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 201–300 of 999
Evolution of transcriptional enhancers and animal diversity
Rubinstein, M., & de Souza, F. S. J. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0017 · Cited by 79
Mead, T., Wang, Q.-Q., Bhattaram, P., Dy, P., Afelik, S., Jensen, J., & Lefebvre, V. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt140 · Cited by 91
Mapping the Shh long-range regulatory domain
Anderson, E., Devenney, P. S., Hill, R., & Lettice, L. (2014) · Development · doi:10.1242/dev.108480 · Cited by 86
Self-citationTranscriptional enhancers and their communication with gene promoters
Ray-Jones, H., & Spivakov, M. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03903-w · Cited by 81
Furniss, D., Lettice, L., Taylor, I. B., Critchley, P., Giele, H., Hill, R., & Wilkie, A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn141 · Cited by 100
Self-citationAcemel, R. D., Maeso, I., & Gómez-Skármeta, J. L. (2017) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.265 · Cited by 82
Microdeletion and Microduplication Syndromes
Vissers, L. E. L. M., & Stankiewicz, P. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-507-7_2 · Cited by 86
Meier, I. D., Bernreuther, C., Tilling, T., Neidhardt, J., Wong, Y. W., Schulze, C., Streichert, T., & Schachner, M. (2010) · The FASEB Journal · doi:10.1096/fj.09-140749 · Cited by 79
Enhancer and super‐enhancer: Positive regulators in gene transcription
Peng, Y., & Zhang, Y. (2018) · Animal Models and Experimental Medicine · doi:10.1002/ame2.12032 · Cited by 78
An atlas of regulatory elements in chicken: A resource for chicken genetics and genomics
Pan, Z., Wang, Y., Wang, M., Wang, Y., Zhu, X., Gu, S. V., Zhong, C., An, L., Shan, M., Damas, J., et al. (2023) · Science Advances · doi:10.1126/sciadv.ade1204 · Cited by 85
Nagel, S., Scherr, M., Kel, A. E., Hornischer, K., Crawford, G. E., Kaufmann, M., Meyer, C., Drexler, H. G., & MacLeod, R. A. F. (2007) · Cancer Research · doi:10.1158/0008-5472.can-06-2615 · Cited by 81
Callier, P., Calvel, P., Matevossian, A., Makrythanasis, P., Bernard, P., Kurosaka, H., Vannier, A., Thauvin‐Robinet, C., Borel, C., Mazaud‐Guittot, S., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004340 · Cited by 78
Identification of cis-regulatory elements for MECP2 expression
Liu, J., & Francke, U. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl099 · Cited by 79
Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny
Ahituv, N., Prabhakar, S., Poulin, F., Rubin, E. M., & Couronne, O. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi338 · Cited by 78
The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels
Mehta, N. N., Li, M., William, D. A., Khera, A. V., DerOhannessian, S. L., Qu, L., Ferguson, J. F., McLaughlin, C., Shaikh, L. H., Shah, R., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr091 · Cited by 77
Buffering and Amplifying Transcriptional Noise During Cell Fate Specification
Urban, E., & Johnston, R. J. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00591 · Cited by 75
The developing limb and the control of the number of digits
Talamillo, A., Bastida, M. F., Fernandez‐Teran, M., & Ros, M. A. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00404.x · Cited by 78
Improved regulatory element prediction based on tissue-specific local epigenomic signatures
He, Y., Gorkin, D. U., Dickel, D. E., Nery, J. R., Castanon, R., Lee, A. Y., Shen, Y., Visel, A., Pennacchio, L. A., Ren, B., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1618353114 · Cited by 70
Genetic basis of mitochondrial diseases
Gušić, M., & Prokisch, H. (2021) · FEBS Letters · doi:10.1002/1873-3468.14068 · Cited by 79
Developmental genetic basis for the evolution of pelvic fin loss in the pufferfish Takifugu rubripes
Tanaka, M., Hale, L. A., Amores, A., Yan, Y., Cresko, W. A., Suzuki, T., & Postlethwait, J. H. (2005) · Developmental Biology · doi:10.1016/j.ydbio.2005.02.016 · Cited by 74
Enhancers: From Developmental Genetics to the Genetics of Common Human Disease
Williamson, I., Hill, R. E., & Bickmore, W. A. (2011) · Developmental Cell · doi:10.1016/j.devcel.2011.06.008 · Cited by 71
cis‐regulatory mutations are a genetic cause of human limb malformations
VanderMeer, J. E., & Ahituv, N. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22535 · Cited by 76
Vavouri, T., McEwen, G. K., Woolfe, A., Gilks, W. R., & Elgar, G. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.10.005 · Cited by 73
Long-range regulation of ?? globin gene expression during erythropoiesis
Higgs, D. R., & Wood, W. G. (2008) · Current Opinion in Hematology · doi:10.1097/moh.0b013e3282f734c4 · Cited by 74
Classification and Developmental Biology of Congenital Anomalies of the Hand and Upper Extremity
Manske, P. R., & Oberg, K. C. (2009) · Journal of Bone and Joint Surgery · doi:10.2106/jbjs.i.00008 · Cited by 74
Niedermaier, M., Schwabe, G. C., Fees, S. A., Helmrich, A., Brieske, N., Seemann, P., Hecht, J., Seitz, V., Stricker, S., Leschik, G., et al. (2005) · Journal of Clinical Investigation · doi:10.1172/jci200523675 · Cited by 74
Perenthaler, E., Yousefi, S., Niggl, E., & Barakat, T. S. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00352 · Cited by 75
Using transgenic reporter assays to functionally characterize enhancers in animals
Kvon, E. Z. (2015) · Genomics · doi:10.1016/j.ygeno.2015.06.007 · Cited by 73
Baral, A., Kumar, P., Halder, R., Mani, P., Yadav, V. K., Singh, A., Das, S. K., & Chowdhury, S. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr1258 · Cited by 72
Genetic Tailors: CTCF and Cohesin Shape the Genome During Evolution
Rudan, M. V., & Hadjur, S. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.09.004 · Cited by 70
Sironi, M., Menozzi, G., Comi, G. P., Cagliani, R., Bresolin, N., & Pozzoli, U. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi257 · Cited by 71
Yang, H., Zhang, H., Luan, Y., Liu, T., Yang, W., Roberts, K. G., Qian, M., Zhang, B., Yang, W., Pérez-Andreu, V., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-00993-x · Cited by 75
Development of five digits is controlled by a bipartite long-range cis -regulator
Lettice, L. A., Williamson, I., Devenney, P. S., Kilanowski, F. M., Dorin, J. R., & Hill, R. E. (2014) · Development · doi:10.1242/dev.095430 · Cited by 76
Self-citationEvolution of Gene Regulation in Humans
Reilly, S. K., & Noonan, J. P. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-045935 · Cited by 66
Enhancers: bridging the gap between gene control and human disease
Karnuta, J. M., & Scacheri, P. C. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy167 · Cited by 77
Lettice, L. A., Devenney, P., De Angelis, C., & Hill, R. E. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.07.037 · Cited by 70
Self-citationCONDOR: a database resource of developmentally associated conserved non-coding elements
Woolfe, A., Goode, D. K., Cooke, J. E., Callaway, H., Smith, S. F., Snell, P., McEwen, G. K., & Elgar, G. (2007) · BMC Developmental Biology · doi:10.1186/1471-213x-7-100 · Cited by 70
The chromatin signatures of enhancers and their dynamic regulation
Barral, A., & Déjardin, J. (2023) · Nucleus · doi:10.1080/19491034.2022.2160551 · Cited by 78
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Turner, T. N., & Eichler, E. E. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.11.002 · Cited by 74
Goode, D. K., Snell, P., SMITH, S., COOKE, J., & Elgar, G. (2005) · Genomics · doi:10.1016/j.ygeno.2005.04.006 · Cited by 68
Nielsen, D. A., Ji, F., Yuferov, V. P., Ho, A., He, C., Ott, J., & Kreek, M. J. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a2106 · Cited by 67
Fantauzzo, K. A., Tadin‐Strapps, M., You, Y., Mentzer, S. E., Baumeister, F. A. M., Cianfarani, S., Maldergem, L. V., Warburton, D., Sundberg, J. P., & Christiano, A. M. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn247 · Cited by 68
The regulatory landscapes of developmental genes
Bolt, C. C., & Duboule, D. (2020) · Development · doi:10.1242/dev.171736 · Cited by 66
Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
Verhagen, J. M. A., Diderich, K. E. M., Oudesluijs, G., Mancini, G. M. S., Eggink, A. J., Verkleij‐Hagoort, A. C., Groenenberg, I. A. L., Willems, P. J., du Plessis, F. A., de Man, R. A., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35517 · Cited by 67
Zhang, S., Plummer, D., Lu, L., Cui, J., Xu, W., Wang, M., Liu, X., Prabhakar, N., Shrinet, J., Srinivasan, D., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01116-w · Cited by 63
A Genetic Approach to the Transcriptional Regulation ofHoxGene Clusters
Tschopp, P., & Duboule, D. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-102209-163429 · Cited by 71
Zhang, Z., Sui, P., Dong, A., Hassell, J. A., Cserjesi, P., Chen, Y., Behringer, R. R., & Sun, X. (2010) · Development · doi:10.1242/dev.051789 · Cited by 67
The interdependence of gene-regulatory elements and the 3D genome
Vermunt, M. W., Zhang, D., & Blobel, G. A. (2018) · The Journal of Cell Biology · doi:10.1083/jcb.201809040 · Cited by 72
Copy-Number Variations, Noncoding Sequences, and Human Phenotypes
Klopocki, E., & Mundlos, S. (2011) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082410-101404 · Cited by 68
Signaling Pathways in Human Skeletal Dysplasias
Baldridge, D., Shchelochkov, O. A., Kelley, B., & Lee, B. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-150158 · Cited by 67
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects
Fakhouri, W. D., Rahimov, F., Attanasio, C., Kouwenhoven, E. N., Lima, R. L. F. D., Félix, T. M., Nitschke, L., Huver, D., Barrons, J., Kousa, Y. A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt664 · Cited by 65
Regulation of Hedgehog Signalling Inside and Outside the Cell
Ramsbottom, S. A., & Pownall, M. E. (2016) · Journal of Developmental Biology · doi:10.3390/jdb4030023 · Cited by 70
Shaping faces: genetic and epigenetic control of craniofacial morphogenesis
Selleri, L., & Rijli, F. M. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00594-w · Cited by 70
Lohan, S., Spielmann, M., Doelken, S., Flöttmann, R., Muhammad, F., Baig, S., Wajid, M., Hülsemann, W., Habenicht, R., Kjaer, K., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12352 · Cited by 61
The complex transcription regulatory landscape of our genome: control in three dimensions
Splinter, E., & de Laat, W. L. (2011) · The EMBO Journal · doi:10.1038/emboj.2011.344 · Cited by 66
Masuya, H., Sezutsu, H., Sakuraba, Y., Sagai, T., Hosoya, M., Kaneda, H., Miura, I., Kobayashi, K., Sumiyama, K., Shimizu, A., et al. (2007) · Genomics · doi:10.1016/j.ygeno.2006.09.005 · Cited by 64
Zhu, Y., Tazearslan, C., & Suh, Y. (2017) · Experimental Biology and Medicine · doi:10.1177/1535370217713750 · Cited by 68
Analysis of the relationship between coexpression domains and chromatin 3D organization
Soler-Oliva, M. E., Guerrero-Martinez, J. A., Bachetti, V., & Reyes, J. C. (2017) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1005708 · Cited by 61
Functional autonomy of distant-acting human enhancers
Visel, A., Akiyama, J. A., Shoukry, M. I., Afzal, V., Rubin, E. M., & Pennacchio, L. A. (2009) · Genomics · doi:10.1016/j.ygeno.2009.02.002 · Cited by 65
Hawwari, A., & Krangel, M. S. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20050680 · Cited by 63
Hill, R. E. (2007) · Development Growth & Differentiation · doi:10.1111/j.1440-169x.2007.00943.x · Cited by 63
STARRPeaker: uniform processing and accurate identification of STARR-seq active regions
Lee, D., Shi, M., Moran, J. R., Wall, M., Zhang, J., Liu, J. J., Fitzgerald, D., Kyono, Y., Ma, L., White, K. P., et al. (2020) · Genome biology · doi:10.1186/s13059-020-02194-x · Cited by 59
Vavouri, T., & Elgar, G. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.05.002 · Cited by 61
Genetics of congenital heart disease: the contribution of the noncoding regulatory genome
Postma, A. V., Bezzina, C. R., & Christoffels, V. M. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.98 · Cited by 64
Holoprosencephaly: new models, new insights
Krauss, R. S. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399407000440 · Cited by 61
Integrating one-dimensional and three-dimensional maps of genomes
Naumova, N., & Dekker, J. (2010) · Journal of Cell Science · doi:10.1242/jcs.051631 · Cited by 62
Babu, D., & Fullwood, M. J. (2015) · Nucleus · doi:10.1080/19491034.2015.1106676 · Cited by 59
Enhancer-gene specificity in development and disease
Pachano, T., Haro, E., & Rada-Iglesias, Á. (2022) · Development · doi:10.1242/dev.186536 · Cited by 58
Anteroposterior patterning in the limb and digit specification: Contribution of mouse genetics
Robert, B., & Lallemand, Y. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20890 · Cited by 59
Chromatin Conformation in Development and Disease
Boltsis, I., Grosveld, F. G., Giraud, G., & Kolovos, P. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.723859 · Cited by 59
Transcription regulation by distal enhancers
Stadhouders, R., van den Heuvel, A., Kolovos, P., Jorna, R., Leslie, K. D., Grosveld, F. G., & Soler, É. (2012) · Transcription · doi:10.4161/trns.20720 · Cited by 60
Schoenfelder, S., Mifsud, B., Senner, C. E., Todd, C. D., Chrysanthou, S., Darbo, E., Hemberger, M., & Branco, M. R. (2018) · Nature Communications · doi:10.1038/s41467-018-06666-4 · Cited by 54
Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease
Tena, J. J., & Santos-Pereira, J. M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.702787 · Cited by 65
Schneider, E., Märker, T., Daser, A., Frey-Mahn, G., Beyer, V., Farcas, R., Schneider-Rätzke, B., Kohlschmidt, N., Grossmann, B., Bauß, K., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn395 · Cited by 63
The many lives of SHH in limb development and evolution
López-Rı́os, J. (2016) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.12.018 · Cited by 58
Characteristic of HPV Integration in the Genome and Transcriptome of Cervical Cancer Tissues
Li, W., Qi, Y., Cui, X., Huo, Q., Zhu, L., Zhang, A., Tan, M., Hong, Q., Yang, Y., Zhang, H., et al. (2018) · BioMed Research International · doi:10.1155/2018/6242173 · Cited by 57
Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities
Lettice, L. A., & Hill, R. E. (2005) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2005.04.002 · Cited by 56
Self-citationHing, B., Davidson, S., Lear, M., Breen, G., Quinn, J., McGuffin, P., & MacKenzie, A. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.11.030 · Cited by 52
Zhang, J., Wu, S. Y., Jiang, L., Wang, J., Zhang, X., Guo, X., Wu, C. ‐., & Wan, J. (2014) · Plant Biology · doi:10.1111/plb.12255 · Cited by 56
Contrasting genetic paths to morphological and physiological evolution
Liao, B., Weng, M., & Zhang, J. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910339107 · Cited by 55
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
DeStefano, G. M., Fantauzzo, K. A., Petukhova, L., Kurban, M., Tadin‐Strapps, M., Levy, B., Warburton, D., Cirulli, E. T., Han, Y., Sun, X., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1216412110 · Cited by 59
Pbx homeodomain proteins: TALEnted regulators of limb patterning and outgrowth
Capellini, T. D., Zappavigna, V., & Selleri, L. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22605 · Cited by 57
Venkatesh, B., & Yap, W. H. (2004) · BioEssays · doi:10.1002/bies.20134 · Cited by 55
Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb
Xu, B., Hrycaj, S., McIntyre, D. C., Baker, N. C., Takeuchi, J., Jeannotte, L., Gaber, Z. B., Novitch, B. G., & Wellik, D. M. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1315075110 · Cited by 54
Leukaemia cell of origin identified by chromatin landscape of bulk tumour cells
George, J., Uyar, A., Young, K. A., Kuffler, L., Waldron-Francis, K., Márquez, E. J., Ucar, D., & Trowbridge, J. J. (2016) · Nature Communications · doi:10.1038/ncomms12166 · Cited by 54
Maas, S. A., & Fallon, J. F. (2005) · Developmental Dynamics · doi:10.1002/dvdy.20254 · Cited by 54
A self-amplifying loop of YAP and SHH drives formation and expansion of heterotopic ossification
Cong, Q., Liu, Y., Zhou, T., Zhou, Y., Xu, R., Cheng, C., Chung, H. S., Yan, M., Zhou, H., Liao, Z., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abb2233 · Cited by 52
Multicenter integrated analysis of noncoding CRISPRi screens
Yao, D., Tycko, J., Oh, J. W., Bounds, L. R., Gosai, S. J., Lataniotis, L., Mackay-Smith, A., Doughty, B. R., Gabdank, I., Schmidt, H., et al. (2024) · Nature Methods · doi:10.1038/s41592-024-02216-7 · Cited by 65
The molecular basis of human congenital limb malformations
Zúñiga, A., Zeller, R., & Probst, S. (2012) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.59 · Cited by 52
Genome-wide Epigenetic Data Facilitate Understanding of Disease Susceptibility Association Studies
Hardison, R. C. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.r112.352427 · Cited by 53
EP-DNN: A Deep Neural Network-Based Global Enhancer Prediction Algorithm
Kim, S., Harwani, M., Grama, A. Y., & Chaterji, S. (2016) · Scientific Reports · doi:10.1038/srep38433 · Cited by 53
David, D., Marques, B., Ferreira, C. M. P., Vieira, P., Corona‐Rivera, A., Ferreira, J. C., & van Bokhoven, H. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.2 · Cited by 53
Developmental, genetic, and genomic insights into the evolutionary loss of limbs in snakes
Leal, F., & Cohn, M. J. (2017) · genesis · doi:10.1002/dvg.23077 · Cited by 57
Lange, A., Nemeschkal, H., & Müller, G. (2014) · Evolutionary biology · doi:10.1007/s11692-013-9267-y · Cited by 26
Yankee, T. N., Oh, S., Winchester, E. W., Wilderman, A. S., Robinson, K. R., Gordon, T., Rosenfeld, J. A., VanOudenhove, J., Scott, D. A., Leslie, E. J., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40363-1 · Cited by 55
GATA6 Is a Crucial Regulator of Shh in the Limb Bud
Kozhemyakina, E. A., Ionescu, A. M., & Lassar, A. B. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004072 · Cited by 50
Albuisson, J., Isidor, B., Giraud, M., Pichon, O., Marsaud, T., David, A., Caignec, C. L., & Bezieau, S. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01465.x · Cited by 51
Schwarzer, W., & Spitz, F. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.03.014 · Cited by 52
Msx1 and Msx2 in limb mesenchyme modulate digit number and identity
Bensoussan, V., Lallemand, Y., Cloment, C. S., & Robert, B. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22619 · Cited by 51
Franke, M., Daly, A., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Pétrossians, P., Tena, J. J., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.02.002 · Cited by 50
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
