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 901–999 of 999
[Recent progress in research of congenital polydactyly].
Gao, W., Ding, J., & Zhou, Z. (2018) · Europe PMC (PubMed Central) · doi:10.7507/1002-1892.201806091 · Cited by 2
Regulation in common: Sponge to zebrafish
Harmston, N. (2020) · Science · doi:10.1126/science.abe9317 · Cited by 2
Rovirosa, L., Tomás-Daza, L., Urmeneta, B., Valencia, A., & Javierre, B. M. (2023) · Journal of Visualized Experiments · doi:10.3791/65316 · Cited by 2
Tada, R., Higashidate, T., Amano, T., Ishikawa, S., Yokoyama, C., Kobari, S., Nara, S., Ishida, K., Kawaguchi, A., Ochi, H., et al. (2023) · Developmental Biology · doi:10.1016/j.ydbio.2023.05.009 · Cited by 3
Chen, Y., Zhao, J., Zhong, C., Kang, Y., Xiong, Z., Huang, J., Li, Z., Liu, Q., Shi, D., Li, X., et al. (2024) · Cell and Tissue Research · doi:10.1007/s00441-024-03944-0 · Cited by 2
Enhancer‐dependent gene regulation in space, time, and malignancies
Blum, B., Dachtler, V., & Feldmann, A. (2025) · International Journal of Cancer · doi:10.1002/ijc.35350 · Cited by 2
Machine learning tools for deciphering the regulatory logic of enhancers in health and disease
Foutadakis, S., Bourika, V., Styliara, I., Koufargyris, P., Safarika, A., & Karakike, E. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1603687 · Cited by 2
fcScan: a versatile tool to cluster combinations of sites using genomic coordinates
Kurdi, A., Khalil, G. A., Khazen, G., & Khoueiry, P. (2020) · BMC Bioinformatics · doi:10.1186/s12859-020-3536-4 · Cited by 2
Xu, J., Chen, X., Teng, X., Wang, X., & Chen, H. (2021) · Annals of Translational Medicine · doi:10.21037/atm-21-2773 · Cited by 2
DNA Methylation in Mammalian and Non-Mammalian Organisms
Moffat, M., James, P., Pennings, S., & Richard, R. (2012) · InTech eBooks · doi:10.5772/38181 · Cited by 2
Retroviral integration sites (RIS) mark cis-regulatory elements
Ng, C. E. L., Ito, Y., & Osato, M. (2008) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2008.10.008 · Cited by 2
Comparative genomic analysis of the false killer whale (Pseudorca crassidens) LMBR1 locus
Kim, D.-W., Choi, S.-H., Kim, R. N., Kim, S.-H., Paik, S., Nam, S.-H., Kim, D., Kim, A., Kang, A., & Park, H.-S. (2010) · Genome · doi:10.1139/g10-043 · Cited by 2
CENTB5 gene expression in humans and mice
Shubina, D. M., Олеговна, С. И., Сломинская, Н. А., Alenina, N. V., Bäder, M., & Patkin, E. L. (2009) · Molecular Biology · doi:10.1134/s0026893309030042 · Cited by 2
Parsing regulatory DNA: General tasks, techniques, and the PhyloGibbs approach
Siddharthan, R. (2007) · Journal of Biosciences · doi:10.1007/s12038-007-0086-0 · Cited by 2
Identification of an alternative splicing isoform of chicken Lmbr1
Huang, Y., Chen, W., Li, N., Deng, X., Kang, X., & Liu, X. (2010) · Molecular Biology Reports · doi:10.1007/s11033-010-0567-3 · Cited by 2
Xie, H., Irwin, D. M., & Zhang, Y. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-520 · Cited by 2
Epigenomic Evolution In Diffuse Large B-Cell Lymphomas
Pan, H., Jiang, Y., Redmond, D., Nie, K., Cerchietti, L. C. A., Shaknovich, R., Melnick, A. M., Tam, W., & Elemento, O. (2013) · Blood · doi:10.1182/blood.v122.21.634.634 · Cited by 2
Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome
Xing, X., Zhu, H., Chen, C., Wang, S. S., Luo, Y., & Zhang, X. (2014) · Genetics and Molecular Research · doi:10.4238/2014.january.17.8 · Cited by 2
The Zebrafish as Model for Deciphering the Regulatory Architecture of Vertebrate Genomes
Rastegar, S., & Strähle, U. (2016) · Advances in genetics · doi:10.1016/bs.adgen.2016.04.003 · Cited by 2
Chromosomal Position Effects and Gene Variegation
Schluth‐Bolard, C., Ottaviani, A., Gilson, É., & Magdinier, F. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-375709-8.00006-x · Cited by 3
Esapa, C. T., Piret, S. E., Nesbit, M. A., Thomas, G. P., Coulton, L., Gallagher, O., Simon, M. M., Kumar, S., Mallon, A., Bellantuono, I., et al. (2018) · JBMR Plus · doi:10.1002/jbm4.10033 · Cited by 2
The molecular genetics related to polydactyly: an updated review
Xie, P., Yuan, F., Zhou, H., Li, X., & Liu, Z. (2021) · Pharmacogenomics Research and Personalized Medicine · doi:10.21037/prpm-20-2 · Cited by 2
Stankiewicz, P. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-039-3_25 · Cited by 2
Kapil, S., Sobti, R. C., & Kaur, T. (2023) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-023-04712-4 · Cited by 2
Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs
Hao, Y., Song, Y., Chen, F., & Tang, J. (2024) · Animal Genetics · doi:10.1111/age.13399 · Cited by 2
Cis‐regulatory control of mammalian Trps1 gene expression
Abrar, M. M., Ali, S., Hussain, I., Khatoon, H., Batool, F., Ghazanfar, S., Corcoran, D., Kawakami, Y., & Abbasi, A. A. (2024) · Journal of Experimental Zoology Part B Molecular and Developmental Evolution · doi:10.1002/jez.b.23246 · Cited by 2
Genetics for paediatric radiologists
Schirwani, S., & Campbell, J. (2020) · Pediatric Radiology · doi:10.1007/s00247-020-04837-4 · Cited by 2
Tine, M., Kuhl, H., Teske, P. R., & Reinhardt, R. (2021) · Ecology and Evolution · doi:10.1002/ece3.7507 · Cited by 1
Sequence Analyses to Study the Evolutionary History and Cis-Regulatory Elements of Hedgehog Genes
Müller, F., & Borycki, A. (2007) · Methods in molecular biology · doi:10.1007/978-1-59745-516-9_16 · Cited by 1
CRISPR Del/Rei: A simple, flexible, and efficient pipeline for scarless genome editingPreprint
Wahbeh, M. H., Feuer, K. L., Yovo, C., Rabie, E., Lam, A.-T. N., Abdollahi, S., Young, L. J., Rike, B., Umamageswaran, A., & Avramopoulos, D. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.18.427163 · Cited by 2
TATTOO-seq delineates spatial and cell type-specific regulatory programs during limb patterningPreprint
Bastide, S., Chomsky, E., Saudemont, B., Loe-Mie, Y., Schmutz, S., Novault, S., Marlow, H., Tanay, A., & Spitz, F. (2022) · bioRxiv · doi:10.1101/2022.03.20.482385 · Cited by 1
MAPT expression is mediated by long-range interactions with cis -regulatory elementsPreprint
Rogers, B. B., Anderson, A. G., Lauzon, S. N., Davis, M. N., Hauser, R. M., Roberts, S. C., Rodríguez-Nunez, I., Trausch‐Lowther, K., Barinaga, E. A., Taylor, J. W., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.03.07.531520 · Cited by 2
Ren, X., Zheng, L., Maliskova, L., Tam, T. W., Sun, Y., Liu, H., Lee, J., Takagi, M. A., Li, B., Ren, B., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.08.616922 · Cited by 2
Solomon, B. D. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404748-8.00017-4 · Cited by 1
Gene regulatory networks controlling neuronal development
Lambert, J. T., Haigh, J. L., & Nord, A. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00027-8 · Cited by 1
Castro, J., Fagerstrom, K., Treaster, S. B., Duryea, J. W., Charles, J. F., & Harris, M. P. (2025) · The Journals of Gerontology Series A · doi:10.1093/gerona/glaf091 · Cited by 1
Ball, K. F., Manu, S., Underhill, A. K., Kim, J., Britton, J. C., Rudd, S. R., Malone, M. M., Amoah, J., Cooper, A. M., Pira, C. U., et al. (2025) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2025.1569573 · Cited by 2
Engineering the Link: From Genome Interaction Maps to Functional Insight
Petersen, F., Westermann, S., Smialkovska, V., Mathony, J., Feldmann, A., & Niopek, D. (2025) · Advanced Biology · doi:10.1002/adbi.202500525 · Cited by 2
Imperfection as the Foundation of Life: Imprinting of DNA Sequence on Water
Myakishev-Rempel, M., Savelev, I. V., Rempel, M. M., Polesskaya, O., & Miller, R. A. (2026) · Studies in Rhythm Engineering · doi:10.1007/978-981-95-1742-8_8 · Cited by 1
Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report
Jung, J. H., Jeong, J., & Kim, S. H. (2026) · Journal of Yeungnam Medical Science · doi:10.12701/jyms.2026.43.8 · Cited by 1
How to build the regulatory genome: a constructionist guide to the cis-regulatory code
Bell, C. C., de Boer, C. G., Camellato, B. R., Delàs, M. J., Ibrahim, D. M., & Montgomery, M. T. (2026) · Development · doi:10.1242/dev.205516 · Cited by 2
Ren, X., Zheng, L., Liu, Y., Maliskova, L., Tam, T. W., Sun, Y., Liu, H., Cui, X., Lee, J., Takagi, M. A., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-70933-y · Cited by 5
Ahituv, N. (2012) · Springer eBooks · doi:10.1007/978-1-4614-1683-8_1 · Cited by 2
Fong, P. K., Lee, N. K., & Abdullah, M. T. (2014) · Lecture notes in computer science · doi:10.1007/978-3-319-12643-2_48 · Cited by 1
Research progress of conserved non-coding elements in metazoan
Feng, J., Li, G., & Wang, Y. (2013) · Hereditas (Beijing) · doi:10.3724/sp.j.1005.2013.00035 · Cited by 1
Long-range control of T-cell development
van Essen, D. (2013) · Blood · doi:10.1182/blood-2013-06-508473 · Cited by 1
Conserved non-coding elements in human genome
Tian, J., Zhao, Z., & Chen, H. (2009) · Hereditas (Beijing) · doi:10.3724/sp.j.1005.2009.01067 · Cited by 1
Combining Genetic and Developmental Methods to Study Musculoskeletal Evolution in Primates
Capellini, T. D., & Dingwall, H. L. (2017) · Cambridge University Press eBooks · doi:10.1017/9781316388907.009 · Cited by 1
Animal Models for Understanding Human Skeletal Defects
Skuplik, I., & Cobb, J. A. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-2389-2_7 · Cited by 1
Transcriptional regulatory elements of hif1α in a distal locus of islet1 in Xenopus laevis
Miyakawa, M., Katada, T., Numa, Y., & Kinoshita, T. (2021) · Comparative Biochemistry and Physiology Part B Biochemistry and Molecular Biology · doi:10.1016/j.cbpb.2021.110598 · Cited by 1
Gu, H., Zhang, P., Xu, M., & Liang, D. (2021) · Zeitschrift für Induktive Abstammungs- und Vererbungslehre · doi:10.1007/s00438-021-01775-0 · Cited by 1
ACES: Analysis of Conservation with an Extensive list of Species
Padhi, E. M., Ng, J. K., Mehinovic, E., Sams, E. I., & Turner, T. N. (2021) · Bioinformatics · doi:10.1093/bioinformatics/btab684 · Cited by 1
Chromosomal etiology of Down syndrome
Ganguly, B. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90456-8.00004-1 · Cited by 1
Genes and Gene Networks Regulating Mineralization
Shapiro, I. M., & Landis, W. J. (2023) · Springer eBooks · doi:10.1007/978-3-031-34304-9_4 · Cited by 1
Shireen, H., Batool, F., Khatoon, H., Parveen, N., Sehar, N. U., Hussain, I., Ali, S., & Abbasi, A. A. (2024) · FEBS Letters · doi:10.1002/1873-3468.15030 · Cited by 1
Pu, S., Wang, Z., Tang, X., Wang, D., Yang, X., Jiang, J., Deng, Y., Xiang, B., Yang, J., Wang, X., et al. (2024) · Human Genetics · doi:10.1007/s00439-024-02709-7 · Cited by 1
Casco-Robles, M., Ikeda, R., Maruo, F., & Chiba, C. (2024) · Biomedicines · doi:10.3390/biomedicines12112505
Annotation, genetics and transcriptomics
Mott, R. (2008) · Springer eBooks · doi:10.1007/978-3-211-75123-7_7 · Cited by 1
From Oligodactyly to Polydactyly
Chiang, C. C. (2007) · Springer eBooks · doi:10.1007/0-387-33777-6_11 · Cited by 1
Marques, B., Ferreira, C. M. P., Brito, F., Pedro, S. N., Alves, C., Lourenço, T., Amorim, M. Z., & Correia, H. (2016) · Molecular Cytogenetics · doi:10.1186/s13039-016-0295-z · Cited by 1
Classification of Congenital Deformities of Hands and Upper Limbs and Selection of Surgery Timing
Wang, B., Wang, W., & Ni, F. (2017) · Plastic and reconstructive surgery · doi:10.1007/978-981-10-5101-2_3 · Cited by 1
Visualizing long-range enhancer–promoter interaction
Tsai, A., & Crocker, J. (2018) · Nature Genetics · doi:10.1038/s41588-018-0198-5 · Cited by 1
Distal Dorsal Dimelia: A Disturbance of Dorsal-Ventral Digit Development
Habenicht, R., Mann, M., Guéro, S., Ezaki, M., & Oberg, K. C. (2018) · The Journal Of Hand Surgery · doi:10.1016/j.jhsa.2018.07.011 · Cited by 1
Pancreatic plasticity: epigenetic mechanisms and connections to neoplasia
David, C. J. (2019) · Journal of Pancreatology · doi:10.1097/jp9.0000000000000036 · Cited by 1
Cao, R., Liu, S., Chai, W., & Shen, P. (2020) · DNA and Cell Biology · doi:10.1089/dna.2019.5236 · Cited by 1
Jj, González-Aguilera, Fernández-Miñán, Vázquez-Marín, Parra-Acero, Cross, Jw, Rigby, Pwj, Carvajal, et al. (2014) · Genome Research · doi:10.1101/gr.163915.113 · Cited by 49
Akerman, İ., Maestro, M. A., De Franco, E., Grau, V., Flanagan, S. E., García-Hurtado, J., Mittler, G., Ravassard, P., Piemonti, L., Ellard, S., et al. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.2.12 · Cited by 1
Finding and Verifying Enhancers for Endothelial-Expressed Genes
Neal, A., Rodriguez‐Caro, H., & Val, S. D. (2022) · Methods in molecular biology · doi:10.1007/978-1-0716-2059-5_28 · Cited by 1
Zeng, L., Jin, J., Luo, F.-M., Sheng, Y., Wu, P., & Xiang, R. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.797978 · Cited by 1
Transcriptional Control Leading to Clinical Outcomes in Breast Cancer Cases
Aftab, A., Khan, R., Hameed, U., Abbas, T., & Ahmad, B. (2022) · Springer eBooks · doi:10.1007/978-981-19-0197-3_13 · Cited by 1
Magdinier, F., & Robin, J. D. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-91909-8.00003-7 · Cited by 1
Spatial and Temporal Regulation of Transgene Expression in Fish
MacDonald, R. B., & Ekker, M. (2011) · Wiley eBooks · doi:10.1002/9780470963159.ch15 · Cited by 1
Limb Development Anomalies: Genetics
Manouvrier‐Hanu, S., Petit, F., Holder‐Espinasse, M., & Escande, F. (2012) · Wiley eBooks · doi:10.1002/9780470015902.a0005986.pub2 · Cited by 1
Mongin, E., Dewar, K., & Blanchette, M. (2010) · Lecture notes in computer science · doi:10.1007/978-3-642-16181-0_18 · Cited by 1
Ramos, C. A. (2013) · doi:10.31979/etd.rh9z-z2ej · Cited by 1
Rao, A. U. K., States, D. J., Hero, A. O., & Engel, J. D. (2010) · Journal of Bioinformatics and Computational Biology · doi:10.1142/s0219720010004756 · Cited by 1
REVIEW ARTICLE Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
Kleinjan, D. A., & van Heyningen, V. (2005) · Cited by 1
Identification and characterization of conserved regulatory elements by comparative genomics
Mathavan, K. J. (2008) · National University of Singapore · Cited by 1
Aron, S. (2012) · University of the Witwatersrand, Johannesburg Institutional Repository on DSpace (University of the Witwatersrand, Johannesburg) · Cited by 1
Genomic Regulation of the Shox2 Gene during Mouse Limb Development
Abassah‐Oppong, S. (2016) · Libraries and Cultural Resources (University of Calgary) · doi:10.11575/prism/26274 · Cited by 1
Analysis of the cis-regulatory structure of developmentally regulated genes in zebrafish embryo
Kalmár, É. (2009) · heiDOK (Heidelberg University) · doi:10.11588/heidok.00009443 · Cited by 1
Kochenova, E. A., Agranovich, O. Е., Trofimova, S. I., & Nikitina, A. P. (2018) · Pediatric Traumatology Orthopaedics and Reconstructive Surgery · doi:10.17816/ptors6492-97 · Cited by 1
Yang, X., Shen, Q., Sulaiman, X., Liu, H., Peng, M., & Zhang, Y. (2017) · Hereditas · doi:10.1186/s41065-017-0040-6 · Cited by 1
Qin, T., Lee, C., Cavalcante, R. G., Orchard, P., Yao, H., Zhang, H., Wang, S., Patil, S. B., Boyle, A. P., & Sartor, M. A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.22.351049 · Cited by 1
The Role of ARID1A in Oncogenic Transcriptional (de)Regulation in Colorectal Cancer
Sen, M. (2019) · doi:10.53846/goediss-7561 · Cited by 1
Direct and indirect effects of a trematode parasite on the endemic freshwater fish Galaxias anomalus
Thomas, H. (2014) · Otago University Research Archive (University of Otago) · Cited by 1
Taylor, T., Sikorska, N., Shchuka, V. M., Chahar, S., Ji, C., Macpherson, N. N., Moorthy, S. D., Mitchell, J. A., & Sexton, T. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.02.09.479674 · Cited by 1
Epigenetic priming of embryonic enhancer elements coordinates developmental gene networksPreprint
Todd, C. D., Ijaz, J., Torabi, F., Dovgusha, O., Bevan, S., Cracknell, O., Lohoff, T., Clark, S., Argelaguet, R., Pearce, J., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.09.611867 · Cited by 1
TRANCERs: Engineering enhancers into autonomous tissue-specific expression cassettesPreprint
Molina, E. K. B., Smith, A., López‐Cuevas, P., Nicholls, M., Sharma, S., White, R. M., Milne, T. A., & Hughes, J. R. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.27.684763 · Cited by 2
Triphalangeal Thumb-Polydactyly Syndrome
Mundlos, S., & Horn, D. (2014) · Springer eBooks · doi:10.1007/978-3-540-95928-1_8
Navrátilová, P. (2008) · NORA - Norwegian Open Research Archives
Ryan, B. M. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-394447-4.10044-6
Molekulare Genetik von Fehlbildungen und Wachstumsstörungen des Skeletts bei Neugeborenen
Mundlos, S. (2005) · Springer eBooks · doi:10.1007/3-540-26524-4_9
Long-range enhancer-promoter interactions: the Sine oculis story
Strom, A. R. (2013) · Deep Blue (University of Michigan)
Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations
VanderMeer, J. E., & Ahituv, N. (2012) · Springer eBooks · doi:10.1007/978-1-4614-1683-8_5
Rao, A. U. K., Hero, A. O., States, D. J., & Engel, J. D. (2007) · arXiv (Cornell University) · doi:10.48550/arxiv.0710.1889
Phenotype-guided disease investigation using bioinformatics.
Oti, M. (2010) · Radboud Repository (Radboud University)
Keeping the genome in shape : a role for protein and RNA
Splinter, E. (2011) · EUR Research Repository (Erasmus University Rotterdam)
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
