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Research

Publications: Prof Carol Shoulders

Ruiz-Cantos M, Hutchison CE, Shoulders CC ( 2021 ) . Musings from the Tribbles Research and Innovation Network . Cancers vol. 13 , ( 18 ) 4517 - 4517 .
Andreotti F, Crea F, Patti G, Shoulders CC, Navarese EP, Robishaw J, Maseri A, Hennekens CH ( 2021 ) . Family history in first degree relatives of patients with premature cardiovascular disease . International Journal of Cardiology vol. 333 , 215 - 218 .
Cegla J, Neely RDG, France M, Ferns G, Byrne CD, Halcox J, Datta D, Capps N et al. ( 2020 ) . Corrigendum to “HEART UK consensus statement on Lipoprotein(a): A call to action” [Atherosclerosis 291 (2019) 62–70](S002191501931528X)(10.1016/j.atherosclerosis.2019.10.011) . Atherosclerosis vol. 296 ,
Johnston JM, Angyal A, Bauer RC, Hamby S, Suvarna SK, Baidžajevas K, Hegedus Z, Dear TN et al. ( 2019 ) . Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion . Science Advances
Cegla J, Neely RDG, France M, Ferns G, Byrne CD, Halcox J, Datta D, Capps N et al. ( 2019 ) . HEART UK consensus statement on Lipoprotein(a): A call to action . Atherosclerosis vol. 291 , 62 - 70 .
Johnston JM, Angyal A, Bauer R, Hamby SE, Suvarna SK, Baidžajevas K, Hegedus Z, Dear NT et al. ( 2018 ) . P14 MYELOID TRIB1 PROMOTES EXPERIMENTAL ATHEROSCLEROSIS . Cardiovascular Research . vol. 114 , s4 - s4 .
Johnston J, Angyal A, Bauer R, Rader D, Shoulders C, Francis S, Kiss-Toth E ( 2018 ) . 123 Myeloid TRIB1 controls experimental atherosclerosis . Heart . Conference: Basic Science vol. 104 ,
Johnston J, Angyal A, Bauer R, Rader D, Shoulders C, Francis S, Kiss-Toth E ( 2018 ) . Myeloid Tribbles 1 Regulates Experimental Atherosclerosis . Atherosclerosis Plus . vol. 32 ,
France M, Rees A, Datta D, Thompson G, Capps N, Ferns G, Ramaswami U, Seed M et al. ( 2016 ) . HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom . Atherosclerosis
Stiles C, Barry S, Gadaleta E, Chelala C, Shoulders CC, Korbonits M ( 2015 ) . Investigation of the invasive phenotype of AIP-mutated pituitary adenomas . Endocrine Abstracts
Mothojakan NB, Stiles CE, Barry S, Shoulders CC, Korbonits M ( 2015 ) . Silencing of aryl hydrocarbon receptor protein (AIP) up-regulates the small Rho GTPase, CDC42 . Endocrine Abstracts
Aikio M, Elamaa H, Vicente D, Izzi V, Kaur I, Seppinen L, Speedy HE, Kaminska D et al. ( 2014 ) . Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition . Proc Natl Acad Sci U S A vol. 111 , ( 30 ) E3043 - E3052 .
Fryer LGD, Jones B, Duncan EJ, Hutchison CE, Ozkan T, Williams PA, Alder O, Nieuwdorp M et al. ( 2014 ) . The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis . J Biol Chem vol. 289 , ( 7 ) 4244 - 4261 .
Horswell SD, Fryer LGD, Hutchison CE, Zindrou D, Speedy HE, Town M-M, Duncan EJ, Sivapackianathan R et al. ( 2013 ) . CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients . J Lipid Res vol. 54 , ( 12 ) 3491 - 3505 .
Motazacker MM, Peter J, Treskes M, Shoulders CC, Kuivenhoven JA, Hovingh GK ( 2013 ) . Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels . Arterioscler Thromb Vasc Biol vol. 33 , ( 7 ) 1521 - 1528 .
Salm MPA, Horswell SD, Hutchison CE, Speedy HE, Yang X, Liang L, Schadt EE, Cookson WO et al. ( 2012 ) . The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism . Genome Res vol. 22 , ( 6 ) 1144 - 1153 .
Calandra S, Tarugi P, Speedy HE, Dean AF, Bertolini S, Shoulders CC ( 2011 ) . Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk . J LIPID RES vol. 52 , ( 11 ) 1885 - 1926 .
Shoulders CC ( 2010 ) . A new Thematic Series: Genetics of human lipid diseases . J LIPID RES vol. 51 , ( 7 ) 1621 - 1623 .
Ringham HE, Town MM, Horswell SD, Shoulders CC ( 2009 ) . GPIHBP1 VARIANTS CONTRIBUTE TO LIPID LEVELS IN FAMILIAL COMBINED HYPERLIPIDEMIA . ATHEROSCLEROSIS . vol. 207 , E3 - E3 .
Horswell SD, Ringham HE, Shoulders CC ( 2009 ) . New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia . J Lipid Res vol. 50 Suppl , S370 - S375 .
Shoulders CC ( 2008 ) . The FTO (fat mass and obesity-associated) gene: big in adipocyte lipolysis? . J Lipid Res vol. 49 , ( 3 ) 495 - 496 .
Lelliott CJ, Ljungberg A, Ahnmark A, William-Olsson L, Ekroos K, Elmgren A, Arnerup G, Shoulders CC et al. ( 2007 ) . Hepatic PGC-1beta overexpression induces combined hyperlipidemia and modulates the response to PPARalpha activation . Arterioscler Thromb Vasc Biol vol. 27 , ( 12 ) 2707 - 2713 .
Plaisier CL, Lusis AJ, Naoumova RP, Shoulders CC, Taskinen M-R, De Bruin TW, Pajukanta P ( 2006 ) . Fine mapping a region on chromosome 11P for familial combined hyperlipidemia . ATHEROSCLEROSIS SUPPLEMENTS . vol. 7 , 130 - 130 .
Shoulders CC, Jones B, Jones EL, Bonney SA, Williams PA, Mensenkamp AR, Towney AK, Horswell SD et al. ( 2006 ) . Genetics of intracellular lipid transport and familial combined hyperlipidemia . ATHEROSCLEROSIS SUPPLEMENTS . vol. 7 , 21 - 21 .
Shoulders CC ( 2005 ) . Cardiovascular implications of partial, tissue-specific silencing of MTP . Lipids and Atherosclerosis ,
Shoulders CC, Shelness GS ( 2005 ) . Current biology of MTP: implications for selective inhibition . Curr Top Med Chem vol. 5 , ( 3 ) 283 - 300 .
Rigby RJ, Horswell S, Haywood M, Shoulders C, Morley BJ, Vyse TJ ( 2005 ) . Differential transcript profiling identifies candidate genes in the New Zealand model of systemic lupus erythematosus, including the B-cell transcription factor, Bach2 . CLINICAL IMMUNOLOGY . vol. 115 , S18 - S19 .
Shoulders CC, Naoumova RP ( 2004 ) . USF1 implicated in the aetiology of familial combined hyperlipidaemia and the metabolic syndrome . Trends Mol Med vol. 10 , ( 8 ) 362 - 365 .
Griffin JL, Bonney SA, Mann C, Hebbachi AM, Gibbons GF, Nicholson JK, Shoulders CC, Scott J ( 2004 ) . An integrated reverse functional genomic and metabolic approach to understanding orotic acid-induced fatty liver . Physiol Genomics vol. 17 , ( 2 ) 140 - 149 .
Shoulders CC, Jones EL, Naoumova RP ( 2004 ) . Genetics of familial combined hyperlipidemia and risk of coronary heart disease . Hum Mol Genet vol. 13 Spec No 1 , R149 - R160 .
Shoulders CC, Stephens DJ, Jones B ( 2004 ) . The intracellular transport of chylomicrons requires the small GTPase, Sar1b . Curr Opin Lipidol vol. 15 , ( 2 ) 191 - 197 .
Mensenkamp AR, Van Luyn MJA, Havinga R, Teusink B, Waterman IJ, Mann CJ, Elzinga BM, Verkade HJ et al. ( 2004 ) . The transport of triglycerides through the secretory pathway of hepatocytes is impaired in apolipoprotein E deficient mice . Journal of Hepatology vol. 40 , ( 4 ) 599 - 606 .
Shoulders CC ( 2004 ) . USF1 on trial . Nature Genetics vol. 36 , ( 4 ) 322 - 323 .
Shoulders CC, Naoumova RP ( 2004 ) . The genes and proteins of atherogenic lipoprotein production . Biochemical Society Transactions vol. 32 , ( 1 ) 70 - 74 .
Shoulders CC, Naoumova RP ( 2004 ) . The genes and proteins of atherogenic lipoprotein production . Biochem Soc Trans vol. 32 , ( Pt 1 ) 70 - 74 .
Eichenbaum-Voline S, Olivier M, Jones EL, Naoumova RP, Jones B, Gau B, Patel HN, Seed M et al. ( 2004 ) . Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia . ARTERIOSCL THROM VAS vol. 24 , ( 1 ) 167 - 174 .
Naoumova RP, Bonney SA, Eichenbaum-Voline S, Patel HN, Jones B, Jones EL, Amey J, Colilla S et al. ( 2003 ) . Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia . ARTERIOSCL THROM VAS vol. 23 , ( 11 ) 2070 - 2077 .
Jones B, Jones EL, Bonney SA, Patel HN, Mensenkamp AR, Eichenbaum-Voline S, Rudling M, Myrdal U et al. ( 2003 ) . Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders . Nat Genet vol. 34 , ( 1 ) 29 - 31 .
Levy E, Stan S, Delvin E, Ménard D, Shoulders C, Garofalo C, Slight I, Seidman E et al. ( 2002 ) . Localization of microsomal triglyceride transfer protein in the Golgi. Possible role in the assembly of chylomicrons . Journal of Biological Chemistry vol. 277 , ( 19 ) 16470 - 16477 .
Griffin JL, Mann CJ, Scott J, Shoulders CC, Nicholson JK ( 2001 ) . Choline containing metabolites during cell transfection: an insight into magnetic resonance spectroscopy detectable changes . FEBS Lett vol. 509 , ( 2 ) 263 - 266 .
Roosbeek S, Vanloo B, Duverger N, Caster H, Breyne J, De Beun I, Patel H, Vandekerckhove J et al. ( 2001 ) . Three arginine residues in apolipoprotein A-I are critical for activation of lecithin:cholesterol acyltransferase . J Lipid Res vol. 42 , ( 1 ) 31 - 40 .
Read J, Anderson TA, Ritchie PJ, Vanloo B, Amey J, Levitt D, Rosseneu M, Scott J et al. ( 2000 ) . A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein . J Biol Chem vol. 275 , ( 39 ) 30372 - 30377 .
Scott J, Shoulders C, Navaratnam N, Aitman T ( 2000 ) . The genetics of the metabolic overlap syndrome . Proc Nutr Soc vol. 59 , ( 3 )
Scott J, Naoumova R, Shoulders CC, Aitman TJ ( 1999 ) . Use of biochip microarrays to discover genes for dyslipidaemia, insulin resistance and hypertension in rats and humans . Nature Genetics vol. 23 , ( Suppl 3 ) 72 - 72 .
Ritchie PJ, Decout A, Amey J, Mann CJ, Read J, Rosseneu M, Scott J, Shoulders CC ( 1999 ) . Baculovirus expression and biochemical characterization of the human microsomal triglyceride transfer protein . Biochem J vol. 338 ( Pt 2) , 305 - 310 .
Bradbury P, Mann CJ, Köchl S, Anderson TA, Chester SA, Hancock JM, Ritchie PJ, Amey J et al. ( 1999 ) . A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase . J Biol Chem vol. 274 , ( 5 ) 3159 - 3164 .
Nicodeme E, Benoist F, McLeod R, Yao Z, Scott J, Shoulders CC, Grand-Perret T ( 1999 ) . Identification of domains in apolipoprotein B100 that confer a high requirement for the microsomal triglyceride transfer protein . Journal of Biological Chemistry vol. 274 , ( 4 ) 1986 - 1993 .
Mann CJ, Anderson TA, Read J, Chester SA, Harrison GB, Köchl S, Ritchie PJ, Bradbury P et al. ( 1999 ) . The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins . J Mol Biol vol. 285 , ( 1 ) 391 - 408 .
Aitman TJ, Glazier AM, Wallace CA, Cooper LD, Norsworthy PJ, Wahid FN, Al-Majali KM, Trembling PM et al. ( 1999 ) . Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats . Nat Genet vol. 21 , ( 1 ) 76 - 83 .
Heath KE, Luong LEA, Leonard JV, Chester A, Shoulders CC, Scott J, Middleton-Price HR, Humphries SE et al. ( 1997 ) . The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24) . Prenatal Diagnosis vol. 17 , ( 12 ) 1181 - 1186 .
Shoulders CC, Grantham TT, North JD, Gaspardone A, Tomai F, de Fazio A, Versaci F, Gioffre PA et al. ( 1996 ) . Hypertriglyceridemia and the apolipoprotein CIII gene locus: lack of association with the variant insulin response element in Italian school children . Hum Genet vol. 98 , ( 5 ) 557 - 566 .
Webb JC, Patel DD, Shoulders CC, Knight BL, Soutar AK ( 1996 ) . Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism . Hum Mol Genet vol. 5 , ( 9 ) 1325 - 1331 .
Lamberg A, Jauhiainen M, Metso J, Ehnholm C, Shoulders C, Scott J, Pihlajaniemi T, Kivirikko KI ( 1996 ) . The role of protein disulphide isomerase in the microsomal triacylglycerol transfer protein does not reside in its isomerase activity . Biochemical Journal vol. 315 , ( 2 ) 533 - 536 .
Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF et al. ( 1995 ) . Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia . Am J Hum Genet vol. 57 , ( 6 ) 1298 - 1310 .
Leiper JM, Bayliss JD, Pease RJ, Brett DJ, Scott J, Shoulders CC ( 1994 ) . Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells . J Biol Chem vol. 269 , ( 35 ) 21951 - 21954 .
Crea F, Gaspardone A, Tomai F, Shoulders C, De Fazio A, Versaci F, Iamele M, Roncaglioni C et al. ( 1994 ) . Risk factors in schoolchildren associated with a family history of unheralded myocardial infarction or uncomplicated stable angina in male relatives . J Am Coll Cardiol vol. 23 , ( 6 ) 1472 - 1478 .
SHOULDERS CC, NARCISI TME, READ J, CHESTER SA, BRETT DJ, SCOTT J, ANDERSON TA, LEVITT DG et al. ( 1994 ) . THE ABETALIPOPROTEINEMIA GENE IS A MEMBER OF THE VITELLOGENIN FAMILY AND ENCODES AN ALPHA-HELICAL DOMAIN . NATURE STRUCTURAL BIOLOGY vol. 1 , ( 5 ) 285 - 286 .
Shoulders CC ( 1994 ) . Genetics and molecular biology . Current Opinion in Lipidology vol. 5 , ( 1 )
Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT, Leoni PR, Bhattacharya S et al. ( 1993 ) . Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein . Hum Mol Genet vol. 2 , ( 12 ) 2109 - 2116 .
Narcisi TM, Schotz MC, Scott J, Shoulders CC ( 1993 ) . Dinucleotide repeat polymorphisms at the lipoprotein lipase (LPL) locus . Human Genetics vol. 92 , ( 3 ) 312 - 313 .
Castro Cabezas M, de Bruin TW, de Valk HW, Shoulders CC, Jansen H, Willem Erkelens D ( 1993 ) . Impaired fatty acid metabolism in familial combined hyperlipidemia. A mechanism associating hepatic apolipoprotein B overproduction and insulin resistance . J Clin Invest vol. 92 , ( 1 ) 160 - 168 .
Shoulders CC, Narcisi TME, Jarmuz A, Brett DJ, Bayliss JD, Scott J ( 1993 ) . Characterization of genetic markers in the 5′ flanking region of the apo A1 gene . Human Genetics vol. 91 , ( 2 ) 197 - 198 .
Shoulders CC ( 1993 ) . Genetics and molecular biology: Editorial comment . Current Opinion in Lipidology vol. 4 , ( 1 ) i - i .
Shoulders CC ( 1993 ) . Genetics and molecular biology . Current Opinion in Lipidology vol. 4 , ( 1 )
Shoulders CC ( 1992 ) . Genetics and molecular biology . Current Opinion in Lipidology vol. 3 , ( 4 )
Shoulders CC ( 1991 ) . Genetics and molecular biology . Current Opinion in Lipidology vol. 2 , ( 4 )
Shoulders CC, Harry PJ, Lagrost L, White SE, Shah NF, North JD, Gilligan M, Gambert P et al. ( 1991 ) . Variation at the apo AI/CIII/A1V gene complex is associated with elevated plasma levels of apo CIII . Atherosclerosis vol. 87 , ( 2-3 ) 239 - 247 .
Shoulders CC ( 1990 ) . Genetics and molecular biology . Current Opinion in Lipidology vol. 1 , ( 6 ) 544 - 547 .
Shoulders CC ( 1990 ) . Genetics and molecular biology: Editorial comment . Current Opinion in Lipidology vol. 1 , ( 4 ) 371 - 373 .
Shoulders CC, Ball MJ, Baralle FE ( 1989 ) . Variation in the apo AI/CIII/AIV gene complex: its association with hyperlipidemia . Atherosclerosis vol. 80 , ( 2 ) 111 - 118 .
Jenner K, Sidoli A, Ball M, Rodriguez JR, Pagani F, Giudici G, Vergani C, Mann J et al. ( 1988 ) . Characterization of genetic markers in the 3' end of the apo B gene and their use in family and population studies . Atherosclerosis vol. 69 , ( 1 ) 39 - 49 .
Shoulders CC, Ball MJ, Mann JI, Baralle FE, Ferns GAA, Stocks J, Galton DJ ( 1986 ) . GENETIC MARKER IN APOLIPOPROTEIN AI/CIII GENE COMPLEX ASSOCIATED WITH HYPERCHOLESTEROLAEMIA . The Lancet vol. 328 , ( 8518 ) 1286 - 1287 .
SHOULDERS CC, BARALLE FE ( 1986 ) . GENETIC-POLYMORPHISM IN THE APOA-I/C-III COMPLEX . METHODS IN ENZYMOLOGY vol. 128 , 727 - 745 .
Shoulders CC, Baralle FE ( 1986 ) . The molecular genetics of hyperlipidemia . Horizons in biochemistry and biophysics vol. 8 , 299 - 340 .
BARALLE FE, SHOULDERS CC ( 1985 ) . APOLIPOPROTEIN GENES, DNA POLYMORPHISMS AND HYPERLIPIDEMIA . BULLETIN OF MOLECULAR BIOLOGY AND MEDICINE vol. 10 , ( 4 ) 343 - 358 .
Shelley CS, Sharpe CR, Baralle FE, Shoulders CC ( 1985 ) . Comparison of the human apolipoprotein genes. Apo AII presents a unique functional intron-exon junction . Journal of Molecular Biology vol. 186 , ( 1 ) 43 - 51 .
REES A, STOCKS J, SHARPE CR, VELLA MA, SHOULDERS CC, KATZ J, JOWETT NI, BARALLE FE et al. ( 1985 ) . DEOXYRIBONUCLEIC-ACID POLYMORPHISM IN THE APOLIPOPROTEIN-A-1-C-III GENE-CLUSTER - ASSOCIATION WITH HYPERTRIGLYCERIDEMIA . J CLIN INVEST vol. 76 , ( 3 ) 1090 - 1095 .
Shoulders CC, Myant NB, Sidoli A, Rodriguez JC, Cortese C, Baralle FE, Cortese R ( 1985 ) . Molecular cloning of human LDL apolipoprotein B cDNA. Evidence for more than one gene per haploid genome . Atherosclerosis vol. 58 , ( 1-3 ) 277 - 289 .
Sharpe CR, Sidoli A, Shelley CS, Lucero MA, Shoulders CC, Baralle FE ( 1984 ) . Human apohpoprotetas AI, AII, CII and CIII. cDNA sequences and mRNA abundance . Nucleic Acids Research vol. 12 , ( 9 ) 3917 - 3932 .
Shoulders CC, Baralle FE ( 1984 ) . Apolipoprotein genes, DNA polymorphisms and hyperlipidemia . Agents and actions. Supplements vol. 16 , 17 - 33 .
SHARPE CR, SIDOLI A, SHELLEY CS, LUCERO MA, SHOULDERS CC, BARALLE FE ( 1984 ) . HUMAN APOLIPOPROTEIN-A-I, APOLIPOPROTEIN-AII, APOLIPOPROTEIN-CII AND APOLIPOPROTEIN-CIII - CDNA SEQUENCES AND MESSENGER-RNA ABUNDANCE . NUCLEIC ACIDS RESEARCH vol. 12 , ( 9 ) 3917 - 3932 .
Baralle FE, Shoulders CC ( 1984 ) . Lipoprotein genes and hyperlipidemia . Schweizerische Medizinische Wochenschrift vol. 114 , ( 40 ) 1351 - 1358 .
REES A, STOCKS J, SCHOULDERS C, CARLSON LA, BARALLE FE, GALTON DJ ( 1984 ) . RESTRICTION ENZYME ANALYSIS OF THE APOLIPOPROTEIN A-I-GENE IN FISH EYE DISEASE AND TANGIER DISEASE . ACTA MEDICA SCANDINAVICA vol. 215 , ( 3 ) 235 - 237 .
Shoulders CC, Kornblihtt AR, Munro BS, Baralle FE ( 1983 ) . Gene structure of human apolipoprotein Al . Nucleic Acids Research vol. 11 , ( 9 ) 2827 - 2837 .
REES A, SHOULDERS CC, STOCKS J, GALTON DJ ( 1983 ) . DNA POLYMORPHISM ADJACENT TO HUMAN APOPROTEIN-A-1 GENE - RELATION TO HYPERTRIGLYCERIDEMIA . LANCET vol. 1 , ( 8322 ) 444 - 446 .
Shoulders CC, Baralle FE ( 1982 ) . Isolation of the human HDL apoprotein A1 gene . Nucleic Acids Research vol. 10 , ( 16 ) 4873 - 4882 .
Di Segni G, Carrara G, Tocchini-Valentini GR, Shoulders CC, Baralle FE ( 1981 ) . Selective in vitro transcription of one of the two alu family repeats present in the 5′ flanking region of the human ε-globin gene . Nucleic Acids Research vol. 9 , ( 24 ) 6709 - 6722 .
Baralle FE, Shoulders CC, Goodbourn S, Jeffreys A, Proudfoot NJ ( 1980 ) . The 5′ flanking region of human ε-globin gene . Nucleic Acids Research vol. 8 , ( 19 ) 4393 - 4404 .
EFSTRATIADIS A, POSAKONY JW, MANIATIS T, LAWN RM, OCONNELL C, SPRITZ RA, DERIEL JK, FORGET BG et al. ( 1980 ) . THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY . CELL vol. 21 , ( 3 ) 653 - 668 .
Baralle FE, Shoulders CC, Proudfoot NJ ( 1980 ) . The primary structure of the human ϵ-globin gene . Cell vol. 21 , ( 3 ) 621 - 626 .