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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 …
A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.
Szeliga A, Zysnarska A, Szklarska Z, Truszkowska E, Podfigurna A, Czyzyk A, Genazzani AR, Chrzanowska K, Meczekalski B. Szeliga A, et al. Gynecol Endocrinol. 2019 Nov;35(11):999-1002. doi: 10.1080/09513590.2019.1626366. Epub 2019 Jun 12. Gynecol Endocrinol. 2019. PMID: 31187634 Review.
Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, including characteristic facial features (bird-like face), predisposition to malignancies, as well as hypergonadotropic hypog …
Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an arra …
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.
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity. ...For example, a FA patient-derived muta …
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome …
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