| 1 | SPH3, SPTA1
|
| Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
|
| Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG.
|
| Haematologica 99(9):e168-70. doi: 10.3324/haematol.2014.110312. Epub 2014 Jun 3. No abstract available.
2014
|
| 2 | SPTA1, TAF3
|
| Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
|
| Pistis G, Okonkwo SU, Traglia M, Sala C, Shin SY, Masciullo C, Buetti I, Massacane R, Mangino M, Thein SL, Spector TD, Ganesh S; CHARGE Consortium Hematology Working, Pirastu N, Gasparini P, Soranzo N, Camaschella C, Hart D, Green MR, Toniolo D.
|
| PLoS One 8(7):e69206. doi: 10.1371/journal.pone.0069206. Print 2013.
2013
|
| 3 | EL2, SPTA1
|
| Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.
|
| Swierczek S, Agarwal AM, Naidoo K, Lorenzo FR, Whisenant J, Nussenzveig RH, Agarwal N, Coetzer TL, Prchal JT.
|
| Haematologica 98(12):1972-9. doi: 10.3324/haematol.2013.086629. Epub 2013 Sep 27.
2013
|
| 4 | SPTA1
|
| The carboxyterminal EF domain of erythroid alpha-spectrin is necessary for optimal spectrin-actin binding.
|
| Korsgren C, Lux SE.
|
| Blood 116(14):2600-7. doi: 10.1182/blood-2009-12-260612. Epub 2010 Jun 28.
2010
|
| 5 | SPTA1
|
| Association studies of erythroid alpha-spectrin at the tetramerization site.
|
| Lam VQ, Antoniou C, Rolius R, Fung LW.
|
| Br J Haematol 147(3):392-5. doi: 10.1111/j.1365-2141.2009.07876.x. Epub 2009 Aug 31.
2009
|
| 6 | SPTA1
|
| An insulator with barrier-element activity promotes alpha-spectrin gene expression in erythroid cells.
|
| Gallagher PG, Nilson DG, Steiner LA, Maksimova YD, Lin JY, Bodine DM.
|
| Blood 113(7):1547-54. doi: 10.1182/blood-2008-06-164954. Epub 2008 Nov 13.
2009
|
| 7 | SPTA1
|
| Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site.
|
| Gaetani M, Mootien S, Harper S, Gallagher PG, Speicher DW.
|
| Blood 111(12):5712-20. Epub 2008 Jan 24.
2008
|
| 8 | SPTA1
|
| Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis.
|
| Tolpinrud W, Maksimova YD, Forget BG, Gallagher PG.
|
| Haematologica 93(11):1752-4. Epub 2008 Sep 24. No abstract available.
2008
|
| 9 | HPP, SPTA1
|
| A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
|
| Costa DB, Lozovatsky L, Gallagher PG, Forget BG.
|
| Blood 106(13):4367-9. Epub 2005 Sep 8.
2005
|
| 10 | EL1, EL2, EL3, EL4, EPB41, SPTA1, SPTB
|
| Hereditary elliptocytosis: spectrin and protein 4.1R.
|
| Gallagher PG.
|
| Semin Hematol 41(2):142-64. Review. 2004
|
| 11 | NFE2, SPTA1
|
| Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteins.
|
| Boulanger L, Sabatino DE, Wong EY, Cline AP, Garrett LJ, Garbarz M, Dhermy D, Bodine DM, Gallagher PG.
|
| J Biol Chem 277(44):41563-70. Epub 2002 Aug 23. 2002
|
| 12 | HPP, SPTA1
|
| Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.
|
| Fournier CM, Nicolas G, Gallagher PG, Dhermy D, Grandchamp B, Lecomte MC.
|
| Blood 89(12):4584-90. 1997
|
| 13 | EL2, HPP, SPTA1
|
| Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin : application to the study of hereditary elliptocytosis and pyropoikilocytosis.
|
| Gallagher PG, et al.
|
| Am J Hum Genet 59 : 351-359. 1996
|
| 14 | SPTA1, EL2
|
| Mild elliptocytosis assoiated with the alpha34 Arg-Trp mutation in spectrin genova (alpha I/74).
|
| Perrotta S, et al.
|
| Blood 83 : 3346-3349. 1994
|
| 15 | EL2, SPTA1
|
| A variant of spectrin low-expression allele alpha LELY carrying a hereditay elliptocytosis mutation in codon 28.
|
| Randon J, et al.
|
| Br J Haematol 88 : 534-540. 1994
|
| 16 | EL2, SPTA1
|
| Identification of three novel spectrin alphaI/74 mutations in hereditary elliptocytosis : further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
|
| Parquet N, et al.
|
| Blood 84 : 303-308. 1994
|
| 17 | EL2, HPP, SPTA1
|
| Severe poikilocytosis associated with a de novo alpha-28 Arg--Cys mutation in spectrin.
|
| Lorenzo F, et al.
|
| Br J Haematol 83 : 152-157. 1993
|
| 18 | HPP, EL2, SPTA1
|
| An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha-V/41 polymorphism.
|
| Dalla Venezia N, et al.
|
| Hum Genet 90 : 641-644. 1993
|
| 19 | SPTA1
|
| Low expression allele alpha-LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.
|
| Wilmotte R, et al.
|
| J Clin Invest 91 : 2091-2096. 1993
|
| 20 | SPTA1, EL2
|
| A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.
|
| Alloisio N, et al.
|
| Blood 81 : 2791-2798. 1993
|
| 21 | SPH3, SPTA1
|
| Spectrin alphaIIa variant in dominant and non-dominant spherocytosis.
|
| Boivin P, et al.
|
| Hum Genet 92 : 153-156. 1993
|
| 22 | EL2, SPTA1
|
| Elliptocytogenic alpha1/36 spectrin Sfax lacks nine amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5'-splice site in exon 8 of spectrin alpha-gene.
|
| Baklouti F, et al.
|
| Blood 79 : 2464-2470. 1992
|
| 23 | SPTA1
|
| Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus.
|
| Hentati A, et al.
|
| Hum Mol Genet 1 : 218. 1992
|
| 24 | SPTA1
|
| Dinucleotide repeat polymorphism at the human erythroid alpha-spectrin (SPTA1) mRNA gene detected using PCR.
|
| Bodfish P, et al.
|
| Hum Mol Genet 1 : 287. 1992
|
| 25 | SPTA1
|
| Sp-alpha-V/41: a common spectrin polymorphism at the alphaIV-alphaV domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.
|
| Alloisio N, et al.
|
| J Clin Invest 87 : 2169-2177. 1991
|
| 26 | SPTA1
|
| Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha-1/74 in hereditary elliptocytosis.
|
| Coetzer TL, et al.
|
| J Clin Invest 88 : 743-749. 1991
|
| 27 | SPTA1
|
| Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis.
|
| Whitfield CF, et al.
|
| Blood 78 : 3043-3051. 1991
|
| 28 | F13B, REN, SPTA1
|
| The B subunit of coagulation factor XIII is linked to renin and the Duffy blood group to alpha-spectrin on human chromosome 1.
|
| Griffiths LR, Board PG, Zwi MB, Morris BJ, McLeod JG, Nicholson GA.
|
| Hum Hered 39 : 107-109. 1989
|
| 29 | EL1, EL2, EL4, EPB41, SPH1, SPH2, SPH3, SPTA1, SPTB
|
| Hereditary disorders of the red cell membrane skeleton.
|
| Davies KA, et al.
|
| Trends Genet 5 : 222-227. 1989
|
| 30 | SPTA1, EL2
|
| Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa : insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.
|
| Roux AF, et al.
|
| Blood 73 : 2196-2201. 1989
|
| 31 | F5TPH, SPTA1
|
| Mapping the genes for erythrocytic alpha-spectrin 1 (SPTA1) and coagulation factor V (F5).
|
| McAlpine PJ, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1042. 1989
|
| 32 | MUC1, SPTA1
|
| Close linkage of PUM and SPTA within chromosome band 1q21.
|
| Middleton-Price H, Gendler S, Malcolm S.
|
| Ann Hum Genet 52 : 273-278. 1988
|
| 33 | SPTA1
|
| Xba I polymorphisms in the 5' region of human erythrocyte alpha spectrin gene (Spna).
|
| Kotula L, Curtis P.
|
| Nucleic Acids Res 16 : 10950. 1988
|
| 34 | ACKR1, SPTA1
|
| The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.
|
| Raeymaekers P, et al.
|
| Hum Genet 78 : 76-78. 1988
|
| 35 | REN, PTPRC, LAMC1, APOA2, SPTA1
|
| Establishment of a molecular genetic map of distal mouse chromosome 1: further definition of a conserved linkage group syntenic with human chromosome 1q.
|
| Seldin MF, Morse HC, LeBoeuf RC, Steinberg AD.
|
| Genomics 2(1):48-56. 1988
|
| 36 | SPTA1
|
| The alpha-spectrin gene is on chromosome 1 in mouse and man.
|
| Huebner K, Palumbo AP, Isobe M, Kozak CA, Monaco S, Rovera G, Croce CM, Curtis PJ.
|
| Proc Natl Acad Sci U S A 82 : 3790-3793. 1985
|