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The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohesinopathy context, especially in comparison to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, a very distinct cohesinopat …
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohe …
Chromosome instability syndromes.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. Taylor AMR, et al. Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Nat Rev Dis Primers. 2019. PMID: 31537806 Free PMC article. Review.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders. Each disorder has its own pattern of chromosomal damage, with cells fro …
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinica …
How many roads lead to cohesinopathies?
Banerji R, Skibbens RV, Iovine MK. Banerji R, et al. Dev Dyn. 2017 Nov;246(11):881-888. doi: 10.1002/dvdy.24510. Epub 2017 May 22. Dev Dyn. 2017. PMID: 28422453 Free article. Review.
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohesinopathies. These include Roberts syndrome (RBS), Cornelia de Lange Syndrome (CdLS), and Warsaw Breakage Syn
Genetic mapping studies reveal that mutations in cohesion pathways are responsible for multispectrum developmental abnormalities termed cohe …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...Microcephaly and immunodeficiency are common to …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized …
Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.
Santos D, Mahtab M, Boavida A, Pisani FM. Santos D, et al. Int J Mol Sci. 2021 Feb 25;22(5):2308. doi: 10.3390/ijms22052308. Int J Mol Sci. 2021. PMID: 33669056 Free PMC article. Review.
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retardation, microcephaly, hearing loss and other variable clinical manifestations. ...
Warsaw breakage syndrome (WABS) is a genetic disorder characterized by sister chromatid cohesion defects, growth retard
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
Maciejczyk M, Mikoluc B, Pietrucha B, Heropolitanska-Pliszka E, Pac M, Motkowski R, Car H. Maciejczyk M, et al. Redox Biol. 2017 Apr;11:375-383. doi: 10.1016/j.redox.2016.12.030. Epub 2016 Dec 28. Redox Biol. 2017. PMID: 28063379 Free PMC article. Review.
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and ins …
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NB …
Exploring and exploiting the systemic effects of deregulated replication licensing.
Petrakis TG, Komseli ES, Papaioannou M, Vougas K, Polyzos A, Myrianthopoulos V, Mikros E, Trougakos IP, Thanos D, Branzei D, Townsend P, Gorgoulis VG. Petrakis TG, et al. Semin Cancer Biol. 2016 Jun;37-38:3-15. doi: 10.1016/j.semcancer.2015.12.002. Epub 2015 Dec 17. Semin Cancer Biol. 2016. PMID: 26707000 Review.
In the present review we discuss the mechanistic basis of replication licensing deregulation, which leads to systemic effects, exemplified by its role in carcinogenesis and a variety of genetic syndromes. In addition, new insights demonstrate that above a particular thresh …
In the present review we discuss the mechanistic basis of replication licensing deregulation, which leads to systemic effects, exemplified b …
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN, Brosh RM Jr. Suhasini AN, et al. Mutat Res. 2013 Apr-Jun;752(2):138-152. doi: 10.1016/j.mrrev.2012.12.004. Epub 2012 Dec 28. Mutat Res. 2013. PMID: 23276657 Free PMC article. Review.
Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndrome, or RAPADILINO. Bloom's syndrome causing missense mutations are found in the conserved helicase and RecQ C-terminal domain of …
Complex phenotypes are also observed for RECQL4 helicase mutations responsible for Rothmund-Thomson syndrome, Baller-Gerold syndro
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.
Bharti SK, Khan I, Banerjee T, Sommers JA, Wu Y, Brosh RM Jr. Bharti SK, et al. Cell Mol Life Sci. 2014 Jul;71(14):2625-39. doi: 10.1007/s00018-014-1569-4. Epub 2014 Feb 1. Cell Mol Life Sci. 2014. PMID: 24487782 Free PMC article. Review.
In 2010, a new recessive cohesinopathy disorder, designated Warsaw breakage syndrome (WABS), was described. The individual with WABS displayed microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentation. Cytogenetic analysis revealed m …
In 2010, a new recessive cohesinopathy disorder, designated Warsaw breakage syndrome (WABS), was described. The individ …
14 results