizov
Am J Hum Genet. 1998 May; 62(5): 1062–1069. doi: 10.1086/301834
PMCID:
PMC1377091
SummaryPDF–286K
19.
Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Orly Dgany, Nili Avidan, Jean Delaunay, Tatyana Krasnov, Lea Shalmon, Hanna Shalev, Tal Eidelitz-Markus, Joseph Kapelushnik, Daniel Cattan, Alexandre Pariente, Michel Tulliez, Aurore Crétien, Pierre-Olivier Schischmanoff, Achille Iolascon, Eithan Fibach, Ariel Koren, Jochen Rössler, Martine Le Merrer, Isaac Yaniv, Rina Zaizov, Edna Ben-Asher, Tsvyia Olender, Doron Lancet, Jacques S. Beckmann, Hannah Tamary
Am J Hum Genet. 2002 Dec; 71(6): 1467–1474. Published online 2002 Nov 14. doi: 10.1086/344781
PMCID:
PMC378595
AbstractArticlePDF–1.0M
20.
Associations of dietary patterns between age 9 and 24 months with risk of celiac disease autoimmunity and celiac disease among children at increased risk
Elin M. Hård af Segerstad, Lazarus K. Mramba, Xiang Liu, Ulla Uusitalo, Jimin Yang, Jill Norris, Suvi M. Virtanen, Edwin Liu, Kalle Kurppa, Sibylle Koletzko, Annette G. Ziegler, Jorma Toppari, Marian Rewers, Beena Akolkar, Jeffrey P. Krischer, Carin Andrén Aronsson, Daniel Agardh, for the TEDDY study group
Am J Clin Nutr. 2023 Dec; 118(6): 1099–1105. Published online 2023 Oct 16. doi: 10.1016/j.ajcnut.2023.08.009
PMCID:
PMC10925856
AbstractArticlePDF–353K

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