The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
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WASHC4 is a causative gene for autosomal recessive intellectual disability (MIM615817).
“WASHC4 has been reported as a causative gene for autosomal recessive intellectual disability (MIM615817)”
From Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome (2023) · cites this paper as [11]
The Discussion says a variant in the WASH-complex component SWIP was shown to cause non-syndromic intellectual disability, and reference 21 describes SWIP as a candidate gene for autosomal recessive intellectual disability. Our copy does not identify SWIP as WASHC4 or give MIM615817, so it does not verify the claim’s specific gene name and identifier. (LLM, conf=0.78)
Experimental — accuracy not yet measuredRSS (3C syndrome) has a triad of clinical features including craniofacial features, cerebellar anomalies and cardiac defects.
“also known as 3C syndrome due to its triad of clinical features including craniofacial features, cerebellar anomalies and cardiac defects.”
From Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome (2023) · cites this paper as [11]
CCDC22 and WASHC5 are responsible genes for Ritscher-Schinzel syndrome (RSS).
“CCDC22 and WASHC5 are known as responsible genes for Ritscher-Schinzel syndrome (RSS, MIM220210 and MIM300963)”
From Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome (2023) · cites this paper as [11]
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Citations
Cites
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, I., Huang, L., Winden, K., Lazaro, M., Haan, E., Nelson, J., McGaughran, J., Nguyen, L. S., Friend, K., Hackett, A., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.95 · Cited by 61
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Research works printed but not linked: 21
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Cited by
Sorted by citations
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
Bartuzi, P., Billadeau, D. D., Favier, R., Rong, S., Dekker, D., Fedoseienko, A., Fieten, H., Wijers, M., Levels, J. H., Huijkman, N., et al. (2016) · Nature Communications · doi:10.1038/ncomms10961 · Cited by 205
Self-citationEndosomal retrieval of cargo: Retromer is not alone
McNally, K. E., & Cullen, P. J. (2018) · Trends in Cell Biology · doi:10.1016/j.tcb.2018.06.005 · Cited by 169
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome
Healy, M. D., McNally, K. E., Butkovič, R., Chilton, M., Kato, K., Sacharz, J., McConville, C., Moody, E. R. R., Shaw, S., Planelles-Herrero, V. J., et al. (2023) · Cell · doi:10.1016/j.cell.2023.04.003 · Cited by 91
Structural organization of the retriever–CCC endosomal recycling complex
Boesch, D. J., Singla, A., Han, Y., Kramer, D. A., Liu, Q., Suzuki, K., Juneja, P., Zhao, X., Long, X., Medlyn, M. J., et al. (2024) · Nature Structural & Molecular Biology · doi:10.1038/s41594-023-01184-4 · Cited by 52
The hepatic WASH complex is required for efficient plasma LDL and HDL cholesterol clearance
Wijers, M., Zanoni, P., Liv, N., Vos, D. Y., Jäckstein, M. Y., Smit, M., Wilbrink, S., Wolters, J. C., van der Veen, Y. T., Huijkman, N., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.126462 · Cited by 44
Mechanism and regulation of cargo entry into the Commander endosomal recycling pathway
Butkovič, R., Walker, A. P., Healy, M. D., McNally, K. E., Liu, M., Veenendaal, T., Kato, K., Liv, N., Klumperman, J., Collins, B. M., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-50971-0 · Cited by 26
Rimbert, A., Dalila, N., Wolters, J. C., Huijkman, N., Smit, M., Kloosterhuis, N., Riemsma, M., van der Veen, Y., Singla, A., van Dijk, F., et al. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehz727 · Cited by 24
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Antón-Plágaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., et al. (2023) · Journal of Medical Genetics · doi:10.1136/jmg-2022-108602 · Cited by 19
Recruitment of the SNX17-Retriever recycling pathway regulates synaptic function and plasticity
Rivero-Ríos, P., Tsukahara, T., Uygun, T., Chen, A., Chavis, G. D., Giridharan, S. S. P., Iwase, S., Sutton, M. A., & Weisman, L. S. (2023) · Journal of Cell Biology · doi:10.1083/jcb.202207025 · Cited by 17
Vos, D. Y., Wijers, M., Smit, M., Huijkman, N., Kloosterhuis, N. J., Wolters, J. C., Tissink, J. J., Pronk, A. C. M., Kooijman, S., Rensen, P. C. N., et al. (2023) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.122.318169 · Cited by 16
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
Kato, K., Nishio, Y., McMillan, K. J., Al-Maraghi, A., Kroes, H. Y., Abdel-Hamid, M. S., Jones, E., Shaw, S., Yoshida, A., Otsuji, S., et al. (2025) · Science Translational Medicine · doi:10.1126/scitranslmed.adt2426 · Cited by 7
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome
Singla, A., Rogers, C., Touma, M.-J., El-Najjar, Y., Colley, A., Boesch, D. J., Billadeau, D. D., Gecz, J., Chen, B., & Burstein, E. (2025) · BMC Medical Genomics · doi:10.1186/s12920-025-02168-7 · Cited by 1
Phosphorylation of SNX17 impedes activation of Retriever-mediated sorting
Speidel, J. D., Yu, K., & Böttcher, R. T. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.110222
Endosomal protein DENND10 promotes developmental competence of neurite extension
Li, A., Zhang, J., Ma, C., Qi, L., Hu, Q., Li, Q., Fang, Y., Song, J., Liu, Y., & Zhang, Y. (2025) · iScience · doi:10.1016/j.isci.2025.112385
Metadata
- Authors
- Kolanczyk, M., Krawitz, P., Hecht, J., Hupalowska, A., Miaczynska, M., Marschner, K., Schlack, C., Emmerich, D., Kobus, K., Kornak, U., Robinson, P. N., Plecko, B., Grangl, G., Uhrig, S., Mundlos, S., & Horn, D.
- Venue
- European Journal of Human Genetics
- Published
- 2014-06-11
- Volume
- 23
- Issue
- 5
- Pages
- 633-638
- ISSN
- 1018-4813
- 1476-5438
- Cited by
- 54
- References
- 1
- Language
- en
- Update notices
- erratum (2015-04-16)
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