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SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Finberg KE, et al. Among authors: heeney mm. Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13. Nat Genet. 2008. PMID: 18408718 Free PMC article.
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF. Wiseman DH, et al. Among authors: heeney mm. Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3. Blood. 2013. PMID: 23553769 Free PMC article.
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. Campagna DR, et al. Among authors: heeney mm. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD. Chakraborty PK, et al. Among authors: heeney mm. Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5. Blood. 2014. PMID: 25193871 Free PMC article.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: heeney mm. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
A Multinational Trial of Prasugrel for Sickle Cell Vaso-Occlusive Events.
Heeney MM, Hoppe CC, Abboud MR, Inusa B, Kanter J, Ogutu B, Brown PB, Heath LE, Jakubowski JA, Zhou C, Zamoryakhin D, Agbenyega T, Colombatti R, Hassab HM, Nduba VN, Oyieko JN, Robitaille N, Segbefia CI, Rees DC; DOVE Investigators. Heeney MM, et al. N Engl J Med. 2016 Feb 18;374(7):625-35. doi: 10.1056/NEJMoa1512021. Epub 2015 Dec 8. N Engl J Med. 2016. PMID: 26644172 Free article. Clinical Trial.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD. Lichtenstein DA, et al. Among authors: heeney mm. Blood. 2016 Oct 13;128(15):1913-1917. doi: 10.1182/blood-2016-05-719062. Epub 2016 Aug 3. Blood. 2016. PMID: 27488349 Free PMC article.
Ringed sideroblasts in β-thalassemia.
Cattivelli K, Campagna DR, Schmitz-Abe K, Heeney MM, Yaish HM, Caruso Brown AE, Kearney S, Walkovich K, Markianos K, Fleming MD, Neufeld EJ. Cattivelli K, et al. Among authors: heeney mm. Pediatr Blood Cancer. 2017 May;64(5):10.1002/pbc.26324. doi: 10.1002/pbc.26324. Epub 2016 Nov 3. Pediatr Blood Cancer. 2017. PMID: 27808451 Free PMC article.
96 results