144 related articles for article (PubMed ID: 24344301)
1. TALEN-mediated single-base-pair editing identification of an intergenic mutation upstream of BUB1B as causative of PCS (MVA) syndrome.
Ochiai H; Miyamoto T; Kanai A; Hosoba K; Sakuma T; Kudo Y; Asami K; Ogawa A; Watanabe A; Kajii T; Yamamoto T; Matsuura S
Proc Natl Acad Sci U S A; 2014 Jan; 111(4):1461-6. PubMed ID: 24344301
[TBL] [Abstract][Full Text] [Related]
2. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.
Matsuura S; Matsumoto Y; Morishima K; Izumi H; Matsumoto H; Ito E; Tsutsui K; Kobayashi J; Tauchi H; Kajiwara Y; Hama S; Kurisu K; Tahara H; Oshimura M; Komatsu K; Ikeuchi T; Kajii T
Am J Med Genet A; 2006 Feb; 140(4):358-67. PubMed ID: 16411201
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H; Vásquez-Velásquez AI; Rivera H; Barros-Núñez P
Am J Med Genet A; 2008 Jul; 146A(13):1687-95. PubMed ID: 18548531
[TBL] [Abstract][Full Text] [Related]
4. Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.
Bohers E; Sarafan-Vasseur N; Drouet A; Paresy M; Latouche JB; Flaman JM; Sesboüé R; Frebourg T
Hum Genet; 2008 Dec; 124(5):473-8. PubMed ID: 18932004
[TBL] [Abstract][Full Text] [Related]
5. Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Hahn MM; Vreede L; Bemelmans SA; van der Looij E; van Kessel AG; Schackert HK; Ligtenberg MJ; Hoogerbrugge N; Kuiper RP; de Voer RM
Genes Chromosomes Cancer; 2016 Nov; 55(11):855-63. PubMed ID: 27239782
[TBL] [Abstract][Full Text] [Related]
6. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
Pavone P; Pappalardo XG; Mustafa N; Falsaperla R; Marino SD; Corsello G; Bianca S; Parano E; Ruggieri M
Neurol Sci; 2022 Nov; 43(11):6529-6538. PubMed ID: 35804254
[TBL] [Abstract][Full Text] [Related]
7. Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome.
Hanks S; Coleman K; Summersgill B; Messahel B; Williamson D; Pritchard-Jones K; Strefford J; Swansbury J; Plaja A; Shipley J; Rahman N
Cancer Lett; 2006 Aug; 239(2):234-8. PubMed ID: 16182441
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.
Yamaguchi T; Yamaguchi M; Akeno K; Fujisaki M; Sumiyoshi K; Ohashi M; Sameshima H; Ozaki M; Kato M; Kato T; Hosoba E; Kurahashi H
J Obstet Gynaecol Res; 2018 Jul; 44(7):1313-1317. PubMed ID: 29673003
[TBL] [Abstract][Full Text] [Related]
9. PCS/MVA syndrome caused by an
Kato M; Kato T; Hosoba E; Ohashi M; Fujisaki M; Ozaki M; Yamaguchi M; Sameshima H; Kurahashi H
Hum Genome Var; 2017; 4():17021. PubMed ID: 28611924
[TBL] [Abstract][Full Text] [Related]
10. Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.
Wijshake T; Malureanu LA; Baker DJ; Jeganathan KB; van de Sluis B; van Deursen JM
PLoS Genet; 2012; 8(12):e1003138. PubMed ID: 23300461
[TBL] [Abstract][Full Text] [Related]
11. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S; Coleman K; Reid S; Plaja A; Firth H; Fitzpatrick D; Kidd A; Méhes K; Nash R; Robin N; Shannon N; Tolmie J; Swansbury J; Irrthum A; Douglas J; Rahman N
Nat Genet; 2004 Nov; 36(11):1159-61. PubMed ID: 15475955
[TBL] [Abstract][Full Text] [Related]
12. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Rio Frio T; Lavoie J; Hamel N; Geyer FC; Kushner YB; Novak DJ; Wark L; Capelli C; Reis-Filho JS; Mai S; Pastinen T; Tischkowitz MD; Marcus VA; Foulkes WD
N Engl J Med; 2010 Dec; 363(27):2628-37. PubMed ID: 21190457
[TBL] [Abstract][Full Text] [Related]
13. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Pinson L; Mannini L; Willems M; Cucco F; Sirvent N; Frebourg T; Quarantotti V; Collet C; Schneider A; Sarda P; Geneviève D; Puechberty J; Lefort G; Musio A
Am J Med Genet A; 2014 Jan; 164A(1):177-81. PubMed ID: 24259107
[TBL] [Abstract][Full Text] [Related]
14. BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.
Sieben CJ; Jeganathan KB; Nelson GG; Sturmlechner I; Zhang C; van Deursen WH; Bakker B; Foijer F; Li H; Baker DJ; van Deursen JM
J Clin Invest; 2020 Jan; 130(1):171-188. PubMed ID: 31738183
[TBL] [Abstract][Full Text] [Related]
15. Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.
Simmons AJ; Park R; Sterling NA; Jang MH; van Deursen JMA; Yen TJ; Cho SH; Kim S
Hum Mol Genet; 2019 Jun; 28(11):1822-1836. PubMed ID: 30668728
[TBL] [Abstract][Full Text] [Related]
16. Transcription of the human cell cycle regulated BUB1B gene requires hStaf/ZNF143.
Myslinski E; Gérard MA; Krol A; Carbon P
Nucleic Acids Res; 2007; 35(10):3453-64. PubMed ID: 17478512
[TBL] [Abstract][Full Text] [Related]
17. BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells.
Izumi H; Matsumoto Y; Ikeuchi T; Saya H; Kajii T; Matsuura S
Oncogene; 2009 Aug; 28(31):2806-20. PubMed ID: 19503101
[TBL] [Abstract][Full Text] [Related]
18. A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.
De la Torre-García O; Mar-Aldama R; Salgado-Sangri R; Diaz-Gomez N; Bonilla-Arcaute L; Diaz-Ponce-Medrano J; Guevara-Yañez R; Córdova EJ; Monge-Cazares T; Orozco L; Martínez-Hernández A
Eur J Med Genet; 2019 Mar; 62(3):195-197. PubMed ID: 30010053
[TBL] [Abstract][Full Text] [Related]
19. Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Suijkerbuijk SJ; van Osch MH; Bos FL; Hanks S; Rahman N; Kops GJ
Cancer Res; 2010 Jun; 70(12):4891-900. PubMed ID: 20516114
[TBL] [Abstract][Full Text] [Related]
20. Cancer-Specific requirement for BUB1B/BUBR1 in human brain tumor isolates and genetically transformed cells.
Ding Y; Hubert CG; Herman J; Corrin P; Toledo CM; Skutt-Kakaria K; Vazquez J; Basom R; Zhang B; Risler JK; Pollard SM; Nam DH; Delrow JJ; Zhu J; Lee J; DeLuca J; Olson JM; Paddison PJ
Cancer Discov; 2013 Feb; 3(2):198-211. PubMed ID: 23154965
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
