| 1 | ANK1, ATP2A1, SLN
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| Interactions between small ankyrin 1 and sarcolipin coordinately regulate activity of the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1).
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| Desmond PF, Labuza A, Muriel J, Markwardt ML, Mancini AE, Rizzo MA, Bloch RJ.
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| J Biol Chem 292(26):10961-10972. doi: 10.1074/jbc.M117.783613. Epub 2017 May 9.
2017
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| 2 | ANK1, ATP2A1
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| Identification of Small Ankyrin 1 as a Novel Sarco(endo)plasmic Reticulum Ca2+-ATPase 1 (SERCA1) Regulatory Protein in Skeletal Muscle.
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| Desmond PF, Muriel J, Markwardt ML, Rizzo MA, Bloch RJ.
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| J Biol Chem 290(46):27854-67. doi: 10.1074/jbc.M115.676585. Epub 2015 Sep 24.
2015
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| 3 | ANK1, SPTBN2
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| β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
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| Clarkson YL, Perkins EM, Cairncross CJ, Lyndon AR, Skehel PA, Jackson M.
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| Hum Mol Genet 23(14):3875-82. doi: 10.1093/hmg/ddu103. Epub 2014 Mar 6.
2014
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| 4 | ANK1, SLC4A1
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| Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte membrane.
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| Stefanovic M, Puchulu-Campanella E, Kodippili G, Low PS.
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| Biochem J 449(1):143-50. doi: 10.1042/BJ20120869.
2013
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| 5 | ANK1, DEL8PP
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| A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.
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| Miya K, Shimojima K, Sugawara M, Shimada S, Tsuri H, Harai-Tanaka T, Nakaoka S, Kanegane H, Miyawaki T, Yamamoto T.
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| Gene 506(1):146-9. doi: 10.1016/j.gene.2012.06.086. Epub 2012 Jul 4. Review.
2012
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| 6 | ANK1
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| A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter.
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| Yocum AO, Steiner LA, Seidel NE, Cline AP, Rout ED, Lin JY, Wong C, Garrett LJ, Gallagher PG, Bodine DM.
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| Blood 120(17):3586-93. doi: 10.1182/blood-2012-08-450262. Epub 2012 Sep 11.
2012
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| 7 | ANK1, KCTD6
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| Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.
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| Lange S, Perera S, Teh P, Chen J.
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| Mol Biol Cell 23(13):2490-504. doi: 10.1091/mbc.E12-01-0052. Epub 2012 May 9.
2012
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| 8 | ANK1, SLC4A1
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| Ankyrin and band 3 differentially affect expression of membrane glycoproteins but are not required for erythroblast enucleation.
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| Ji P, Lodish HF.
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| Biochem Biophys Res Commun 417(4):1188-92. doi: 10.1016/j.bbrc.2011.12.105. Epub 2011 Dec 27. 2012
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| 9 | ANK1
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| Integrity of the network sarcoplasmic reticulum in skeletal muscle requires small ankyrin 1.
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| Ackermann MA, Ziman AP, Strong J, Zhang Y, Hartford AK, Ward CW, Randall WR, Kontrogianni-Konstantopoulos A, Bloch RJ.
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| J Cell Sci 124(Pt 21):3619-30. doi: 10.1242/jcs.085159. Epub 2011 Nov 1.
2011
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| 10 | ANK1
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| Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter.
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| Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM.
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| Mol Cell Biol 30(14):3493-502. Epub 2010 May 17.
2010
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| 11 | ANK1, OBSCN
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| Characterization and comparison of two binding sites on obscurin for small ankyrin 1.
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| Busby B, Willis CD, Ackermann MA, Kontrogianni-Konstantopoulos A, Bloch RJ.
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| Biochemistry 49(46):9948-56. Epub 2010 Nov 1.
2010
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| 12 | ANK1, SPH1
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| Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.
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| Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM.
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| J Clin Invest 120(12):4453-65. doi: 10.1172/JCI42240. Epub 2010 Nov 22.
2010
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| 13 | ANK1
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| Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant.
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| Rank G, Sutton R, Marshall V, Lundie RJ, Caddy J, Romeo T, Fernandez K, McCormack MP, Cooke BM, Foote SJ, Crabb BS, Curtis DJ, Hilton DJ, Kile BT, Jane SM.
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| Blood 113(14):3352-62. Epub 2009 Jan 28.PMID: 19179303 2009
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| 14 | ANK1
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| Ankyrin facilitates intracellular trafficking of alpha1-Na+-K+-ATPase in polarized cells.
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| Stabach PR, Devarajan P, Stankewich MC, Bannykh S, Morrow JS.
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| Am J Physiol Cell Physiol 295(5):C1202-14. Epub 2008 Sep 3.PMID: 18768923 2008
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| 15 | ANK1
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| Structural insight into an ankyrin-sensitive lipid-binding site of erythroid beta-spectrin.
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| Czogalla A, Jaszewski AR, Diakowski W, Bok E, Jezierski A, Sikorski AF.
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| Mol Membr Biol 24(3):215-24. 2007
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| 16 | OBSCN, ANK1
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| Mapping the binding site on small ankyrin 1 for obscurin.
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| Borzok MA, Catino DH, Nicholson JD, Kontrogianni-Konstantopoulos A, Bloch RJ.
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| J Biol Chem 282(44):32384-96. Epub 2007 Aug 25. 2007
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| 17 | ANK1
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| Lipid-binding role of betaII-spectrin ankyrin-binding domain.
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| Bok E, Plazuk E, Hryniewicz-Jankowska A, Chorzalska A, Szmaj A, Dubielecka PM, Stebelska K, Diakowski W, Lisowski M, Langner M, Sikorski AF.
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| Cell Biol Int 31(12):1482-94. Epub 2007 Jul 15.PMID: 17716929 2007
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| 18 | ANK1, SPH1
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| [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]
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| Camacho-Torres AL, S‡nchez-L—pez JY, Mesa-Cornejo VM, Ibarra B, Perea-D’az FJ.
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| Gac Med Mex 142(5):435-7. Spanish. 2006
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| 19 | OBSCN, ANK1
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| Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum.
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| Armani A, Galli S, Giacomello E, Bagnato P, Barone V, Rossi D, Sorrentino V.
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| Exp Cell Res 312(18):3546-58. Epub 2006 Aug 16. 2006
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| 20 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| New case of contiguous gene syndrome at chromosome 8p11.2p12.
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| Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
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| Am J Med Genet A 136A(2):221-222. 2005
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| 21 | ANK1, SPH1
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| A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.
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| Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM.
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| Hum Mol Genet 14(17):2501-9. Epub 2005 Jul 21. 2005
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| 22 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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| Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
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| Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
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| 23 | OBSCN, ANK1
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| Obscurin is a ligand for small ankyrin 1 in skeletal muscle.
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| Kontrogianni-Konstantopoulos A, Jones EM, Van Rossum DB, Bloch RJ.
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| Mol Biol Cell 14(3):1138-48. 2003
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| 24 | ANK1
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| The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter.
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| Gallagher PG, Romana M, Tse WT, Lux SE, Forget BG.
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| Blood 96(3):1136-43. 2000
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| 25 | ANK1, SPH1
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| Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis : three new ANK1 variants : ankyrins Bari, Napoli II and Anzio.
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| Randon J, et al.
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| Br J Haematol 96 : 500-506. 1997
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| 26 | ANK1, SPH1
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| Ankyrin Bugey : a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.
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| MorlŽ L, et al.
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| Am J Hematol 54 : 242-248. 1997
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| 27 | ANK1
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| Structure and organization of the human ankyrin-1 gene. Basis for complexity of premRNA processing.
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| Gallagher PG, Tse WT, Scarpa AL, Lux SE, Forget BG.
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| J Biol Chem 272(31):19220-8. 1997
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| 28 | ANK1, SPH1
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| Ankyrin Napoli : a De novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.
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| Miraglia del Giudice E, et al.
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| Br J Haematol 93 : 828-834. 1996
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| 29 | ANK1, SPH1
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| Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
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| Eber SW, et al.
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| Nat Genet 13 : 214-218. 1996
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| 30 | ANK1, SPH1
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| A nonsense mutation 1669Glu-Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.
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| Jarolim P, et al.
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| J Clin Invest 95 : 941-947. 1995
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| 31 | ANK1, SPH1
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| Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
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| Okamoto N, et al.
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| Am J Med Genet 58 : 225-229. 1995
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| 32 | ANK1
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| Polymerase chain reaction analysis of an Ncol polymorphism of the human erythrocyte ankyrin gene letter.
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| Gallagher PG, et al.
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| Blood 80 : 1856-1857. 1992
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| 33 | ANK1
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| Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1).
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| Polymeropoulos MH, et al.
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| Nucleic Acids Res 19 : 969. 1991
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| 34 | ANK1, SPH1
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| Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.
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| Lux SE, et al.
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| Nature 345 : 736-739. 1990
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| 35 | ANK1, SPH1
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| Dominant hereditary spherocytosis (HS) is linked to the gene for the erythrocyte membrane protein ankyrin.
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| Forget BG, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 999. 1989
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