1 | ASPR, SLC25A38
|
| Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
|
| Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S.
|
| Br J Haematol. Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23 2019
|
2 | ASPR, SLC25A38
|
| Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
|
| Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M.
|
| Blood Cells Mol Dis. Jul;71:39-44. doi: 10.1016/j.bcmd.2018.02.002. Epub 2018 Feb 22 2018
|
3 | SLC25A38
|
| SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.
|
| Dufay JN, Fernández-Murray JP, McMaster CR.
|
| G3 (Bethesda) Jun 7;7(6):1861-1873. doi: 10.1534/g3.117.041194 2017
|
4 | SLC25A38
|
| Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia.
|
| Lunetti P, Damiano F, De Benedetto G, Siculella L, Pennetta A, Muto L, Paradies E, Marobbio CM, Dolce V, Capobianco L.
|
| J Biol Chem. Sep 16;291(38):19746-59. doi: 10.1074/jbc.M116.736876. Epub 2016 Jul 30 2016
|
5 | SLC25A38
|
| Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology.
|
| Zhang C, Shi Z, Zhang L, Zhou Z, Zheng X, Liu G, Bu G, Fraser PE, Xu H, Zhang YW.
|
| J Cell Sci. Mar 1;129(5):994-1002. doi: 10.1242/jcs.176792. Epub 2016 Jan 26. 2016
|
6 | ASPR, SF3B1, SLC25A38
|
| Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
|
| Cazzola M, Malcovati L.
|
| Hematology Am Soc Hematol Educ Program. ;2015:19-25. doi: 10.1182/asheducation-2015.1.19. 2015
|
7 | SLC25A38
|
| Overexpression of SLC25A38 protein on acute lymphoblastic leukemia cells.
|
| Chen H, Lu Q, Zhang Y, Zhang C, Zhang H, Xu H.
|
| Oncol Lett. May;7(5):1422-1426. doi: 10.3892/ol.2014.1947. Epub 2014 Mar 7 2014
|
8 | ASPR, SLC25A38
|
| 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. Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10 2011
|
9 | ASPR, SLC25A38
|
| 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 41(6):651-3. Epub 2009 May 3.
2009
|
10 | SLC25A33, SLC25A34, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, UCP2
|
| Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
|
| Haitina T, Lindblom J, Renstrom T, Fredriksson R.
|
| Genomics 88(6):779-90. Epub 2006 Sep 1. 2006
|