The DOI matches its Crossref record; 34 of the 35 references it cites were found in a registry or an index.
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
Open accessAbstract
Unequivocal identification of the full composition of a gene is made difficult by the cryptic nature of regulatory elements. Regulatory elements are notoriously difficult to locate and may reside at considerable distances from the transcription units on which they operate and, moreover, may be incorporated into the structure of neighbouring genes. The importance of regulatory mutations as the basis of human abnormalities remains obscure. Here, we show that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element. Shh, normally expressed in the ZPA posteriorly in the limb bud, is expressed in an additional ectopic site at the anterior margin in mouse models of PPD. Our investigations into the basis of the ectopic Shh expression identified the enhancer element that drives normal Shh expression in the ZPA. The regulator, designated ZRS, lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh. The ZRS drives the early spatio-temporal expression pattern in the limb of tetrapods. Despite the morphological differences between limbs and fins, an equivalent regulatory element is found in fish. The ZRS contains point mutations that segregate with polydactyly in four unrelated families with PPD and in the Hx mouse mutant. Thus point mutations residing in long-range regulatory elements are capable of causing congenital abnormalities, and possess the capacity to modify gene activity such that a novel gamut of abnormalities is detected.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“It soon became clear that enhancers also played vital roles in humans, with non-coding enhancer deletions starting to be linked to severe disease phenotypes such as beta thalassaemia and polydactyly [25–28].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [27]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The classic example of this is the Shh ZRS enhancer, which is located within the intron of the Lmbr1 gene approximately 1 megabase distant from Shh [27].”
From Transcriptional enhancers and their communication with gene promoters (2021) · cites this paper as [27]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“For example, in the mouse genome, the Shh gene and its ZRS (zone of polarizing activity regulatory sequence) enhancer are located about 1 Mb apart [127].”
From Enhancer Function in the 3D Genome (2023) · cites this paper as [127]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“At least a few enhancers reside at great distances from their target gene (e.g. the ZRS enhancer located 1 Mb from the Shh gene118, and a MYC enhancer located 1.7 Mb downstream119), although most are much more proximal to their target promoters72.”
From Towards a comprehensive catalogue of validated and target-linked human enhancers (2020) · cites this paper as [118]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Thompson, J. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.24.4876 · Cited by 38,685
A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341
Sonic hedgehog mediates the polarizing activity of the ZPA
Riddle, R. D., Johnson, R. L., Laufer, E., & Tabin, C. J. (1993) · Cell · doi:10.1016/0092-8674(93)90626-2 · Cited by 2,285
Echelard, Y., Epstein, D. J., St-Jacques, B., Shen, L., Mohler, J., McMahon, J. A., & McMahon, A. P. (1993) · Cell · doi:10.1016/0092-8674(93)90627-3 · Cited by 2,154
Krauss, S. J. K., Concordet, J., & Ingham, P. W. (1993) · Cell · doi:10.1016/0092-8674(93)90628-4 · Cited by 1,072
VISTA : visualizing global DNA sequence alignments of arbitrary length
Mayor, C., Brudno, M., Schwartz, J. R., Poliakov, A., Rubin, E. M., Frazer, K. A., Pachter, L. S., & Dubchak, I. L. (2000) · Bioinformatics · doi:10.1093/bioinformatics/16.11.1046 · Cited by 1,017
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Lettice, L., Horikoshi, T., Heaney, S., van Baren, M. V., van der Linde, H. C., Breedveld, G., Joosse, M., Akarsu, N., Oostra, B., Endo, N., et al. (2002) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.112212199 · Cited by 501
Self-citationThe regulation of myogenin gene expression during the embryonic development of the mouse.Preprint
Yee, S., & Rigby, P. W. J. (1993) · Genes & Development · doi:10.1101/gad.7.7a.1277 · Cited by 423
Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9
Li, H., Arber, S., Jessell, T. M., & Edlund, H. (1999) · Nature Genetics · doi:10.1038/12669 · Cited by 377
Position effect in human genetic disease
Kleinjan, D. A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.10.1611 · Cited by 370
Research works printed but not linked: 1
- Sanders, J.W. Jr and Gasseling, M.T. (1968) Ectodermal-mesenchymal interactions in the origin of limb symmetry. In Fleischmajar, R. and Billingham, R.F. (eds), Ectodermal-Mesenchymal Interactions. Williams and Wilkins, Baltimore, MD, pp. 78-97.
Cited by
Sorted by citations
Items 301–400 of 999
Range extender mediates long-distance enhancer activity
Bower, G., Hollingsworth, E. W., Jacinto, S. H., Alcantara, J. A., Clock, B., Cao, K., Liu, M., Dziulko, A., Alcaina-Caro, A., Xu, Q., et al. (2025) · Nature · doi:10.1038/s41586-025-09221-6 · Cited by 49
Human GLI3 Intragenic Conserved Non-Coding Sequences Are Tissue-Specific Enhancers
Abbasi, A. A., Paparidis, Z., Malik, S., Goode, D. K., Callaway, H., Elgar, G., & Grzeschik, K. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000366 · Cited by 49
Thompson, A. C., Capellini, T. D., Guenther, C. A., Chan, Y. F., Infante, C. R., Menke, D. B., & Kingsley, D. M. (2018) · eLife · doi:10.7554/elife.38555 · Cited by 49
The digits of the wing of birds are 1, 2, and 3. a review
Vargas, A. O., & Fallon, J. F. (2005) · Journal of Experimental Zoology Part B Molecular and Developmental Evolution · doi:10.1002/jez.b.21051 · Cited by 50
Chapter 6 Global Control Regions and Regulatory Landscapes in Vertebrate Development and Evolution
Spitz, F., & Duboule, D. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00006-5 · Cited by 52
Distal enhancers: new insights into heart development and disease
Wamstad, J. A., Wang, X., Demuren, O. O., & Boyer, L. A. (2013) · Trends in Cell Biology · doi:10.1016/j.tcb.2013.10.008 · Cited by 48
Enhancer alterations in cancer: a source for a cell identity crisis
Kron, K. J., Bailey, S. D., & Lupien, M. (2014) · Genome Medicine · doi:10.1186/s13073-014-0077-3 · Cited by 49
Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1
Park, K., Kang, J., Subedi, K. P., Ha, J., & Park, C. (2008) · Genetics · doi:10.1534/genetics.108.087114 · Cited by 49
The Role of Insulation in Patterning Gene Expression
Özdemir, I., & Gambetta, M. C. (2019) · Genes · doi:10.3390/genes10100767 · Cited by 50
Exploiting human-fish genome comparisons for deciphering gene regulation
Ahituv, N. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh229 · Cited by 49
Androgen Receptor-Mediated Transcription in Prostate Cancer
Özturan, D., Morova, T., & Lack, N. A. (2022) · Cells · doi:10.3390/cells11050898 · Cited by 51
Farooq, M., Troelsen, J., Boyd, M., Eiberg, H., Hansen, L., Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.225 · Cited by 49
Regulation of Six1 expression by evolutionarily conserved enhancers in tetrapods
Sato, S., Ikeda, K., Shioi, G., Nakao, K., Yajima, H., & Kawakami, K. (2012) · Developmental Biology · doi:10.1016/j.ydbio.2012.05.023 · Cited by 48
Dunn, I., Paton, I. R., Clelland, A. K., Sebastian, S., Johnson, E. J., McTeir, L., Windsor, D., Sherman, A., Sang, H., Burt, D. W., et al. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22623 · Cited by 48
Prospects and pitfalls in whole genome association studies
Lawrence, R., Evans, D. M., & Cardon, L. R. (2005) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2005.1689 · Cited by 48
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies
Esplin, E. D., Li, B., Slavotinek, A. M., Novelli, A., Battaglia, A., Clark, R. D., Curry, C. J., & Hudgins, L. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36598 · Cited by 47
Akiyama, Y., Koda, Y., Byeon, S., Shimada, S., Nishikawaji, T., Sakamoto, A., Chen, Y., Kojima, K., Kawano, T., Eishi, Y., et al. (2015) · Oncotarget · doi:10.18632/oncotarget.6681 · Cited by 46
Epigenomic profiling of cancer cells
Gargiulo, G., & Minucci, S. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.07.021 · Cited by 47
Nakaoka, H., Gurumurthy, A., Hayano, T., Ahmadloo, S., Omer, W. H., Yoshihara, K., Yamamoto, A., Kurose, K., Enomoto, T., Akira, S., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005893 · Cited by 46
Enhancers in the Peril lincRNA locus regulate distant but not local genes
Groff, A. F., Barutcu, A. R., Lewandowski, J. P., & Rinn, J. L. (2018) · Genome biology · doi:10.1186/s13059-018-1589-8 · Cited by 42
Genetic studies of human–chimpanzee divergence using stem cell fusions
Song, J. H. T., Grant, R. L., Behrens, V. C., Kučka, M., Kingman, G. A. R., Soltys, V., Chan, Y. F., & Kingsley, D. M. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2117557118 · Cited by 46
Hing, B. W. Q., Braun, P., Cordner, Z. A., Ewald, E. R., Moody, L., McKane, M., Willour, V. L., Tamashiro, K. L., & Potash, J. B. (2018) · Epigenetics · doi:10.1080/15592294.2018.1486654 · Cited by 48
Transcriptional Regulation and Implications for Controlling Hox Gene Expression
Afzal, Z., & Krumlauf, R. K. (2022) · Journal of Developmental Biology · doi:10.3390/jdb10010004 · Cited by 51
Sobreira, N. L. M., Gnanakkan, V. P., Walsh, M. F., Marosy, B. A., Wohler, E., THOMAS, G. V., Hoover-Fong, J. E., Hamosh, A., Wheelan, S. J., & Valle, D. L. (2011) · Genome Research · doi:10.1101/gr.122986.111 · Cited by 46
Genetics of Atrial Fibrillation
Lubitz, S. A., Yi, B. A., & Ellinor, P. T. (2010) · Heart Failure Clinics · doi:10.1016/j.hfc.2009.12.004 · Cited by 46
Landscapes and archipelagos: spatial organization of gene regulation in vertebrates
Montavon, T., & Duboule, D. (2012) · Trends in Cell Biology · doi:10.1016/j.tcb.2012.04.003 · Cited by 50
Unraveling the transcriptional regulation of TWIST1 in limb development
Hirsch, N., Eshel, R., Bar-Yaacov, R., Shahar, T., Shmulevich, F., Dahan, I., Levaot, N., Kaplan, T., Lupiáñez, D. G., & Birnbaum, R. Y. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007738 · Cited by 43
Pendse, J., Ramachandran, P. V., Na, J., Narisu, N., Fink, J. L., Cagan, R. L., Collins, F. S., & Baranski, T. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-136 · Cited by 48
New technologies, new findings, and new concepts in the study of vertebrate cis‐regulatory sequences
Gómez-Skármeta, J. L., Lenhard, B., & Becker, T. S. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20659 · Cited by 45
Taylor, T., Sikorska, N., Shchuka, V. M., Chahar, S., Ji, C., Macpherson, N. N., Moorthy, S. D., de Kort, M. A. C., Mullany, S., Khader, N., et al. (2022) · Genes & Development · doi:10.1101/gad.349489.122 · Cited by 45
Dai, L., Deng, Y., Li, N., Xie, L., Mao, M., & Zhu, J. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-45 · Cited by 44
SHH signaling directed by two oral epithelium-specific enhancers controls tooth and oral development
Sagai, T., Amano, T., Maeno, A., Kiyonari, H., Seo, H.-J., Cho, S. W., & Shiroishi, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-12532-y · Cited by 44
Interpreting mammalian evolution using Fugu genome comparisons
Ovcharenko, I., Stubbs, L. J., & Loots, G. G. (2004) · Genomics · doi:10.1016/j.ygeno.2004.07.011 · Cited by 44
Roscito, J. G., Sameith, K., Kirilenko, B. M., Hecker, N., Winkler, S., Dahl, A., Rodrigues, M. T., & Hiller, M. (2022) · Cell Reports · doi:10.1016/j.celrep.2021.110280 · Cited by 44
Enhancer turnover and conserved regulatory function in vertebrate evolution
Domené, S., Bumaschny, V. F., de Souza, F. S. J., Franchini, L. F., Nasif, S., Low, M. J., & Rubinstein, M. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0027 · Cited by 45
Hill-Harfe, K. L., Kaplan, L., Stalker, H. J., Zori, R. T., Pop, R., Scherer, G., & Wallace, M. R. (2005) · The American Journal of Human Genetics · doi:10.1086/429254 · Cited by 43
Cao, Y., Zhang, X., Akerberg, B. N., Yuan, H., Sakamoto, T., Xiao, F., VanDusen, N. J., Zhou, P., Sweat, M., Wang, Y., et al. (2023) · Circulation · doi:10.1161/circulationaha.122.061955 · Cited by 41
Furniss, D., Kan, S., Taylor, I. B., Johnson, D., Critchley, P. S., Giele, H. P., & Wilkie, A. O. M. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.066027 · Cited by 42
Principles and methods of in-silico prioritization of non-coding regulatory variants
Lee, P. H., Lee, C. R., Li, X., Wee, B., Dwivedi, T., & Daly, M. J. (2017) · Human Genetics · doi:10.1007/s00439-017-1861-0 · Cited by 46
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
Bozal‐Basterra, L., Martín‐Ruiz, I., Pirone, L., Liang, Y., Sigurðsson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodríguez, J. A., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.017 · Cited by 46
Enhancer–gene maps in the human and zebrafish genomes using evolutionary linkage conservation
Clément, Y., Torbey, P., Gilardi‐Hebenstreit, P., & Crollius, H. R. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1199 · Cited by 43
The Stochastic Genome and Its Role in Gene ExpressionPreprint
Bohrer, C. H., & Larson, D. R. (2021) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a040386 · Cited by 43
FADS2 function at the major cancer hotspot 11q13 locus alters fatty acid metabolism in cancer
Kothapalli, K. S. D., Park, H. G., Kothapalli, N. S. L., & Brenna, J. T. (2023) · Progress in Lipid Research · doi:10.1016/j.plipres.2023.101242 · Cited by 43
Bittner, N., Shi, C., Zhao, D., Ding, J., Southam, L., Swift, D., Kreitmaier, P., Tutino, M., Stergiou, O. S., Cheung, J. T. S., et al. (2024) · Annals of the Rheumatic Diseases · doi:10.1136/ard-2023-224945 · Cited by 43
Zúñiga, A., Laurent, F., López-Rı́os, J., Klasen, C., Matt, N., & Zeller, R. (2012) · BMC Developmental Biology · doi:10.1186/1471-213x-12-23 · Cited by 40
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
Bozal‐Basterra, L., Gonzalez-Santamarta, M., Muratore, V., Bermejo-Arteagabeitia, A., Fonseca, C. D., Barroso‐Gomila, O., Azkargorta, M., Iloro, I., Pampliega, O., Andrade, R., et al. (2020) · eLife · doi:10.7554/elife.55957 · Cited by 41
Autism Associated Gene, ENGRAILED2, and Flanking Gene Levels Are Altered in Post-Mortem Cerebellum
Choi, J., Ababon, M. R., Soliman, M., Lin, Y., Brzustowicz, L. M., Matteson, P. G., & Millonig, J. H. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087208 · Cited by 41
Bhatia, S., & Kleinjan, D. A. (2014) · Human Genetics · doi:10.1007/s00439-014-1424-6 · Cited by 42
Wu, H., Zhang, J., Tan, L., & Xie, X. S. (2025) · Nature Genetics · doi:10.1038/s41588-025-02247-6 · Cited by 44
Transcriptional enhancers: functional insights and role in human disease
Miguel-Escalada, I., Pasquali, L., & Ferrer, J. P. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.08.009 · Cited by 44
HnRNP U mediates the long-range regulation of Shh expression during limb development
Zhao, J. C., Ding, J., Li, Y., Ren, K., Sha, J., Zhu, M., & Gao, X. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp250 · Cited by 40
The characteristics of HPV integration in cervical intraepithelial cells
Li, W., Tian, S., Wang, P., Zang, Y., Chen, X., Yao, Y., & Li, W. (2019) · Journal of Cancer · doi:10.7150/jca.31450 · Cited by 40
Ultraconserved non‐coding sequence element controls a subset of spatiotemporal GLI3 expression
Paparidis, Z., Abbasi, A. A., Malik, S., Goode, D. K., Callaway, H., Elgar, G., DeGraaff, E., López-Ríos, J., Zeller, R., & Grzeschik, K. (2007) · Development Growth & Differentiation · doi:10.1111/j.1440-169x.2007.00954.x · Cited by 40
Lehoczky, J. A., Williams, M. E., & Innis, J. W. (2004) · Evolution & Development · doi:10.1111/j.1525-142x.2004.04050.x · Cited by 40
Long-range regulation of transcription scales with genomic distance in a gene-specific manner
Jensen, C. L., Chen, L.-F., Swigut, T., Crocker, O. J., Yao, D., Bassik, M. C., Ferrell, J. E., Boettiger, A. N., & Wysocka, J. (2025) · Molecular Cell · doi:10.1016/j.molcel.2024.10.021 · Cited by 39
Alterations to the remote control of Shh gene expression cause congenital abnormalities
Hill, R., & Lettice, L. (2013) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2012.0357 · Cited by 44
Self-citationAl-Qattan, M. M., Abdulkareem, I. A., Alhaidan, Y., & Balwi, M. A. A. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35584 · Cited by 39
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome
Naville, M., Ishibashi, M., Ferg, M., Bengani, H., Rinkwitz, S., Krecsmarik, M., Hawkins, T. A., Wilson, S. W., Manning, E., Chilamakuri, C. S. R., et al. (2015) · Nature Communications · doi:10.1038/ncomms7904 · Cited by 38
Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus
Montavon, T., Thevenet, L., & Duboule, D. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217659109 · Cited by 38
Coles, G. L., & Ackerman, K. G. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222797110 · Cited by 38
Woolfe, A., & Elgar, G. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00012-0 · Cited by 39
Lyle, R., Radhakrishna, U., Blouin, J., Gagos, S., Everman, D. B., Gehrig, C., DeLozier-Blanchet, C. D., Solanki, J. V., Patel, U. C., Nath, S. K., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31247 · Cited by 38
Wang, Z., Tian, S., Shi, Y.-Z., Zhou, P.-T., Wang, Z., Shu, R., Hu, L., & Kong, X. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.01.129 · Cited by 38
Maas, S. A., Suzuki, T., & Fallon, J. F. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22634 · Cited by 37
Fogelgren, B., Kuroyama, M., McBratney‐Owen, B., Spence, A. C., Malahn, L. E., Anawati, M. K., Cabatbat, C., Alarcón, V. B., Marikawa, Y., & Lozanoff, S. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21587 · Cited by 37
Xin, D., Christopher, K. J., Zeng, L., Kong, Y., & Weatherbee, S. D. (2017) · Development · doi:10.1242/dev.143255 · Cited by 36
The dynamics of spleen morphogenesis
Burn, S. F., Boot, M. J., de Angelis, C., Doohan, R., Arqués, C. G., Torres, M., & Hill, R. E. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.03.031 · Cited by 37
Masotti, C., Armelin‐Correa, L., Splendore, A., Lin, C. J., Barbosa, A. S., Sogayar, M. C., & Passos‐Bueno, M. R. (2005) · Gene · doi:10.1016/j.gene.2005.06.004 · Cited by 37
Emechebe, U., Kumar P, P., Rozenberg, J. M., Moore, B., Firment, A., Mirshahi, T., & Moon, A. M. (2016) · eLife · doi:10.7554/elife.07897 · Cited by 36
To BMP or not to BMP during vertebrate limb bud development
Pignatti, E., Zeller, R., & Zúñiga, A. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.04.004 · Cited by 35
Revisiting 3D chromatin architecture in cancer development and progression
Feng, Y., & Pauklin, S. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa747 · Cited by 36
A novel regulatory element for Shh expression in the lung and gut of mouse embryos
Tsukiji, N., Amano, T., & Shiroishi, T. (2013) · Mechanisms of Development · doi:10.1016/j.mod.2013.09.003 · Cited by 38
Topological Domains, Metagenes, and the Emergence of Pleiotropic Regulations at Hox Loci
Darbellay, F., & Duboule, D. (2016) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2015.11.022 · Cited by 35
Dosage-dependent rescue of definitive nephrogenesis by a distant Gata3 enhancer
Hasegawa, S. L., Moriguchi, T., Rao, A. U. K., Kuroha, T., Engel, J. D., & Lim, K.-C. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.09.030 · Cited by 35
Goode, D. K., Callaway, H., Cerda, G. A., Lewis, K. E., & Elgar, G. (2011) · Development · doi:10.1242/dev.055996 · Cited by 36
Lennartsson, A., Arner, E., Fagiolini, M., Saxena, A., Andersson, R., Takahashi, H., Noro, Y., Sng, J., Sandelin, A., Hensch, T. K., et al. (2015) · Epigenetics & Chromatin · doi:10.1186/s13072-015-0043-3 · Cited by 37
Intronic enhancer region governs transcript-specific Bdnf expression in rodent neurons
Tuvikene, J., Esvald, E., Rähni, A., Uustalu, K., Zhuravskaya, A., Avarlaid, A., Makeyev, E. V., & Timmusk, T. (2021) · eLife · doi:10.7554/elife.65161 · Cited by 35
Snetkova, V., & Skok, J. A. (2018) · Epigenomics · doi:10.2217/epi-2017-0157 · Cited by 34
Laurell, T., VanderMeer, J. E., Wenger, A. M., Grigelioniené, G., Nordenskjöld, A., Arner, M., Ekblom, A. G., Bejerano, G., Ahituv, N., & Nordgren, A. (2012) · Human Mutation · doi:10.1002/humu.22097 · Cited by 35
Maas, S. A., & Fallon, J. F. (2004) · Developmental Dynamics · doi:10.1002/dvdy.10502 · Cited by 35
Multiple layers of complexity in cis‐regulatory regions of developmental genes
Frankel, N. (2012) · Developmental Dynamics · doi:10.1002/dvdy.23871 · Cited by 34
Functional single nucleotide polymorphism-based association studies
Carlton, V. E. H., Ireland, J. S., Useche, F., & Faham, M. (2006) · Human Genomics · doi:10.1186/1479-7364-2-6-391 · Cited by 36
Crotwell, P. L., & Mabee, P. (2007) · Developmental Dynamics · doi:10.1002/dvdy.21352 · Cited by 35
Dcode.org anthology of comparative genomic tools
Loots, G. G., & Ovcharenko, I. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki355 · Cited by 37
Savic, D., Roberts, B. S., Carleton, J. B., Partridge, E. C., White, M. A., Cohen, B. A., Cooper, G. M., Gertz, J., & Myers, R. (2015) · Genome Research · doi:10.1101/gr.191593.115 · Cited by 33
Tenney, A. P., Gioia, S. A. D., Webb, B. D., Chan, W. M., de Boer, E., Garnai, S. J., Barry, B. J., Ray, T., Kosicki, M., Robson, C. D., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01424-9 · Cited by 31
Enhancer networks revealed by correlated DNAse hypersensitivity states of enhancers
Malin, J., Aniba, R., & Hannenhalli, S. S. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt374 · Cited by 35
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies
Bakrania, P., İşerı̇, S. A. U., Wyatt, A. W., Bunyan, D., Lam, W. W. K., Salt, A., Ramsay, J. K., Robinson, D., & Ragge, N. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33239 · Cited by 34
Cis-regulatory programs in the development and evolution of vertebrate paired appendages
Gehrke, A. R., & Shubin, N. H. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2016.01.015 · Cited by 35
Babarinde, I. A., & Saitou, N. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msw058 · Cited by 30
Farrugia, M., & Calleja-Agius, J. (2016) · Neonatal Network · doi:10.1891/0730-0832.35.3.135 · Cited by 58
Kim, S. G., Theera-Ampornpunt, N., Fang, C.-H., Harwani, M., Grama, A. Y., & Chaterji, S. (2016) · BMC Systems Biology · doi:10.1186/s12918-016-0302-3 · Cited by 35
Systematic in silico discovery of novel solute carrier-like proteins from proteomes
Gyimesi, G., & Hediger, M. A. (2022) · PLoS ONE · doi:10.1371/journal.pone.0271062 · Cited by 34
From remote enhancers to gene regulation: charting the genome's regulatory landscapes
Symmons, O., & Spitz, F. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2012.0358 · Cited by 36
Fujioka, H., Ariga, T., Horiuchi, K., Otsu, M., Igawa, H. H., Kawashima, K., Yamamoto, Y., Sugihara, T., & Sakiyama, Y. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00431.x · Cited by 34
Feng, Y., Vetró, Á., Kiss, E., Kapornai, K., Daróczi, G., Mayer, L., Tamás, Z., Baji, I., Gádoros, J., King, N. A., et al. (2008) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2007.07050805 · Cited by 34
VanderMeer, J. E., Lozano, R., Sun, M., Xue, Y., Daentl, D. L., Jabs, E. W., Wilcox, W. R., & Ahituv, N. (2014) · Human Mutation · doi:10.1002/humu.22581 · Cited by 34
Dreger, D. L., Parker, H. G., Ostrander, E. A., & Schmutz, S. M. (2013) · Journal of Heredity · doi:10.1093/jhered/est012 · Cited by 33
Lin, H. P., McBride, K. L., Garg, V., & Zhao, M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.630069 · Cited by 35
Metadata
- Authors
- Lettice, L. A.
- Affiliations
- Western General Hospital (GB)
- Corresponding author
- Lettice, L. A.
- ORCID
- Lettice, L. A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-07-15
- Volume
- 12
- Issue
- 14
- Pages
- 1725-1735
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2145144631
- Cited by
- 1,164
- References
- 35
- Citations by year
- 2026: 26 · 2025: 40 · 2024: 50 · 2023: 58 · 2022: 66 · 2021: 78 · 2020: 52 · 2019: 49 · 2018: 50 · 2017: 50 · 2016: 64 · 2015: 56 · 2014: 78 · 2013: 64 · 2012: 60
- FWCI
- 26.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Lirias (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Keywords
- Sonic hedgehog, preaxial polydactyly, limb bud, fin development, zirconium, LMBR1, point mutations, congenital limb anomalies, chromosome 7q36
- MeSH terms
- Zona Pellucida Glycoproteins, Animals, Base Sequence, Chromosomes, Human, Pair 7, Egg Proteins, Enhancer Elements, Genetic, Extremities, Female, Humans, Male, Membrane Glycoproteins, Membrane Proteins, Molecular Sequence Data, Pedigree, Receptors, Cell Surface, Trans-Activators, Polydactyly, Takifugu, Mice, Hedgehog Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
