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Items: 1 to 20 of 39

1.

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
2.

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.

Nikpour M, Scharenberg C, Liu A, Conte S, Karimi M, Mortera-Blanco T, Giai V, Fernandez-Mercado M, Papaemmanuil E, Högstrand K, Jansson M, Vedin I, Stephen Wainscoat J, Campbell P, Cazzola M, Boultwood J, Grandien A, Hellström-Lindberg E.

Leukemia. 2013 Apr;27(4):889-96. doi: 10.1038/leu.2012.298. Epub 2012 Oct 16.

3.

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
4.

ABC transporters, mechanisms and biology: an overview.

Holland IB.

Essays Biochem. 2011 Sep 7;50(1):1-17. doi: 10.1042/bse0500001. Review.

PMID:
21967049
5.

Frequent pathway mutations of splicing machinery in myelodysplasia.

Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann WK, Miyawaki S, Sugano S, Haferlach C, Koeffler HP, Shih LY, Haferlach T, Chiba S, Nakauchi H, Miyano S, Ogawa S.

Nature. 2011 Sep 11;478(7367):64-9. doi: 10.1038/nature10496.

PMID:
21909114
6.

Evolution of ABC transporters by gene duplication and their role in human disease.

Moitra K, Dean M.

Biol Chem. 2011 Jan;392(1-2):29-37. doi: 10.1515/BC.2011.006. Review.

PMID:
21194360
7.

Erythropoiesis and iron sulfur cluster biogenesis.

Ye H, Rouault TA.

Adv Hematol. 2010;2010. pii: 329394. doi: 10.1155/2010/329394. Epub 2010 Aug 31.

8.

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J.

Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001.

9.

Frataxin and mitochondrial FeS cluster biogenesis.

Stemmler TL, Lesuisse E, Pain D, Dancis A.

J Biol Chem. 2010 Aug 27;285(35):26737-43. doi: 10.1074/jbc.R110.118679. Epub 2010 Jun 3. Review.

10.

Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Ye H, Rouault TA.

Biochemistry. 2010 Jun 22;49(24):4945-56. doi: 10.1021/bi1004798. Review.

11.

Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.

Kakhlon O, Breuer W, Munnich A, Cabantchik ZI.

Can J Physiol Pharmacol. 2010 Mar;88(3):187-96. doi: 10.1139/Y09-128. Review.

PMID:
20393584
12.

Iron-sulfur proteins in health and disease.

Sheftel A, Stehling O, Lill R.

Trends Endocrinol Metab. 2010 May;21(5):302-14. doi: 10.1016/j.tem.2009.12.006. Epub 2010 Jan 8. Review.

PMID:
20060739
13.

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.

14.

The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

Calmels N, Schmucker S, Wattenhofer-Donzé M, Martelli A, Vaucamps N, Reutenauer L, Messaddeq N, Bouton C, Koenig M, Puccio H.

PLoS One. 2009 Jul 24;4(7):e6379. doi: 10.1371/journal.pone.0006379.

15.

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
16.

Mitochondrial ABC proteins in health and disease.

Zutz A, Gompf S, Schägger H, Tampé R.

Biochim Biophys Acta. 2009 Jun;1787(6):681-90. doi: 10.1016/j.bbabio.2009.02.009. Epub 2009 Feb 24. Review.

17.

The wobbly child: an approach to inherited ataxias.

Bernard G, Shevell M.

Semin Pediatr Neurol. 2008 Dec;15(4):194-208. doi: 10.1016/j.spen.2008.10.011.

PMID:
19073328
18.

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
19.

Iron-sulfur cluster biogenesis and human disease.

Rouault TA, Tong WH.

Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008. Epub 2008 Jul 5. Review.

20.

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.

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