Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Open accessAbstract
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
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
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?
NIPBL is associated with Cornelia de Lange Syndrome.
“NIPBL, a gene associated with Cornelia de Lange Syndrome (80)”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [80]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Parametric and nonparametric linkage analysis: a unified multipoint approach.
Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883 · see citing works
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Li, L., Krantz, I. D., Deng, Y., Genin, A., Banta, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-243 · Cited by 1,277 · see citing works
Self-citationCohesin’s binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins
Ciosk, R., Shirayama, M., Shevchenko, A., Tanaka, T., Toth, A., Shevchenko, A., & Nasmyth, K. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)80420-7 · Cited by 755 · see citing works
Ganguly, A. A., Rock, M. J., & Prockop, D. J. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.21.10325 · Cited by 678 · see citing works
Bulman, M. P., Kusumi, K., Frayling, T. M., McKeown, C., Garrett, C., Lander, E. S., Krumlauf, R. K., Hattersley, A. T., Ellard, S., & Turnpenny, P. D. (2000) · Nature Genetics · doi:10.1038/74307 · Cited by 393 · see citing works
de Lange syndrome: A clinical review of 310 individuals
Jackson, L. G., Kline, A. D., Barr, M., & Koch, S. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470703 · Cited by 331 · see citing works
Self-citationRollins, R. A., Morcillo, P., & Dorsett, D. (1999) · Genetics · doi:10.1093/genetics/152.2.577 · Cited by 304 · see citing works
Neuwald, A. F., & Hirano, T. (2000) · Genome Research · doi:10.1101/gr.147400 · Cited by 284 · see citing works
Regulation of Lens Fiber Cell Differentiation by Transcription Factor c-Maf
Kawauchi, S., Takahashi, S., Nakajima, O., Ogino, H., Morita, M., Nishizawa, M., Yasuda, K., & Yamamoto, M. P. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.27.19254 · Cited by 240 · see citing works
Self-citationThe Brachmann‐de Lange syndrome
Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320220110 · Cited by 168 · see citing works
Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization
Krantz, I. D., Rand, E. B., Genin, A., Hunt, P., Jones, M. C., Louis, A. A., Graham, J. M., Bhatt, S., Piccoli, D. A., & Spinner, N. B. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970502)70:1 · Cited by 117 · see citing works
Self-citationBrachmann‐de Lange syndrome. Delineation of the clinical phenotype
Ireland, M., Donnai, D., & Burn, J. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470705 · Cited by 114 · see citing works
Opitz, J. M., Segal, A. T., Lehrke, R., & Nadler, H. L. (1964) · The Lancet · doi:10.1016/s0140-6736(64)90980-8 · Cited by 89 · see citing works
Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome
Hulinsky, R. S., Byrne, J. L. B., Lowichik, A., & Viskochil, D. H. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30856 · Cited by 64 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Mediator and cohesin connect gene expression and chromatin architecture
Kagey, M. H., Newman, J. J., Bilodeau, S., Zhan, Y., Orlando, D. A., van Berkum, N. L., Ebmeier, C. C., Goossens, J., Rahl, P. B., Levine, S. S., et al. (2010) · Nature · doi:10.1038/nature09380 · Cited by 1,939 · see citing works
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., van Bakel, H., Varghese, M., Wang, Y., et al. (2018) · Science · doi:10.1126/science.aat8127 · Cited by 1,247 · see citing works
Cohesin mediates transcriptional insulation by CCCTC-binding factor
Wendt, K. S., Yoshida, K., Itoh, T., Bando, M., Koch, B., Schirghuber, E., Tsutsumi, S., Nagae, G., Ishihara, K., Mishiro, T., et al. (2008) · Nature · doi:10.1038/nature06634 · Cited by 1,193 · see citing works
Control of the Embryonic Stem Cell State
Young, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.01.032 · Cited by 1,189 · see citing works
Cohesin: Its Roles and Mechanisms
Nasmyth, K., & Haering, C. H. (2009) · Annual Review of Genetics · doi:10.1146/annurev-genet-102108-134233 · Cited by 967 · see citing works
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Ma, X., Liu, Y., Liu, Y., Alexandrov, L. B., Edmonson, M. N., Gawad, C., Zhou, X., Li, Y., Rusch, M. C., Easton, J., et al. (2018) · Nature · doi:10.1038/nature25795 · Cited by 901 · see citing works
Cohesins Functionally Associate with CTCF on Mammalian Chromosome Arms
Parelho, V., Hadjur, S., Spivakov, M., Leleu, M., Sauer, S., Gregson, H. C., Jarmuz, A., Canzonetta, C., Webster, Z., Nesterova, T., et al. (2008) · Cell · doi:10.1016/j.cell.2008.01.011 · Cited by 900 · see citing works
Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
Kleinjan, D. A., & van Heyningen, V. (2004) · The American Journal of Human Genetics · doi:10.1086/426833 · Cited by 868 · see citing works
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 854 · see citing works
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., Saitoh, K., Komata, M., Katou, Y., Clark, D., et al. (2012) · Nature · doi:10.1038/nature11316 · Cited by 577 · see citing works
Self-citationGenetics of cleft lip and cleft palate
Leslie, E. J., & Marazita, M. L. (2013) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31381 · Cited by 573 · see citing works
The cohesin complex and its roles in chromosome biologyPreprint
Peters, J., Tedeschi, A., & Schmitz, J. (2008) · Genes & Development · doi:10.1101/gad.1724308 · Cited by 524 · see citing works
CTCF physically links cohesin to chromatin
Rubio, E. D., Reiss, D. J., Welcsh, P. L., Disteche, C. M., Filippova, G. N., Baliga, N. S., Aebersold, R., Ranish, J. A., & Krumm, A. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0801273105 · Cited by 511 · see citing works
Deardorff, M. A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pié, J., Gil-Rodríguez, C., Arnedo, M., Loeys, B., Kline, A. D., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/511888 · Cited by 508 · see citing works
Self-citationGenome folding through loop extrusion by SMC complexes
Davidson, I. F., & Peters, J. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00349-7 · Cited by 507 · see citing works
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Musio, A., Selicorni, A., Focarelli, M. L., Gervasini, C., Milani, D., Russo, S., Vezzoni, P., & Larizza, L. (2006) · Nature Genetics · doi:10.1038/ng1779 · Cited by 468 · see citing works
Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers
Barber, T. D., McManus, K. J., Yuen, K. W. Y., Reis, M. M., Parmigiani, G., Shen, D., Barrett, I. J., Nouhi, Y., Spencer, F. A., Markowitz, S. D., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712384105 · Cited by 432 · see citing works
Yan, J., Enge, M., Whitington, T., Dave, K., Liu, J., Sur, I., Schmierer, B., Jolma, A., Kivioja, T., Taipale, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.07.034 · Cited by 376 · see citing works
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., et al. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0031-0 · Cited by 375 · see citing works
Arndt, T. L., Stodgell, C., & Rodier, P. M. (2005) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.11.001 · Cited by 369 · see citing works
Stedman, W., Kang, H., Lin, S., Kissil, J. L., Bartolomei, M. S., & Lieberman, P. M. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.1 · Cited by 366 · see citing works
A mechanism of cohesin‐dependent loop extrusion organizes zygotic genome architecture
Gassler, J., Brandão, H. B., Imakaev, M., Flyamer, I. M., Ladstätter, S., Bickmore, W. A., Peters, J., Mirny, L. A., & Tachibana, K.-E. K. (2017) · The EMBO Journal · doi:10.15252/embj.201798083 · Cited by 363 · see citing works
Dynamic molecular linkers of the genome: the first decade of SMC proteinsPreprint
Losada, A., & Hirano, T. (2005) · Genes & Development · doi:10.1101/gad.1320505 · Cited by 356 · see citing works
A CTCF-independent role for cohesin in tissue-specific transcriptionPreprint
Schmidt, D., Schwalie, P. C., Ross-Innes, C. S., Hurtado, A., Brown, G. D., Carroll, J. S., Flicek, P., & Odom, D. T. (2010) · Genome Research · doi:10.1101/gr.100479.109 · Cited by 356 · see citing works
Cohesin Is Required for Higher-Order Chromatin Conformation at the Imprinted IGF2-H19 Locus
Nativio, R., Wendt, K. S., Ito, Y., Huddleston, J. E., Uribe‐Lewis, S., Woodfine, K., Krueger, C., Reik, W., Peters, J., & Murrell, A. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000739 · Cited by 325 · see citing works
Gillis, L. A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A. D., Li, H.-H., Devoto, M., Jackson, L. G., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/424698 · Cited by 312 · see citing works
Self-citationCell-Type-Specific TEV Protease Cleavage Reveals Cohesin Functions in Drosophila Neurons
Pauli, A., Althoff, F., Oliveira, R. A., Heidmann, S. K., Schuldiner, O., Lehner, C. F., Dickson, B. J., & Nasmyth, K. (2008) · Developmental Cell · doi:10.1016/j.devcel.2007.12.009 · Cited by 276 · see citing works
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M. A., Jackson, L. G., FitzPatrick, D. R., Levin, A. V., & Selicorni, A. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31757 · Cited by 274 · see citing works
Self-citationWatrin, E., Schleiffer, A., Tanaka, K., Eisenhaber, F., Nasmyth, K., & Peters, J.-M. (2006) · Current Biology · doi:10.1016/j.cub.2006.03.049 · Cited by 270 · see citing works
RAD21 Mutations Cause a Human Cohesinopathy
Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil‐Rodríguez, M. C., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.019 · Cited by 270 · see citing works
Self-citationZeng, W., de Greef, J. C., Chen, Y.-Y., Chien, R., Kong, X., Gregson, H. C., Winokur, S. T., Pyle, A. D., Robertson, K. D., Schmiesing, J. A., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000559 · Cited by 267 · see citing works
Condensins: Organizing and Segregating the Genome
Hirano, T. (2005) · Current Biology · doi:10.1016/j.cub.2005.03.037 · Cited by 262 · see citing works
Shaffer, L. G., Kashork, C. D., Saleki, R., Rorem, E. A., Sundin, K., Ballif, B. C., & Bejjani, B. A. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2006.02.006 · Cited by 248 · see citing works
Patterns of coding variation in the complete exomes of three Neandertals
Castellano, S., Parra, G., Sánchez-Quinto, F. A., Racimo, F., Kuhlwilm, M., Kircher, M., Sawyer, S., Fu, Q., Heinze, A., Nickel, B., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405138111 · Cited by 247 · see citing works
The Prevalence and Phenomenology of Repetitive Behavior in Genetic Syndromes
Moss, J. F., Oliver, C., Arron, K., Burbidge, C., & Berg, K. (2008) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-008-0655-6 · Cited by 245 · see citing works
Kawauchi, S., Calof, A. L., Santos, R., Lopez‐Burks, M. E., Young, C. M., Hoang, M. P., Chua, A., Lao, T., Lechner, M. S., Daniel, J. A., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000650 · Cited by 239 · see citing works
Self-citationBoyle, M. I., Jespersgaard, C., Brøndum‐Nielsen, K., Bisgaard, A., & Tümer, Z. (2014) · Clinical Genetics · doi:10.1111/cge.12499 · Cited by 230 · see citing works
Single-molecule imaging reveals a collapsed conformational state for DNA-bound cohesin
Stigler, J., Çamdere, G. Ö., Koshland, D. E., & Greene, E. C. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.04.003 · Cited by 229 · see citing works
Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
Liu, J., Zhang, Z., Bando, M., Itoh, T., Deardorff, M. A., Clark, D. M., Kaur, M., Tandy, S., Kondoh, T., Rappaport, E. F., et al. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000119 · Cited by 226 · see citing works
Self-citationAn Overview of Genome Organization and How We Got There: from FISH to Hi-C
Fraser, J., Williamson, I., Bickmore, W. A., & Dostie, J. (2015) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00006-15 · Cited by 218 · see citing works
Higher-order Genome Organization in Human DiseasePreprint
Misteli, T. (2010) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a000794 · Cited by 217 · see citing works
Lechner, M. S., Schultz, D., Negorev, D. G., Maul, G. G., & Rauscher, F. J. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.04.016 · Cited by 211 · see citing works
Misulovin, Z., Schwartz, Y. B., Li, X., Kahn, T. G., Gause, M., MacArthur, S., Fay, J. C., Eisen, M. B., Pirrotta, V., Biggin, M. D., et al. (2007) · Chromosoma · doi:10.1007/s00412-007-0129-1 · Cited by 208 · see citing works
The maintenance of chromosome structure: positioning and functioning of SMC complexes
Jeppsson, K. E., Kanno, T., Shirahige, K., & Sjögren, C. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3857 · Cited by 206 · see citing works
Cornelia de Lange syndrome, cohesin, and beyond
Liu, J., & Krantz, I. D. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01271.x · Cited by 205 · see citing works
Self-citationRecruitment of Xenopus Scc2 and cohesin to chromatin requires the pre-replication complex
Takahashi, T. S., Yiu, P., Chou, M. F., Gygi, S. P., & Walter, J. C. (2004) · Nature Cell Biology · doi:10.1038/ncb1177 · Cited by 201 · see citing works
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
Mannini, L., Cucco, F., Quarantotti, V., Krantz, I. D., & Musio, A. (2013) · Human Mutation · doi:10.1002/humu.22430 · Cited by 188 · see citing works
Self-citationScc2 Is a Potent Activator of Cohesin’s ATPase that Promotes Loading by Binding Scc1 without Pds5
Petela, N. J., Gligoris, T. G., Metson, J., Lee, B., Voulgaris, M., Hu, B., Kikuchi, S., Chapard, C., Chen, W., Rajendra, E., et al. (2018) · Molecular Cell · doi:10.1016/j.molcel.2018.05.022 · Cited by 187 · see citing works
Scc2 Couples Replication Licensing to Sister Chromatid Cohesion in Xenopus Egg Extracts
Gillespie, P. J., & Hirano, T. (2004) · Current Biology · doi:10.1016/j.cub.2004.07.053 · Cited by 186 · see citing works
Cohesin-dependent regulation of Runx genes
Horsfield, J. A., Anagnostou, S. H., Hu, J. K., Cho, K. H. Y., Geisler, R., Lieschke, G. J., Crosier, K. E., & Crosier, P. S. (2007) · Development · doi:10.1242/dev.002485 · Cited by 184 · see citing works
CTCF Is Required for Neural Development and Stochastic Expression of Clustered Pcdh Genes in Neurons
Hirayama, T., Tarusawa, E., Yoshimura, Y., Galjart, N., & Yagi, T. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.06.014 · Cited by 180 · see citing works
Natural history of aging in Cornelia de Lange syndrome
Kline, A. D., Grados, M. A., Sponseller, P. D., Levy, H. P., Blagowidow, N., Schoedel, C., Rampolla, J., Clemens, D. K., Krantz, I. D., Kimball, A. S., et al. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30137 · Cited by 176 · see citing works
Self-citationCohesin: genomic insights into controlling gene transcription and development
Dorsett, D. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.018 · Cited by 175 · see citing works
Kernohan, K. D., Jiang, Y. Y., Tremblay, D. C., Bonvissuto, A. C., Eubanks, J. H., Mann, M. R. W., & Bérubé, N. G. (2010) · Developmental Cell · doi:10.1016/j.devcel.2009.12.017 · Cited by 175 · see citing works
WAPL maintains a cohesin loading cycle to preserve cell-type-specific distal gene regulation
Liu, N. Q., Maresca, M., van den Brand, T., Braccioli, L., Schijns, M. M. G. A., Teunissen, H., Bruneau, B. G., Nora, E. P., & de Wit, E. (2021) · Nature Genetics · doi:10.1038/s41588-020-00744-4 · Cited by 162 · see citing works
Ansari, M., Poke, G., Ferry, Q. R. V., Williamson, K. A., Aldridge, R. C. L., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avcı, Ş., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102573 · Cited by 164 · see citing works
Loss of ATRX leads to chromosome cohesion and congression defects
Ritchie, K., Seah, C., Moulin, J. M., Isaac, C. E., Dick, F. A., & Bérubé, N. G. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200706083 · Cited by 163 · see citing works
Kaiser, F. J., Ansari, M., Braunholz, D., Gil‐Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu002 · Cited by 158 · see citing works
Self-citationGlobal transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
Yuan, B., Pehli̇van, D., Karaca, E., Patel, N., Charng, W., Gambin, T., Gonzaga-Jauregui, C. G., Sutton, V. R., Yeşil, G., Bozdoğan, S. T., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci77435 · Cited by 157 · see citing works
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
Bhuiyan, Z. A., Klein, M., Hammond, P., van Haeringen, A., Mannens, M. M. A. M., Berckelaer-Onnes, I. V., & Hennekam, R. C. M. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.038240 · Cited by 154 · see citing works
Cohesin regulates tissue-specific expression by stabilizing highly occupied cis -regulatory modulesPreprint
Faure, A. J., Schmidt, D., Watt, S., Schwalie, P. C., Wilson, M. D., Xu, H., Ramsay, R. G., Odom, D. T., & Flicek, P. (2012) · Genome Research · doi:10.1101/gr.136507.111 · Cited by 149 · see citing works
Perspectives onRUNXgenes: An update
Cohen, M. M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33021 · Cited by 147 · see citing works
The cohesin complex is required for the DNA damage‐induced G2/M checkpoint in mammalian cells
Watrin, E., & Peters, J. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.202 · Cited by 147 · see citing works
Shox2-deficient mice exhibit a rare type of incomplete clefting of the secondary palate
Yu, L., Gu, S., Alappat, S. R., Song, Y., Yan, M., Zhang, X., Zhang, G., Jiang, Y., Zhang, Z., Zhang, Y., et al. (2005) · Development · doi:10.1242/dev.02013 · Cited by 147 · see citing works
Dorsett, D. (2006) · Chromosoma · doi:10.1007/s00412-006-0072-6 · Cited by 145 · see citing works
The missing link between genetic association and regulatory function
Connally, N. J., Nazeen, S., Lee, D., Shi, H., Stamatoyannopoulos, J. A., Chun, S., Cotsapas, C. J., Cassa, C. A., & Sunyaev, S. R. (2022) · eLife · doi:10.7554/elife.74970 · Cited by 144 · see citing works
Selicorni, A., Russo, S., Gervasini, C., Castronovo, P., Milani, D., Cavalleri, F., Bentivegna, A., Masciadri, M., Domi, A., Divizia, M. T., et al. (2007) · Clinical Genetics · doi:10.1111/j.1399-0004.2007.00832.x · Cited by 142 · see citing works
Klaassens, M., van Dooren, M., Eussen, H. J., Douben, H., den Dekker, A. T., Lee, C., Donahoe, P. K., Galjaard, R. J. H., Goemaere, N. N. T., de Krijger, R. R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429842 · Cited by 142 · see citing works
The Ancient and Evolving Roles of Cohesin in Gene Expression and DNA Repair
Dorsett, D., & Ström, L. (2012) · Current Biology · doi:10.1016/j.cub.2012.02.046 · Cited by 141 · see citing works
Schüle, B., Oviedo, A., Johnston, K. M., Pai, S., & Francke, U. (2005) · The American Journal of Human Genetics · doi:10.1086/498695 · Cited by 140 · see citing works
A unique role of cohesin‐SA1 in gene regulation and development
Remeseiro, S., Cuadrado, A., Goméz-López, G., Pisano, D. G., & Losada, A. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.60 · Cited by 138 · see citing works
High rate of mosaicism in individuals with Cornelia de Lange syndrome
Huisman, S. A., Redeker, E. J. W., Maas, S. M., Mannens, M. M. A. M., & Hennekam, R. C. M. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101477 · Cited by 137 · see citing works
On the Molecular Etiology of Cornelia de Lange Syndrome
Dorsett, D., & Krantz, I. D. (2008) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2008.03450.x · Cited by 132 · see citing works
Self-citationDorsett, D., Eissenberg, J. C., Misulovin, Z., Martens, A., Redding, B., & McKim, K. S. (2005) · Development · doi:10.1242/dev.02064 · Cited by 130 · see citing works
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome
Kaur, M., DeScipio, C., McCallum, J., Yaeger, D., Devoto, M., Jackson, L. G., Spinner, N. B., & Krantz, I. D. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30919 · Cited by 128 · see citing works
Self-citationLiu, J., & Krantz, I. D. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164211 · Cited by 126 · see citing works
Self-citationLopez‐Serra, L., Kelly, G. P., Patel, H., Stewart, A., & Uhlmann, F. (2014) · Nature Genetics · doi:10.1038/ng.3080 · Cited by 123 · see citing works
Cohesin: Functions beyond sister chromatid cohesion
Mehta, G., Kumar, R., Srivastava, S., & Ghosh, S. (2013) · FEBS Letters · doi:10.1016/j.febslet.2013.06.035 · Cited by 123 · see citing works
Crystal structure of the cohesin loader Scc2 and insight into cohesinopathy
Kikuchi, S., Borek, D., Otwinowski, Z., Tomchick, D. R., & Yu, H. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1611333113 · Cited by 122 · see citing works
Nitzsche, A., Paszkowski‐Rogacz, M., Matarese, F., Janssen‐Megens, E. M., Hubner, N. C., Schulz, H., de Vries, I., Ding, L., Huebner, N., Mann, M., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019470 · Cited by 120 · see citing works
Dorsett, D., & Merkenschlager, M. (2013) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2013.02.003 · Cited by 118 · see citing works
Emerging themes in cohesin cancer biology
Waldman, T. A. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-0270-1 · Cited by 117 · see citing works
Takahashi, T. S., Basu, A., Bermudez, V. P., Hurwitz, J., & Walter, J. C. (2008) · Genes & Development · doi:10.1101/gad.1683308 · Cited by 114 · see citing works
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works
Coordination of KSHV Latent and Lytic Gene Control by CTCF-Cohesin Mediated Chromosome Conformation
Kang, H., Wiedmer, A., Yuan, Y., Robertson, E. S., & Lieberman, P. M. (2011) · PLoS Pathogens · doi:10.1371/journal.ppat.1002140 · Cited by 112 · see citing works
How cohesin and CTCF cooperate in regulating gene expression
Wendt, K. S., & Peters, J. (2009) · Chromosome Research · doi:10.1007/s10577-008-9017-7 · Cited by 109 · see citing works
Clinical geneticists' views of VACTERL/VATER association
Solomon, B. D., Bear, K. A., Kimonis, V. E., de Klein, A., Scott, D. A., Shaw-Smith, C. J., Tibboel, D., Reutter, H. M., & Giampietro, P. F. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35638 · Cited by 107 · see citing works
Schaaf, C. A., Misulovin, Z., Sahota, G., Siddiqui, A. M., Schwartz, Y. B., Kahn, T. G., Pirrotta, V., Gause, M., & Dorsett, D. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006202 · Cited by 106 · see citing works
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
Revenkova, E., Focarelli, M. L., Susani, L., Paulis, M., Bassi, M. T., Mannini, L., Frattini, A., Delia, D., Krantz, I. D., Vezzoni, P., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn369 · Cited by 106 · see citing works
Self-citationMetazoan Scc4 Homologs Link Sister Chromatid Cohesion to Cell and Axon Migration Guidance
Seitan, V. C., Banks, P., Laval, S., Majid, N. B. A., Dorsett, D., Rana, A. A., Smith, J., Bateman, A. G., Krpic, S., Hostert, A., et al. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040242 · Cited by 105 · see citing works
Genetic architecture of body size in mammals
Kemper, K. E., Visscher, P. M., & Goddard, M. E. (2012) · Genome biology · doi:10.1186/gb4016 · Cited by 105 · see citing works
Zhang, B., Jain, S. R., Song, H., Fu, M., Heuckeroth, R. O., Erlich, J. M., Jay, P. Y., & Milbrandt, J. (2007) · Development · doi:10.1242/dev.005884 · Cited by 104 · see citing works
Vrouwe, M. G., Elghalbzouri-Maghrani, E., Meijers, M., Schouten, P., Godthelp, B. C., Bhuiyan, Z. A., Redeker, E. J. W., Mannens, M. M. A. M., Mullenders, L. H. F., Pastink, A., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm098 · Cited by 104 · see citing works
Functional modules, mutational load and human genetic disease
Zaghloul, N. A., & Katsanis, N. (2010) · Trends in Genetics · doi:10.1016/j.tig.2010.01.006 · Cited by 103 · see citing works
Cohesin subunit RAD21: From biology to disease
Cheng, H., Zhang, N., & Pati, D. (2020) · Gene · doi:10.1016/j.gene.2020.144966 · Cited by 103 · see citing works
Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved
Rhodes, J. M., Bentley, F. K., Print, C. G., Dorsett, D., Misulovin, Z., Dickinson, E., Crosier, K. E., Crosier, P. S., & Horsfield, J. A. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.05.493 · Cited by 98 · see citing works
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
Basile, E., Villa, L. M., Selicorni, A., & Molteni, M. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2007.00977.x · Cited by 97 · see citing works
Muto, A., Calof, A. L., Lander, A. D., & Schilling, T. F. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001181 · Cited by 97 · see citing works
Self-citationCohesin Proteins Promote Ribosomal RNA Production and Protein Translation in Yeast and Human Cells
Bose, T., Lee, K. K., Lu, S., Xu, B., Harris, B. D., Slaughter, B. D., Unruh, J. R., Garrett, A. S., McDowell, W., Box, A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002749 · Cited by 97 · see citing works
Self-citationLee, B., & Iyer, V. R. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.r111.324962 · Cited by 95 · see citing works
- Authors
- Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., Nowaczyk, M. J. M., Toriello, H., Bamshad, M. J., Carey, J. C., Rappaport, E., Kawauchi, S., Lander, A. D., Calof, A. L., Li, H.-H., Devoto, M., & Jackson, L. G.
- Affiliations
- Children's Hospital of Philadelphia (US)
- University Hospital of Geneva (CH)
- University of Nevada, Las Vegas (US)
- Michigan State University (US)
- University of Utah (US)
- University of California, Irvine (US)
- University of Genoa (IT)
- Corresponding author
- Krantz, Ian D
- ORCID
- Venue
- Nature Genetics
- Published
- 2004-05-16
- Volume
- 36
- Issue
- 6
- Pages
- 631-635
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4902017
- OpenAlex
- W2059171091
- Cited by
- 713
- References
- 14
- Citations by year
- 2026: 11 · 2025: 22 · 2024: 17 · 2023: 14 · 2022: 29 · 2021: 21 · 2020: 26 · 2019: 31 · 2018: 22 · 2017: 35 · 2016: 33 · 2015: 39 · 2014: 33 · 2013: 52 · 2012: 47
- FWCI
- 16.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Funders
- Cornelia de Lange Syndrome Foundation
- Children's Hospital of Philadelphia
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039323)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Cornelia de Lange syndrome, NIPBL, candidate gene mapping, de novo translocation, critical region, genetic mutations, enhancer-promoter interactions, Notch signaling, developmental disorders, growth retardation, limb malformations
- MeSH terms
- Animals, Chromosomes, Human, Pair 5, De Lange Syndrome, DNA-Binding Proteins, Drosophila melanogaster, Female, Humans, Genetic Linkage, Male, Molecular Sequence Data, Mutation, Species Specificity, Genes, Insect, In Situ Hybridization, Fluorescence, Drosophila Proteins, Mice
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
