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Items: 1 to 20 of 135

1.

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ.

Pediatr Blood Cancer. 2010 Feb;54(2):273-8. doi: 10.1002/pbc.22244.

2.

Pathophysiology and genetic mutations in congenital sideroblastic anemia.

Fujiwara T, Harigae H.

Pediatr Int. 2013 Dec;55(6):675-9. doi: 10.1111/ped.12217. Review.

PMID:
24003969
3.

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, Manabe A, Ito E, Ozawa K, Kojima S, Ogawa S, Harigae H.

Ann Hematol. 2013 Jan;92(1):1-9. doi: 10.1007/s00277-012-1564-5. Epub 2012 Sep 16.

4.

Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.

Camaschella C.

Semin Hematol. 2009 Oct;46(4):371-7. doi: 10.1053/j.seminhematol.2009.07.001. Review.

PMID:
19786205
5.

New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.

Kucerova J, Horvathova M, Mojzikova R, Belohlavkova P, Cermak J, Divoky V.

Acta Haematol. 2011;125(4):193-7. doi: 10.1159/000322870. Epub 2011 Jan 20.

PMID:
21252495
6.

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

Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A.

Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10.

7.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME.

Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3.

PMID:
19412178
8.

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

An W, Zhang J, Chang L, Zhang Y, Wan Y, Ren Y, Niu D, Wu J, Zhu X, Guo Y.

J Hematol Oncol. 2015 May 20;8:55. doi: 10.1186/s13045-015-0154-0.

9.

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

Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B.

Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24.

PMID:
21309041
10.

Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts).

Steensma DP, Hecksel KA, Porcher JC, Lasho TL.

Leuk Res. 2007 May;31(5):623-8. Epub 2006 Jul 25.

PMID:
16870250
11.

The molecular basis of the sideroblastic anemias.

Fitzsimons EJ, May A.

Curr Opin Hematol. 1996 Mar;3(2):167-72. Review.

PMID:
9372069
12.

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.

Kaneko K, Furuyama K, Fujiwara T, Kobayashi R, Ishida H, Harigae H, Shibahara S.

Haematologica. 2014 Feb;99(2):252-61. doi: 10.3324/haematol.2013.085449. Epub 2013 Aug 9.

13.

Recent advances in the understanding of inherited sideroblastic anaemia.

Camaschella C.

Br J Haematol. 2008 Oct;143(1):27-38. doi: 10.1111/j.1365-2141.2008.07290.x. Epub 2008 Jul 14. Review.

PMID:
18637800
14.

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

Fernández-Murray JP, Prykhozhij SV, Dufay JN, Steele SL, Gaston D, Nasrallah GK, Coombs AJ, Liwski RS, Fernandez CV, Berman JN, McMaster CR.

PLoS Genet. 2016 Jan 28;12(1):e1005783. doi: 10.1371/journal.pgen.1005783. eCollection 2016 Jan.

15.

Hereditary sideroblastic anemia: pathophysiology and gene mutations.

Harigae H, Furuyama K.

Int J Hematol. 2010 Oct;92(3):425-31. doi: 10.1007/s12185-010-0688-4. Epub 2010 Sep 17. Review.

PMID:
20848343
16.

Biology of sideroblastic anemia.

Harigae H.

Rinsho Ketsueki. 2017;58(4):347-352. doi: 10.11406/rinketsu.58.347. Japanese.

PMID:
28484165
17.

Effect of 5-aminolevulinic acid on erythropoiesis: a preclinical in vitro characterization for the treatment of congenital sideroblastic anemia.

Fujiwara T, Okamoto K, Niikuni R, Takahashi K, Okitsu Y, Fukuhara N, Onishi Y, Ishizawa K, Ichinohasama R, Nakamura Y, Nakajima M, Tanaka T, Harigae H.

Biochem Biophys Res Commun. 2014 Nov 7;454(1):102-8. doi: 10.1016/j.bbrc.2014.10.050. Epub 2014 Oct 18.

PMID:
25450364
18.

Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.

LeBlanc MA, Bettle A, Berman JN, Price VE, Pambrun C, Yu Z, Tiller M, McMaster CR, Fernandez CV.

Pediatr Blood Cancer. 2016 Jul;63(7):1307-9. doi: 10.1002/pbc.25981. Epub 2016 Apr 1.

PMID:
27038157
19.

The genetics of inherited sideroblastic anemias.

Fleming MD.

Semin Hematol. 2002 Oct;39(4):270-81. Review.

PMID:
12382202
20.

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.

Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS.

Blood Cells Mol Dis. 2006 Jul-Aug;37(1):40-5. Epub 2006 Jun 2.

PMID:
16735131

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