Diamond-Blackfan anemia, ribosome and erythropoiesis.

Transfusion clinique et biologique : journal de la Société française de transfusion sanguine
Lydie Da CostaThierry Leblanc

Abstract

Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (five to seven cases per million live births) characterized by an aregenerative, usually macrocytic anemia with an absence or less than 5% of erythroid precursors (erythroblastopenia) in an otherwise normal bone marrow. The platelet and the white cell counts are usually normal but neutropenia, thrombopenia or thrombocytosis have been noted at diagnosis. In 40 to 50% of DBA patients, congenital abnormalities mostly in the cephalic area and in thumbs and upper limbs have been described. Recent analysis did show a phenotype/genotype correlation. Congenital erythroblastopenia of DBA is the first human disease identified to result from defects in ribosomal biogenesis. The first ribosomal gene involved in DBA, ribosomal protein (RP) gene S19 (RPS19 gene), was identified in 1999. Subsequently, mutations in 12 other RP genes out of a total of 78 RP genes have been identified in DBA. All RP gene mutations described to date are heterozygous and dominant inheritance has been documented in 40 to 45% of affected individuals. As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosom...Continue Reading

References

Mar 1, 1976·The Journal of Clinical Investigation·M H FreedmanE F Saunders
Sep 1, 1989·British Journal of Haematology·P H TsaiJ M Lipton
Oct 10, 1985·Nature·K KongsuwanJ Merriam
Jun 1, 1994·British Journal of Haematology·N CasadevallL Coulombel
Mar 1, 1995·British Journal of Haematology·C P McGuckinE C Gordon-Smith
Nov 1, 1994·Molecular and Cellular Biology·V MarechalA J Levine
Oct 10, 1997·Journal of Medical Genetics·P GustavssonN Dahl
Jul 25, 1998·Advances in Genetics·A Lambertsson
Feb 13, 1999·Nature Genetics·N DraptchinskaiaN Dahl
Feb 24, 2001·Journal of Pediatric Hematology/oncology·J M LiptonUNKNOWN Diamond-Black Anemia Registry
Nov 22, 2001·Biochemical and Biophysical Research Communications·F SouletG Bouche
Oct 24, 2002·Blood·Lydie Da CostaNarla Mohandas
Apr 30, 2003·Molecular Therapy : the Journal of the American Society of Gene Therapy·Isao HamaguchiStefan Karlsson
May 17, 2003·The Hematology Journal : the Official Journal of the European Haematology Association·Alexis ProustUNKNOWN SHIP Working Group on DBA
Jul 5, 2003·Cancer Cell·Marion A E LohrumKaren H Vousden
Apr 3, 2004·British Journal of Haematology·Karen A OrfaliSarah E Ball
Apr 15, 2004·Molecular and Cellular Biology·Hans MatssonNiklas Dahl
Aug 17, 2004·The Journal of Biological Chemistry·Mu-Shui Dai, Hua Lu
Aug 18, 2004·Molecular and Cellular Biology·Aiwen JinYanping Zhang
Nov 5, 2004·Blood·Fadi I JabrAli Taher
Mar 30, 2005·American Journal of Hematology·Masaharu AkiyamaYoshikatsu Eto
Apr 9, 2005·European Journal of Haematology·Akira MorimotoShinsaku Imashuku
Sep 15, 2005·The Journal of Biological Chemistry·Isabelle Léger-SilvestreSteven Robert Ellis
Nov 18, 2005·Biochemical and Biophysical Research Communications·Noriko MaedaTatsuo Tanaka
Nov 18, 2005·The Journal of Pediatrics·S ChenUNKNOWN Société Française d'Hématologie et d'Immunologie Pédiatrique
Jun 29, 2006·The Journal of Biological Chemistry·Mu-Shui DaiHua Lu
Oct 21, 2006·Blood·Valérie ChoesmelPierre-Emmanuel Gleizes
Feb 8, 2007·Blood·Carlo B Gambacorti-PasseriniMassimo Zucchetti

❮ Previous
Next ❯

Citations

Mar 20, 2013·Molecular Aspects of Medicine·Anwar A Khan, John G Quigley
Mar 3, 2012·Blood Cells, Molecules & Diseases·Dagmar PospisilovaRadek Cmejla
Nov 10, 2010·Biochimica Et Biophysica Acta·Helena HandrkovaRadek Cmejla
Apr 23, 2017·American Journal of Medical Genetics. Part a·Ebba AlkhunaiziNancy Braverman
Jan 22, 2020·The Journal of Clinical Investigation·Ryan J AshleyLionel Blanc
Dec 4, 2019·Scientific Reports·Kunwadee PalasinWilaiwan Chotigeat

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Apoptosis in Cancer

Apoptosis is an important mechanism in cancer. By evading apoptosis, tumors can continue to grow without regulation and metastasize systemically. Many therapies are evaluating the use of pro-apoptotic activation to eliminate cancer growth. Here is the latest research on apoptosis in cancer.

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.