Literature DB >> 19407313

Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II.

Achille Iolascon, Jean Delaunay.   

Abstract

The congenital dyserythropoietic anemias are rare recessive disorders characterized by erythroblast multinuclearity, ineffective erythropoiesis, anemia and iron overload. In this perspective article, Drs. Iolascon and Delaunay examine genetic and clinical aspects of these inherited disorders.

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Year:  2009        PMID： 19407313      PMCID： PMC2675668          DOI： 10.3324/haematol.2009.005785

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


  25 in total

1.  Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I.

Authors:  S N Wickramasinghe; S L Thein; S Srichairatanakool; J B Porter
Journal:  Br J Haematol       Date:  1999-12       Impact factor: 6.998

2.  Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

Authors:  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
Journal:  Am J Hum Genet       Date:  2002-11-14       Impact factor: 11.025

3.  Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I.

Authors:  Thierry Lavabre-Bertrand; Jeanne Ramos; Christophe Delfour; Laurent Henry; Isabelle Guiraud; Serge Carillo; André Wagner; Jean Paul Bureau; Pierre Blanc
Journal:  Eur J Haematol       Date:  2004-11       Impact factor: 2.997

4.  CATSPER2, a human autosomal nonsyndromic male infertility gene.

Authors:  Nili Avidan; Hannah Tamary; Orly Dgany; Daniel Cattan; Alexandre Pariente; Michel Thulliez; Nicolas Borot; Lucien Moati; Alain Barthelme; Lea Shalmon; Tatyana Krasnov; Edna Ben-Asher; Tsvyia Olender; Miriam Khen; Issac Yaniv; Rina Zaizov; Hanna Shalev; Jean Delaunay; Marc Fellous; Doron Lancet; Jacques S Beckmann
Journal:  Eur J Hum Genet       Date:  2003-07       Impact factor: 4.246

5.  Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.

Authors:  H Tamary; H Shalev; D Luria; D Shaft; M Zoldan; L Shalmon; A Gruinspan; B Stark; M Chaison; E Shinar; P Resnitzky; R Zaizov
Journal:  Blood       Date:  1996-03-01       Impact factor: 22.113

6.  The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.

Authors:  N Alloisio; P Texier; L Denoroy; C Berger; E Miraglia del Giudice; S Perrotta; A Iolascon; F Gilsanz; G Berger; J Guichard
Journal:  Blood       Date:  1996-05-15       Impact factor: 22.113

7.  Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.

Authors:  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
Journal:  Haematologica       Date:  2009-03-31       Impact factor: 9.941

8.  Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1.

Authors:  Silverio Perrotta; Lucio Luzzatto; Massimo Carella; Achille Iolascon
Journal:  Blood       Date:  2003-10-01       Impact factor: 22.113

9.  Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.

Authors:  Carmela Lanzara; Romina Ficarella; Angela Totaro; Xin Chen; Roberta Roberto; Silverio Perrotta; Carla Lasalandra; Paolo Gasparini; Achille Iolascon; Massimo Carella
Journal:  Blood Cells Mol Dis       Date:  2003 Jan-Feb       Impact factor: 3.039

10.  Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II.

Authors:  L De Franceschi; F Turrini; E M del Giudice; S Perrotta; O Olivieri; R Corrocher; F Mannu; A Iolascon
Journal:  Exp Hematol       Date:  1998-08       Impact factor: 3.084
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  7 in total

1.  Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.

Authors:  Mario Cazzola; Rosangela Invernizzi
Journal:  Haematologica       Date:  2010-05       Impact factor: 9.941

2.  Congenital dyserythropoietic anemia.

Authors:  Takahiro Kamiya; Atsushi Manabe
Journal:  Int J Hematol       Date:  2010-09-07       Impact factor: 2.490

3.  Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Authors:  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
Journal:  Blood Cells Mol Dis       Date:  2020-12-24       Impact factor: 3.039

4.  Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

Authors:  Roberta Russo; Maria Rosaria Esposito; Roberta Asci; Antonella Gambale; Silverio Perrotta; Ugo Ramenghi; Gian Luca Forni; Vedat Uygun; Jean Delaunay; Achille Iolascon
Journal:  Am J Hematol       Date:  2010-12       Impact factor: 10.047

Review 5.  The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Authors:  Noémi B A Roy; Christian Babbs
Journal:  Br J Haematol       Date:  2019-03-05       Impact factor: 6.998

6.  SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.

Authors:  Barbara Eleni Rosato; Roberta Marra; Vanessa D'Onofrio; Federica Del Giudice; Simone Della Monica; Achille Iolascon; Immacolata Andolfo; Roberta Russo
Journal:  Int J Mol Sci       Date:  2022-01-24       Impact factor: 5.923

7.  Genetic and functional insights into CDA-I prevalence and pathogenesis.

Authors:  Aude-Anais Olijnik; Noémi B A 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; Eva-Lena Maria Stattin; Nandini Sadasivam; Louisa McIlwaine; Quentin A Hill; Raffaele Renella; Jim R Hughes; Richard J Gibbons; Anja Groth; Peter J McHugh; Douglas R Higgs; Veronica J Buckle; Christian Babbs
Journal:  J Med Genet       Date:  2020-06-09       Impact factor: 5.941
  7 in total

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