Literature DB >> 24323989

Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.

Gang Liu1, Shanshan Guo, Huiyuan Kang, Fuming Zhang, Yulin Hu, Lu Wang, Mianyang Li, Yongxin Ru, Clara Camaschella, Bing Han, Guangjun Nie.   

Abstract

Entities:  

Keywords:  Chinese population; congenital sideroblastic anemia; genotype; mutation; phenotype

Mesh：

Substances：

Year:  2013        PMID： 24323989      PMCID： PMC3856979          DOI： 10.3324/haematol.2013.095513

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


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  5 in total

Review 1.  Pre-mRNA splicing during transcription in the mammalian system.

Authors:  Amy Pandya-Jones
Journal:  Wiley Interdiscip Rev RNA       Date:  2011-05-02       Impact factor: 9.957

Review 2.  Hereditary sideroblastic anemia: pathophysiology and gene mutations.

Authors:  Hideo Harigae; Kazumichi Furuyama
Journal:  Int J Hematol       Date:  2010-09-17       Impact factor: 2.490

3.  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

4.  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

5.  Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

Authors:  Caroline Kannengiesser; Mayka Sanchez; Marion Sweeney; Gilles Hetet; Briedgeen Kerr; Erica Moran; Jose L Fuster Soler; Karim Maloum; Thomas Matthes; Caroline Oudot; Axelle Lascaux; Corinne Pondarré; Julian Sevilla Navarro; Sudharma Vidyatilake; Carole Beaumont; Bernard Grandchamp; Alison May
Journal:  Haematologica       Date:  2011-03-10       Impact factor: 9.941
  5 in total
  6 in total

1.  Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.

Authors:  Wenbin An; Jingliao Zhang; Lixian Chang; Yingchi Zhang; Yang Wan; Yuanyuan Ren; Deyun Niu; Jian Wu; Xiaofan Zhu; Ye Guo
Journal:  J Hematol Oncol       Date:  2015-05-20       Impact factor: 17.388

2.  Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population.

Authors:  Wenqian Zhang; Joe Meehan; Zhenqiang Su; Hui Wen Ng; Mao Shu; Heng Luo; Weigong Ge; Roger Perkins; Weida Tong; Huixiao Hong
Journal:  BMC Bioinformatics       Date:  2014-10-21       Impact factor: 3.169

3.  Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Authors:  Manuel Méndez; María-Isabel Moreno-Carralero; Marta Morado-Arias; María-Cristina Fernández-Jiménez; Silvia de la Iglesia Iñigo; María-José Morán-Jiménez
Journal:  Mol Genet Genomic Med       Date:  2016-01-13       Impact factor: 2.183

4.  Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.

Authors:  Min Hee Kim; Sanjay Shah; Sylvia S Bottomley; Niketa C Shah
Journal:  Clin Case Rep       Date:  2018-08-01

5.  Sideroblastic anaemia in a patient with sickle cell disease.

Authors:  Nikitha Vobugari; Mansi Chaturvedi; Ilana Miriam Schlam-Camhi; Hedy Patricia Smith
Journal:  BMJ Case Rep       Date:  2022-02-08

Review 6.  SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Authors:  Matthew M Heeney; Simon Berhe; Dean R Campagna; Joseph H Oved; Peter Kurre; Peter J Shaw; Juliana Teo; Mayada A Shanap; Hoda M Hassab; Bertil E Glader; Sanjay Shah; Ayami Yoshimi; Afshin Ameri; Joseph H Antin; Jeanne Boudreaux; Michael Briones; Kathryn E Dickerson; Conrad V Fernandez; Roula Farah; Henrik Hasle; Sioban B Keel; Timothy S Olson; Jacquelyn M Powers; Melissa J Rose; Akiko Shimamura; Sylvia S Bottomley; Mark D Fleming
Journal:  Hum Mutat       Date:  2021-08-05       Impact factor: 4.878
  6 in total

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