β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

[57] Sequencing end-labeled DNA with base-specific chemical cleavages

Maxam, A. M., & Gilbert, W. (1980) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(80)65059-9 · Cited by 13,943

Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids

Berk, A. J., & Sharp, P. A. (1977) · Cell · doi:10.1016/0092-8674(77)90272-0 · Cited by 2,818

Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA

Auffray, C., & Rougeon, F. (1980) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1980.tb06030.x · Cited by 2,626

Chromosomal Subunits in Active Genes Have an Altered Conformation: Globin genes are digested by deoxyribonuclease I in red blood cell nuclei but not in fibroblast nuclei.

Weintraub, H., & Groudine, M. (1976) · Science · doi:10.1126/science.948749 · Cited by 1,809

Transformation of mammalian cells with genes from procaryotes and eucaryotes

Wigler, M. H., Sweet, R. W., Sim, G.-K., Wold, B. J., Pellicer, À., Lacy, E., Maniatis, T., Silverstein, S. J., & Axel, R. (1979) · Cell · doi:10.1016/0092-8674(79)90093-x · Cited by 1,407

Mapping of RNA by a modification of the Berk-Sharp procedure: the 5′ termini of 15 S β-globin mRNA precursor and mature 10 S β-globin mRNA have identical map coordinates

Weaver, R. F., & Weissmann, C. (1979) · Nucleic Acids Research · doi:10.1093/nar/7.5.1175 · Cited by 1,219

DNA methylation in the human γδβ-globin locus in erythroid and nonerythroid tissues

der Ploeg, L. H. T. V., & Flavell, R. A. (1980) · Cell · doi:10.1016/0092-8674(80)90086-0 · Cited by 632

The nucleotide sequence of the human β-globin gene

Lawn, R. M. (1980) · Cell · doi:10.1016/0092-8674(80)90428-6 · Cited by 485

The chromatin structure of specific genes: I. Evidence for higher order domains of defined DNA sequence

Wu, C., Bingham, P. M., Livak, K. J., Holmgren, R. A., & Elgin, S. C. R. (1979) · Cell · doi:10.1016/0092-8674(79)90095-3 · Cited by 437

A 200 base pair region at the 5$prime; end of the chicken adult $beta;-globin gene is accessible to nuclease digestion

McGhee, J. D. (1981) · Cell · doi:10.1016/0092-8674(81)90359-7 · Cited by 432

Chromosomal Position and Specific Demethylation in Enhancer Sequences of Germ Line-Transmitted Retroviral Genomes During Mouse Development

Jähner, D., & Jaenisch, R. (1985) · Molecular and Cellular Biology · doi:10.1128/mcb.5.9.2212 · Cited by 61

Single-nucleotide-level mapping of DNA regulatory elements that control fetal hemoglobin expression

Cheng, L., Li, Y., Qi, Q., Xu, P., Feng, R., Palmer, L. E., Chen, J., Wu, R., Yee, T., Zhang, J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00861-8 · Cited by 59

Recombination within the human embryonic ζ-globin locus: A common ζ-ζ chromosome produced by gene conversion of the ψζ gene

Hill, A. V. S., Nicholls, R. D., Thein, S. L., & Higgs, D. R. (1985) · Cell · doi:10.1016/0092-8674(85)90277-6 · Cited by 59

The regulation of human globin gene switching

Grosveld, F. G., Antoniou, M., Berry, M., de Boer, E., Dillon, N., Ellis, J., Fraser, P., Hanscombe, O., Hurst, J., Imam, A., et al. (1993) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1993.0015 · Cited by 58

HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription

Huang, P., Peslak, S. A., Ren, R., Khandros, E., Qin, K., Keller, C. A., Giardine, B. M., Bell, H. W., Lan, X., Sharma, M., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01152-6 · Cited by 56

Position effect variegation and imprinting of transgenes in lymphocytes

Williams, A., Harker, N., Ktistaki, E., Veiga‐Fernandes, H., Roderick, K., Tolaini, M., Norton, T., Williams, K., & Kioussis, D. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn085 · Cited by 57

Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.

Liebhaber, S. A., Griese, E., Weiss, I., Cash, F. E., Ayyub, H., Higgs, D. R., & Horst, J. (1990) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.87.23.9431 · Cited by 57

Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion

Simon, P., Decoster, C. G., Brocas, H., Schwers, J., & Vassart, G. (1986) · Human Genetics · doi:10.1007/bf00282540 · Cited by 54

The α‐Thalassemias

Higgs, D. R., Wood, W. G., Jarman, A. P., Vickers, M. A., Wilkie, A. O. M., Lamb, J. A., Vyas, P., & BENNETT, J. P. (1990) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1990.tb24286.x · Cited by 50

Eukaryotic enhancers: common features, regulation, and participation in diseases

Erokhin, M., Vassetzky, Y. S., Georgiev, P. G., & Chetverina, D. (2015) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-015-1871-9 · Cited by 54

Targeted inactivation of the major positive regulatory element (HS-40) of the human alpha-globin gene locus

Bernet, A., Sabatier, S., Picketts, D., Ouazana, R., Morlé, F., Higgs, D. R., & Godet, J. (1995) · Blood · doi:10.1182/blood.v86.3.1202.1202 · Cited by 50

Genomic Domains and Regulatory Elements Operating at the Domain Level

Razin, S. V., Farrell, C. M., & Targa, F. R. (2003) · International review of cytology · doi:10.1016/s0074-7696(03)01002-7 · Cited by 49

Transcription factor binding at enhancers: shaping a genomic regulatory landscape in flux

Palstra, R.-J. T. S., & Grosveld, F. G. (2012) · Frontiers in Genetics · doi:10.3389/fgene.2012.00195 · Cited by 55

A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects

Spitz, F., Montavon, T., Monso‐Hinard, C., Morris, M. A., Ventruto, M., Antonarakis, S. E., Ventruto, V., & Duboule, D. (2002) · Genomics · doi:10.1006/geno.2002.6735 · Cited by 46

Exploiting human-fish genome comparisons for deciphering gene regulation

Ahituv, N. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh229 · Cited by 49

Integrative prediction of gene expression with chromatin accessibility and conformation data

Schmidt, F., Kern, F., & Schulz, M. H. (2020) · Epigenetics & Chromatin · doi:10.1186/s13072-020-0327-0 · Cited by 46

Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion

Anand, R., Boehm, C., Kazazian, H. J., & Vanin, E. (1988) · Blood · doi:10.1182/blood.v72.2.636.636 · Cited by 46

A beta-globin gene, inactive in the K562 leukemic cell, functions normally in a heterologous expression system.

Fordis, C. M., Anagnou, N., Dean, A., Nienhuis, A. W., & Schechter, A. N. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.14.4485 · Cited by 45

The Role of p22 NF-E4 in Human Globin Gene Switching

Zhou, W., Zhao, Q., Sutton, R., Cumming, H. E., Wang, X., Cerruti, L., Hall, M., Wu, R., Cunningham, J. M., & Jane, S. M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m402191200 · Cited by 42

Functional anatomy of distant-acting mammalian enhancers

Dickel, D. E., Visel, A., & Pennacchio, L. A. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2012.0359 · Cited by 43

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

Bhatia, S., & Kleinjan, D. A. (2014) · Human Genetics · doi:10.1007/s00439-014-1424-6 · Cited by 42

Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes

Romão, L., Osório‐Almeida, L., Higgs, D. R., Lavinha, J., & Liebhaber, S. (1991) · Blood · doi:10.1182/blood.v78.6.1589.1589 · Cited by 41

The 5′HS4 core element of the human β-globin locus control region is required for high-level globin gene expression in definitive but not in primitive erythropoiesis 1 1Edited by M. Yaniv

Navas, P. A., Peterson, K. R., Li, Q., McArthur, M., & Stamatoyannopoulos, G. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2001.4939 · Cited by 41

Negative regulation of transcriptional initiation in eukaryotes

Goodbourn, S. (1990) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/0304-419x(90)90012-p · Cited by 41

Gene regulation and deregulation: a β globin perspective

Ho, P. J., & Thein, S. L. (2000) · Blood Reviews · doi:10.1054/blre.2000.0128 · Cited by 40

An RNA architectural locus control region involved in Dscam mutually exclusive splicing

Wang, X., Li, G., Yang, Y., Wang, W., Zhang, W., Pan, H., Zhang, P., Yue, Y., Lin, H., Liu, B., et al. (2012) · Nature Communications · doi:10.1038/ncomms2269 · Cited by 38

Transcriptional Unit of the Murine Thy-1 Gene: Different Distribution of Transcription Initiation Sites in Brain

Spanopoulou, E., Giguère, V., & Grosveld, F. G. (1988) · Molecular and Cellular Biology · doi:10.1128/mcb.8.9.3847 · Cited by 38

Physical mapping of yeast artificial chromosomes containing sequences from the human β-globin gene region

Gaensler, K. M. L., Burmeister, M., Brownstein, B. H., Taillon‐Miller, P., & Myers, R. (1991) · Genomics · doi:10.1016/0888-7543(91)90188-k · Cited by 38

The mouse β-globin locus control region: hypersensitive sites 3 and 4

Jiménez, G., Gale, K. B., & Enver, T. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.21.5797 · Cited by 38

The Corfu delta beta zero thalassemia: a small deletion acts at a distance to selectively abolish beta globin gene expression [published erratum appears in Blood 1988 May;71(5):1509]

Kulozik, A. E., Yarwood, N., & Jones, R. (1988) · Blood · doi:10.1182/blood.v71.2.457.457 · Cited by 37

Uncovering Enhancer Functions Using the α-Globin Locus

Vernimmen, D. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004668 · Cited by 36

Close encounters of the 3C kind: long-range chromatin interactions and transcriptional regulation

Palstra, R.-J. T. S. (2009) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/elp016 · Cited by 36

Primary transcripts: From the discovery of RNA processing to current concepts of gene expression ‐ Review

Scherrer, K. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.09.011 · Cited by 38

Chromatin structure and the expression of globin-encoding genes

Felsenfeld, G. (1993) · Gene · doi:10.1016/0378-1119(93)90056-9 · Cited by 36

Chromatin Structure and Gene Expression

Conklin, K. F., & Groudine, M. T. (1984) · Springer series in molecular biology · doi:10.1007/978-1-4613-8519-6_15 · Cited by 35

The human β-globin locus control region confers an early embryonic erythroid-specific expression pattern to a basic promoter driving the bacterial lacZ gene

Tewari, R., Gillemans, N., Harper, A. J., Wijgerde, M., Zafarana, G., Drabek, D., Grosveld, F. G., & Philipsen, S. (1996) · Development · doi:10.1242/dev.122.12.3991 · Cited by 34

Transcriptional Enhancers: Bridging the Genome and PhenomePreprint

Ren, B., & Yue, F. (2015) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2015.80.027219 · Cited by 34

Chapter 10 Genomic Identification of Regulatory Elements by Evolutionary Sequence Comparison and Functional Analysis

Loots, G. G. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00010-7 · Cited by 34

Varied Interactions Between Proviruses and Adjacent Host Chromatin

Conklin, K. F., & Groudine, M. T. (1986) · Molecular and Cellular Biology · doi:10.1128/mcb.6.11.3999 · Cited by 33

The structure of the Ultrabithorax promoter of Drosophila melanogaster

Saari, G., & Bienz, M. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb02430.x · Cited by 32

DNA sequences required for regulated expression of β-globin genes in murine erythroleukaemia cells

Wright, S., deBoer, E., Rosenthal, A. S., Flavell, R. A., & Grosveld, F. G. (1984) · Philosophical transactions of the Royal Society of London. Series B, Biological sciences · doi:10.1098/rstb.1984.0127 · Cited by 31

Translocation of an Erythroid-Specific Hypersensitive Site in Deletion-Type Hereditary Persistence of Fetal Hemoglobin

Elder, J., Forrester, W. C., Thompson, C. B., Mager, D. L., Henthorn, P. S., Peretz, M., Papayannopoulou, T., & Groudine, M. T. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.4.1382 · Cited by 31

Correct Function of the Locus Control Region May Require Passage Through a Nonerythroid Cellular Environment

Vassilopoulos, G., Navas, P. A., Skarpidi, E., Peterson, K. R., Lowrey, C. H., Papayannopoulou, T., & Stamatoyannopoulos, G. (1999) · Blood · doi:10.1182/blood.v93.2.703 · Cited by 30

Developmental Regulation of Human γ-Globin Genes in Transgenic Mice

Stamatoyannopoulos, G., Josephson, B. M., Zhang, J., & Li, Q. (1993) · Molecular and Cellular Biology · doi:10.1128/mcb.13.12.7636-7644.1993 · Cited by 30

Repression of human γ-globin gene expression by a short isoform of the NF-E4 protein is associated with loss of NF-E2 and RNA polymerase II recruitment to the promoter

Zhao, Q., Zhou, W., Rank, G., Sutton, R., Wang, X., Cumming, H. E., Cerruti, L., Cunningham, J. M., & Jane, S. M. (2005) · Blood · doi:10.1182/blood-2005-06-2497 · Cited by 29

The (unusual) heuristic value of Hox gene clusters; a matter of time?

Duboule, D. (2022) · Developmental Biology · doi:10.1016/j.ydbio.2022.02.007 · Cited by 36

A Novel Deletion in the β‐Globin Gene Complex

Wainscoat, J. S., Thein, S. L., Wood, W. G., Weatherall, D. J., Metaxotou-Mavromati, A., TZOTOS, S., Kanavakis, E., & Kattamis, C. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb17171.x · Cited by 29

Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers

Teng, L., Firpi, H. A., & Tan, K. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr476 · Cited by 28

L1 repeat elements in the human epsilon-G gamma-globin gene intergenic region: sequence analysis and concerted evolution within this family.

Rogan, P. K., Pan, J., & Weissman, S. M. (1987) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040448 · Cited by 27

The complexity of epigenetic diseases

Brazel, A. J., & Vernimmen, D. (2015) · The Journal of Pathology · doi:10.1002/path.4647 · Cited by 25

Developmental Regulation of the β-Globin Gene Locus

Chakalova, L., Carter, D., Debrand, E., Goyenechea, B., Horton, A., Miles, J., Osborne, C. S., & Fraser, P. (2005) · Springer eBooks · doi:10.1007/3-540-27310-7_8 · Cited by 25

The molecular basis of T cell differentiation

Flavell, R. A. (1999) · Immunologic Research · doi:10.1007/bf02786484 · Cited by 24

Regulatory Mutations and Human Genetic Disease

Cooper, D. N. (1992) · Annals of Medicine · doi:10.3109/07853899209166991 · Cited by 25

The Developmental Regulation of Albumin and α-Fetoprotein Gene Expression

Camper, S. A., Godbout, R., & Tilghman, S. M. (1989) · Progress in nucleic acid research and molecular biology · doi:10.1016/s0079-6603(08)60167-1 · Cited by 25

Increased γ‐globin gene expression in β‐thalassemia intermedia patients correlates with a mutation in 3′HS1

Papachatzopoulou, A., Kaimakis, P., Pourfarzad, F., Menounos, P. G., Evangelakou, P., Κollia, P., Grosveld, F. G., & Patrinos, G. P. (2007) · American Journal of Hematology · doi:10.1002/ajh.20979 · Cited by 24

HS5 of the human β‐globin locus control region: a developmental stage‐specific border in erythroid cells

Wai, A., Gillemans, N., Raguz‐Bolognesi, S., Pruzina, S., Zafarana, G., Meijer, D., Philipsen, S., & Grosveld, F. G. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg437 · Cited by 24

Primary structure of the goat β-globin locus control region

Li, Q., Zhou, B., Powers, P. A., Enver, T., & Stamatoyannopoulos, G. (1991) · Genomics · doi:10.1016/0888-7543(91)90415-b · Cited by 23

Activation of the beta-like globin genes in transgenic mice is dependent on the presence of the beta-locus control region

Navas, P. A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.8.893 · Cited by 21

Molecular mechanisms of hemoglobin switching

Jane, S. M., & Cunningham, J. M. (1996) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(96)00058-1 · Cited by 20

Genome‐Wide Maps of Transcription Regulatory Elements and Transcription Enhancers in Development and Disease

Agrawal, P., Heimbruch, K. E., & Rao, S. (2018) · Comprehensive physiology · doi:10.1002/cphy.c180028 · Cited by 27

A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies

Zittersteijn, H. A., Harteveld, C. L., Klaver-Flores, S., Lankester, A. C., Hoeben, R. C., Staal, F. J. T., & Gonçalves, M. A. F. V. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2020.617780 · Cited by 21

Silent genes in the mouse major urinary protein gene family.

Shi, Y., Son, H. J., Shahan, K., Rodriguez, M., Costantini, F. D., & Derman, E. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.12.4584 · Cited by 19

Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics

Jarinova, O., & Ekker, M. (2012) · Human Mutation · doi:10.1002/humu.22083 · Cited by 18

A Negative Cis-element Regulates the Level of Enhancement by Hypersensitive Site 2 of the β-Globin Locus Control Region

Elnitski, L. L., Li, J., Noguchi, C. T., Miller, W., & Hardison, R. C. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m009624200 · Cited by 18

Human ?-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3? of the ?-globin gene

Romão, L., Cash, F. E., Weiss, I., Liebhaber, S. A., Pirastu, M., Galanello, R., Loi, A., Paglietti, E., Ioannou, P. A., & Cao, A. (1992) · Human Genetics · doi:10.1007/bf00220551 · Cited by 18

Toward a comprehensive catalog of regulatory elements

Fan, K., Pfister, E. L., & Weng, Z. (2023) · Human Genetics · doi:10.1007/s00439-023-02519-3 · Cited by 19

Uncovering hidden enhancers through unbiased in vivo testing

Mannion, B. J., Tran, S., Plajzer-Frick, I., Novak, C. S., Afzal, V., Akiyama, J. A., Sospedra-Arrufat, I., Barton, S., Beckman, E., Garvin, T. H., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-62497-0 · Cited by 14

A > 200 kb deletion removing the entire β-like globin gene cluster in a family of Irish Descent

Fortina, P. M., Delgrosso, K., Werner, E. J., Haines, K. M., Rappaport, E. F., Schwartz, E., & Surrey, S. (1991) · Hemoglobin · doi:10.3109/03630269109072482 · Cited by 16

Overview of the β Thalassemias: Genetic and Clinical Aspects

Schwartz, E., Cohen, A., & Surrey, S. (1988) · Hemoglobin · doi:10.3109/03630268808991644 · Cited by 16

The Dominant Control Region of the Human β‐Globin Domain

Grosveld, F. G., Greaves, D. R., Philipsen, S., Talbot, D., Pruzina, S., deBoer, E., Hanscombe, O., Belhumeur, P., Hurst, J., Fraser, P., et al. (1990) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1990.tb24301.x · Cited by 15

VpreB gene expression in hematopoietic malignancies: a lineage- and stage-restricted marker for B-cell precursor leukemias

Bauer, S., Kubagawa, H., Maclennan, I., & Melchers, F. (1991) · Blood · doi:10.1182/blood.v78.6.1581.1581 · Cited by 15

A long-range flexible billboard model of gene activation

Vockley, C. M., McDowell, I. C., D'Ippolito, A. M., & Reddy, T. E. (2017) · Transcription · doi:10.1080/21541264.2017.1317694 · Cited by 16

Functional categorization of gene regulatory variants that cause Mendelian conditions

Cheng, Y.-H. H., Bohaczuk, S. C., & Stergachis, A. B. (2024) · Human Genetics · doi:10.1007/s00439-023-02639-w · Cited by 13

The Molecular Basis of -ThalassemiaPreprint

Thein, S. L. (2013) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a011700 · Cited by 402

Long-range gene regulation and novel therapeutic applications

van den Heuvel, A., Stadhouders, R., Andrieu‐Soler, C., Grosveld, F. G., & Soler, É. (2015) · Blood · doi:10.1182/blood-2014-11-567925 · Cited by 12

DNase I Hypersensitive Site II of the Human Growth Hormone Locus Control Region Mediates an Essential and Distinct Long-range Enhancer Function

Fleetwood, M. R., Ho, Y., Cooke, N. E., & Liebhaber, S. A. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.365825 · Cited by 12

Human Hemoglobin

Patrinos, G. P., & Antonarakis, S. E. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_13 · Cited by 12

Dynamic changes in the locus control region of erythroid progenitor cells demonstrated by polymerase chain reaction

Yoo, J. J., Herman, L., Li, C. V., Krantz, S. B., & Tuan, D. Y. H. (1996) · Blood · doi:10.1182/blood.v87.6.2558.bloodjournal8762558 · Cited by 12

Natural and Experimental Rewiring of Gene Regulatory Regions

Downes, D. J., & Hughes, J. R. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-112921-010715 · Cited by 12

On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio)

Blümel, R., Zink, M., Klopocki, E., & Liedtke, D. (2019) · PLoS ONE · doi:10.1371/journal.pone.0218286 · Cited by 12

The position of integration affects expression of the Aγ-globin-encoding gene linked to HS3 in transgenic mice

Navas, P. A., Josephson, B. M., Furukawa, T., Stamatoyannopoulos, G., & Li, Q. (1995) · Gene · doi:10.1016/0378-1119(95)00202-h · Cited by 11

Globin gene switching: A paradigm or what?

Enver, T., & Greaves, D. R. (1991) · Current Opinion in Biotechnology · doi:10.1016/s0958-1669(05)80108-9 · Cited by 11

Chromosome structure and eukaryotic gene organization

Kitsberg, D., Selig, S., & Cedar, H. (1991) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(05)80204-7 · Cited by 11

The regulation of β globin gene expression and β thalassemia

Ho, P. J. (1999) · Pathology · doi:10.1080/003130299104666 · Cited by 9

Function of the upstream hypersensitive sites of the chicken -globin gene cluster in mice

Reitman, M. L., Lee, E., & Westphal, H. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.10.1790 · Cited by 9

1990 MACK FORSTER PRIZE LECTURE REVIEW: The Molecular Genetics of the a globin gene family

Higgs, D. R. (1990) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1990.tb01868.x · Cited by 9

Restriction endonuclease accessibility of the developmentally regulated goat gamma-, beta C-, and beta A-globin genes in chromatin. Differences in 5' regions which show unusually high sequence homology.

Liberator, P., & Lingrel, J. B. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)42576-2 · Cited by 9

Bioinformatics and Translation Elongation

Xia, X. (2018) · Springer eBooks · doi:10.1007/978-3-032-18842-7_11 · Cited by 9

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

Savarese, M., Piluso, G., Orteschi, D., Fruscio, G. D., Dionisi, M., Blanco, F. D. V., Torella, A., Giugliano, T., Iacomino, M., Zollino, M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052264 · Cited by 8

Retroviral Vectors for the β‐Globin Gene That Demonstrate Improved Titer and Expressiona

Gelinas, R. E., & Novak, U. (1990) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1990.tb24330.x · Cited by 8

Disorders of abnormal hemoglobin

Das, R., & Sharma, P. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-809356-6.00018-6 · Cited by 8

Anaemia, macrocytosis, vitamin B12 and folate levels in elderly Zimbabweans.

Allain, T. J., Gomo, Z. A. R., Wilson, A. O., Ndemera, B., Adamchak, D. J., & Matenga, J. A. (1997) · PubMed · Cited by 8

Targeted Remodeling of Human β-Globin Promoter Chromatin Structure Produces Increased Expression and Decreased Silencing

Iler, N., Goodwin, A. J., IV, McInerney, J. M., Nemeth, M. J., Pomerantz, O., Layon, M. E., & Lowrey, C. H. (1999) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.1999.0226 · Cited by 8

Higher-Order Chromatin Organization in Diseases: From Chromosomal Position Effect to Phenotype Variegation

Robin, J. D., & Magdinier, F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-805388-1.00006-7 · Cited by 7

DNA methylation in hereditary persistence of fetal hemoglobin (HPFH-2)

Poncz, M., Sutton, M., Delgrosso, K., Schwartz, E., & Surrey, S. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.13.5169 · Cited by 7

Distance-Based Phylogenetic Methods

Xia, X. (2018) · Springer eBooks · doi:10.1007/978-3-319-90684-3_15 · Cited by 7

Localization and Characterization of the DNase I–Hypersensitive Site II (HS II) Enhancer

Sorrentino, B. P., Ney, P. A., & Nienhuis, A. W. (1990) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1990.tb24300.x · Cited by 7

Resolution of a human super-enhancer by targeted genome randomisationPreprint

Koeppel, J., Murat, P., Girling, G., Peets, E. M., Gouley, M., Rebernig, V., Maheshwari, A., Hepkema, J., Weller, J., Jebaraj, J. H. J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.14.632548 · Cited by 7

Prostate Cancer Epigenetic Plasticity and Enhancer Heterogeneity: Molecular Causes, Consequences and Clinical Implications

Kneppers, J., Bergman, A. M., & Zwart, W. T. (2022) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-11836-4_15 · Cited by 6

Genetic and Epigenetic Dysregulation of Transcriptional Enhancers in Cancer

Botten, G. A., & Xu, J. (2024) · Annual Review of Cancer Biology · doi:10.1146/annurev-cancerbio-060324-114306 · Cited by 7

The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro

Curtin, P., & Kan, Y. W. (1988) · Blood · doi:10.1182/blood.v71.3.766.766 · Cited by 24

The β-Globin Dominant Control Region

Grosveld, F. G., Antoniou, M., van Assendelft, G. B., Collis, P., Dillon, N., Greaves, D. R., Hanscombe, O., Hurst, J., Lindenbaum, M., Talbot, D., et al. (1990) · Springer eBooks · doi:10.1007/978-1-4613-1565-0_10 · Cited by 3

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Driscoll, M. C., Dobkin, C. S., & Alter, B. P. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.19.7470 · Cited by 233

γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man

der Ploeg, L. H. T. V., Konings, A. W. T., Oort, M., Roos, D., Bernini, L. F., & Flavell, R. A. (1980) · Nature · doi:10.1038/283637a0 · Cited by 179

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Curtin, P. T., Pirastu, M., Kan, Y. W., Gobert-Jones, J. A., Stephens, A. D., & Lehmann, H. (1985) · Journal of Clinical Investigation · doi:10.1172/jci112136 · Cited by 97