Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 115

Similar articles for PubMed (Select 22398176)

1.

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

D'Hooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J, Bekri S.

Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003. Epub 2012 Mar 6.

PMID:
22398176
2.

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.

Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD.

Blood. 2007 Apr 15;109(8):3567-9. Epub 2006 Dec 27.

3.

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM.

Hum Mol Genet. 1999 May;8(5):743-9.

4.

RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.

Cavadini P, Biasiotto G, Poli M, Levi S, Verardi R, Zanella I, Derosas M, Ingrassia R, Corrado M, Arosio P.

Blood. 2007 Apr 15;109(8):3552-9. Epub 2006 Dec 27.

5.
6.
7.

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Hellier KD, Hatchwell E, Duncombe AS, Kew J, Hammans SR.

J Neurol Neurosurg Psychiatry. 2001 Jan;70(1):65-9.

8.

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.

9.

Mutation in the abcb7 gene causes abnormal iron and fatty acid metabolism in developing medaka fish.

Miyake A, Higashijima S, Kobayashi D, Narita T, Jindo T, Setiamarga DH, Ohisa S, Orihara N, Hibiya K, Konno S, Sakaguchi S, Horie K, Imai Y, Naruse K, Kudo A, Takeda H.

Dev Growth Differ. 2008 Dec;50(9):703-16. doi: 10.1111/j.1440-169X.2008.01068.x.

PMID:
19046159
10.

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
11.

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.

Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H, Littlewood TJ, Malcovati L, Della Porta MG, Jädersten M, Killick S, Giagounidis A, Bowen D, Hellström-Lindberg E, Cazzola M, Wainscoat JS.

PLoS One. 2008 Apr 9;3(4):e1970. doi: 10.1371/journal.pone.0001970.

12.

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
13.

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.

14.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD.

Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Erratum in: Am J Hematol. 2014 Jun;89(6):670.

15.

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.

Cazzola M, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF.

Blood. 2002 Dec 1;100(12):4236-8. Epub 2002 Aug 8.

16.

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.

Raskind WH, Wijsman E, Pagon RA, Cox TC, Bawden MJ, May BK, Bird TD.

Am J Hum Genet. 1991 Feb;48(2):335-41.

17.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.

Blood. 2003 Jul 15;102(2):698-704. Epub 2003 Mar 27.

18.

The genetics of inherited sideroblastic anemias.

Fleming MD.

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

PMID:
12382202
19.

Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.

Shimada Y, Okuno S, Kawai A, Shinomiya H, Saito A, Suzuki M, Omori Y, Nishino N, Kanemoto N, Fujiwara T, Horie M, Takahashi E.

J Hum Genet. 1998;43(2):115-22.

PMID:
9621516
20.

Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans.

González-Cabo P, Bolinches-Amorós A, Cabello J, Ros S, Moreno S, Baylis HA, Palau F, Vázquez-Manrique RP.

J Biol Chem. 2011 Jun 17;286(24):21304-14. doi: 10.1074/jbc.M110.211201. Epub 2011 Apr 4.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk