| Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. | Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM., Free PMC Article | 04/18/2024 |
| RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma. | RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.
Su Y, Lin H, Yu J, Mao L, Jin W, Liu T, Jiang S, Wu Y, Zhang S, Geng Q, Ge C, Zhao F, Chen T, Cui Y, Li J, Hou H, Zhou X, Li H., Free PMC Article | 12/1/2023 |
| SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression. | SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Bastos N, Castaldo SA, Adem B, Machado JC, Melo CA, Melo SA., Free PMC Article | 08/31/2023 |
| Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model. | Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.
Arkoun B, Robert E, Boudia F, Mazzi S, Dufour V, Siret A, Mammasse Y, Aid Z, Vieira M, Imanci A, Aglave M, Cambot M, Petermann R, Souquere S, Rameau P, Catelain C, Diot R, Tachdjian G, Hermine O, Droin N, Debili N, Plo I, Malinge S, Soler E, Raslova H, Mercher T, Vainchenker W., Free PMC Article | 07/23/2022 |
| Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes. | Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.
Rivas MA, Durmaz C, Kloetgen A, Chin CR, Chen Z, Bhinder B, Koren A, Viny AD, Scharer CD, Boss JM, Elemento O, Mason CE, Melnick AM., Free PMC Article | 10/30/2021 |
| SMC3 protein levels impact on karyotype. | SMC3 protein levels impact on karyotype and outcome in acute myeloid leukemia.
Kraft B, Lombard J, Kirsch M, Wuchter P, Bugert P, Hielscher T, Blank N, Krämer A. | 07/20/2019 |
| H2 inhibited lung cancer progression through down-regulating SMC3. | Hydrogen gas inhibits lung cancer progression through targeting SMC3.
Wang D, Wang L, Zhang Y, Zhao Y, Chen G. | 10/6/2018 |
| Both the SMC1A and SMC3 gene mutation tests were negative in all Chinese patients with Cornelia de Lange syndrome. | Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
Hei M, Gao X, Wu L., Free PMC Article | 08/11/2018 |
| We identified a large number of mutations in the CC region of both Smc1 and Smc3... we introduced them to the yeast Smc1 and Smc3 CC domains and characterized the effect of these mutant alleles on cohesin's function. We identified a missense mutation in the region of the kink domain of Smc3, which was previously identified in kidney carcinoma | Identification of a region in the coiled-coil domain of Smc3 that is essential for cohesin activity.
Orgil O, Mor H, Matityahu A, Onn I., Free PMC Article | 06/24/2017 |
| Results show that SMC3 is upregulated in asthma patients and suggest that it may play an important role in atopic asthma development, especially in asthma epithelial-mesenchymal transition. | SMC3 may play an important role in atopic asthma development.
Cheng Q, Huang W, Chen N, Shang Y, Zhang H. | 04/15/2017 |
| Data show that histone deacetylase 8 (HDAC8) inhibition led to accumulation of acetylated-SMC3 protein but had no influence on the transcription of estrogen-responsive genes. | HDAC8 Inhibition Blocks SMC3 Deacetylation and Delays Cell Cycle Progression without Affecting Cohesin-dependent Transcription in MCF7 Cancer Cells.
Dasgupta T, Antony J, Braithwaite AW, Horsfield JA., Free PMC Article | 12/17/2016 |
| De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes | De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. | 12/19/2015 |
| cohesin's proposed DNA exit gate is formed by interactions between Scc1 and the coiled-coil region of Smc3. | Characterization of a DNA exit gate in the human cohesin ring.
Huis in 't Veld PJ, Herzog F, Ladurner R, Davidson IF, Piric S, Kreidl E, Bhaskara V, Aebersold R, Peters JM. | 12/20/2014 |
| Cross-sectional deep-sequencing analysis for clonal hierarchy demonstrated STAG2, SMC3, and RAD21 mutations to be ancestral in 18%, 18%, and 47% of cases, respectively, and each expanded to clonal dominance concordant with disease transformation | Genetic alterations of the cohesin complex genes in myeloid malignancies.
Thota S, Viny AD, Makishima H, Spitzer B, Radivoyevitch T, Przychodzen B, Sekeres MA, Levine RL, Maciejewski JP., Free PMC Article | 11/22/2014 |
| Mutations in SMC3 is associated with acute myeloid leukemia. | Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications.
Thol F, Bollin R, Gehlhaar M, Walter C, Dugas M, Suchanek KJ, Kirchner A, Huang L, Chaturvedi A, Wichmann M, Wiehlmann L, Shahswar R, Damm F, Göhring G, Schlegelberger B, Schlenk R, Döhner K, Döhner H, Krauter J, Ganser A, Heuser M. | 04/5/2014 |
| Upon knock-down of human SMC1, much of SMC3 remains stable, accumulates in the cytoplasm and does not associate with other cohesin proteins. | Imbalance of SMC1 and SMC3 cohesins causes specific and distinct effects.
Laugsch M, Seebach J, Schnittler H, Jessberger R., Free PMC Article | 01/25/2014 |
| c-MYC down-regulation caused by cohesin mutations in SMC1A and SMC3 genes may be an early/primary event in the pathogenesis of Cornelia de Lange syndrome. | Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff MA, Menga S, Krantz ID, Musio A, Bini L., Free PMC Article | 05/25/2013 |
| NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have congenital heart diseases in Cornelia de lange syndrome. | Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID., Free PMC Article | 02/23/2013 |
| SMC3 and separase are upregulated and securin is downregulated in malignant transformation of BEAS-2B cells induced by coal tar pitch smoke extracts. | [Change of structural maintenance of chromosome (SMC)1, SMC3, Separase and Securin expression in BEAS-2B malignant transformation cell induced by coal tar pitch smoke extracts].
Li ZT, Wang W, Zhao Y, Wang LX, Zhu HS, Wu WD, Wu YM. | 08/25/2012 |
| these studies clearly suggest that bamacan interacts with the vaccinia virus-N1L and such interactions seem to play a positive role in promoting the viral growth and perhaps contribute to the virulence of VV in neural cells. | The proteoglycan bamacan is a host cellular ligand of vaccinia virus neurovirulence factor N1L.
Mohan KV, Zhang CX, Atreya CD., Free PMC Article | 10/23/2010 |
| The identification of 14 additional mutations of the cohesin complex genes NIPBL and SMC1A in a cohort of 30 unrelated patients with Cornelia de Lange syndrome, is reported. | Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ, Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ., Free PMC Articles: PMC2923429, PMC2923429 | 07/12/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ, Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 12/2/2009 |
| Cornelia de Lange syndrome mutations in SMC1A or SMC3 bind to DNA with higher affinity and display genomic instability. | Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A., Free PMC Article | 01/21/2010 |
| Data describe alterations of myocardial intercellular and cell-matrix contacts in hypertrophic tissue, and show intracellular translocation of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 in both an animal model and in LVH patients. | Expression and tissue localization of beta-catenin, alpha-actinin and chondroitin sulfate proteoglycan 6 is modulated during rat and human left ventricular hypertrophy.
Ridinger H, Rutenberg C, Lutz D, Buness A, Petersen I, Amann K, Maercker C. | 01/21/2010 |
| There were greater levels of chondroitin sulphate WF6 epitope in gingival crevicular fluid from destructive sites of patients with chronic periodontitis compared with non-destructive sites of patients with gingivitis or chronic periodontitis. | Raised chondroitin sulphate WF6 epitope levels in gingival crevicular fluid in chronic periodontitis.
Khongkhunthian S, Srimueang N, Krisanaprakornkit S, Pattanaporn K, Ong-Chai S, Kongtawelert P. | 01/21/2010 |