Literature DB >> 24624355

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.

Soo Young Moon1, In-Jae Jun1, Ji-Eun Kim1, Seung Jun Lee1, Hyun Kyung Kim1, Sung-Soo Yoon2.   

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Year:  2014        PMID： 24624355      PMCID： PMC3948832          DOI： 10.3343/alm.2014.34.2.159

Source DB:  PubMed          Journal:  Ann Lab Med        ISSN： 2234-3806            Impact factor:   3.464


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  11 in total

Review 1.  Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

Authors:  Mark D Fleming
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2011

2.  Late-onset X-linked sideroblastic anemia following hemodialysis.

Authors:  Kazumichi Furuyama; Hideo Harigae; Chiharu Kinoshita; Toshihiko Shimada; Kazuko Miyaoka; Chiaki Kanda; Yoshifumi Maruyama; Shigeki Shibahara; Shigeru Sassa
Journal:  Blood       Date:  2003-01-16       Impact factor: 22.113

3.  5-Aminolevulinic acid synthase: mechanism, mutations and medicine.

Authors:  Peter M Shoolingin-Jordan; Sooad Al-Daihan; Dmitriy Alexeev; Robert L Baxter; Sylvia S Bottomley; I Donald Kahari; Ipsita Roy; Muhammad Sarwar; Lindsay Sawyer; Shu-Fen Wang
Journal:  Biochim Biophys Acta       Date:  2003-04-11

Review 4.  The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

Authors:  A May; D F Bishop
Journal:  Haematologica       Date:  1998-01       Impact factor: 9.941

5.  Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.

Authors:  M Cazzola; A May; G Bergamaschi; P Cerani; V Rosti; D F Bishop
Journal:  Blood       Date:  2000-12-15       Impact factor: 22.113

6.  Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

Authors:  Isabel Astner; Jörg O Schulze; Joop van den Heuvel; Dieter Jahn; Wolf-Dieter Schubert; Dirk W Heinz
Journal:  EMBO J       Date:  2005-08-25       Impact factor: 11.598

7.  Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.

Authors:  Sarah Ducamp; Caroline Kannengiesser; Mohamed Touati; Loïc Garçon; Agnès Guerci-Bresler; Jean François Guichard; Christiane Vermylen; Joaquim Dochir; Hélène A Poirel; Fanny Fouyssac; Ludovic Mansuy; Geneviève Leroux; Gérard Tertian; Robert Girot; Hermann Heimpel; Thomas Matthes; Neila Talbi; Jean-Charles Deybach; Carole Beaumont; Hervé Puy; Bernard Grandchamp
Journal:  Hum Mutat       Date:  2011-02-24       Impact factor: 4.878

Review 8.  Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis.

Authors:  Achille Iolascon; Luigia De Falco; Carole Beaumont
Journal:  Haematologica       Date:  2009-01-30       Impact factor: 9.941

Review 9.  Recent advances in the understanding of inherited sideroblastic anaemia.

Authors:  Clara Camaschella
Journal:  Br J Haematol       Date:  2008-07-14       Impact factor: 6.998

10.  Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Authors:  P D Cotter; A May; E J Fitzsimons; T Houston; B E Woodcock; A I al-Sabah; L Wong; D F Bishop
Journal:  J Clin Invest       Date:  1995-10       Impact factor: 14.808
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