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Items: 1 to 20 of 77

1.

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K; UCLA Clinical Genomics Center, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA.

Am J Med Genet A. 2017 May;173(5):1319-1327. doi: 10.1002/ajmg.a.38207. Epub 2017 Mar 11.

PMID:
28296084
2.

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study, Zuberi SM.

Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6.

PMID:
28166369
3.

Coexisting and cooperating mutations in NPM1-mutated acute myeloid leukemia.

Patel JL, Schumacher JA, Frizzell K, Sorrells S, Shen W, Clayton A, Jattani R, Kelley TW.

Leuk Res. 2017 May;56:7-12. doi: 10.1016/j.leukres.2017.01.027. Epub 2017 Jan 23.

PMID:
28152414
4.

SMC1A recruits tumor-associated-fibroblasts (TAFs) and promotes colorectal cancer metastasis.

Zhou P, Xiao N, Wang J, Wang Z, Zheng S, Shan S, Wang J, Du J, Wang J.

Cancer Lett. 2017 Jan 28;385:39-45. doi: 10.1016/j.canlet.2016.10.041. Epub 2016 Nov 4.

PMID:
27826041
5.

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders.

Deardorff MA, Porter NJ, Christianson DW.

Protein Sci. 2016 Nov;25(11):1965-1976. doi: 10.1002/pro.3030. Epub 2016 Sep 16. Review.

PMID:
27576763
6.

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE.

Clin Genet. 2016 Nov;90(5):413-419. doi: 10.1111/cge.12729. Epub 2016 Feb 14.

PMID:
26752331
7.

Mutations of myelodysplastic syndromes (MDS): An update.

Ganguly BB, Kadam NN.

Mutat Res Rev Mutat Res. 2016 Jul-Sep;769:47-62. doi: 10.1016/j.mrrev.2016.04.009. Epub 2016 Jun 23. Review.

PMID:
27543316
8.

Cohesin mutations in human cancer.

Hill VK, Kim JS, Waldman T.

Biochim Biophys Acta. 2016 Aug;1866(1):1-11. doi: 10.1016/j.bbcan.2016.05.002. Epub 2016 May 17. Review.

9.

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.

Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):163-70. doi: 10.1002/ajmg.c.31495. Epub 2016 Apr 29.

PMID:
27125329
10.

Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy.

Gill H, Leung AY, Kwong YL.

Int J Mol Sci. 2016 Mar 24;17(4):440. doi: 10.3390/ijms17040440. Review.

11.

The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.

Ibáñez M, Carbonell-Caballero J, García-Alonso L, Such E, Jiménez-Almazán J, Vidal E, Barragán E, López-Pavía M, LLop M, Martín I, Gómez-Seguí I, Montesinos P, Sanz MA, Dopazo J, Cervera J.

PLoS One. 2016 Feb 17;11(2):e0148346. doi: 10.1371/journal.pone.0148346. eCollection 2016.

12.

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

Yuen KC, Xu B, Krantz ID, Gerton JL.

Cell Rep. 2016 Jan 5;14(1):93-102. doi: 10.1016/j.celrep.2015.12.012. Epub 2015 Dec 24.

13.

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.

Mannini L, Cucco F, Quarantotti V, Amato C, Tinti M, Tana L, Frattini A, Delia D, Krantz ID, Jessberger R, Musio A.

Sci Rep. 2015 Dec 17;5:18472. doi: 10.1038/srep18472.

14.

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ.

Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25.

PMID:
26671848
15.

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, Deardoff MA.

Clin Genet. 2016 May;89(5):557-63. doi: 10.1111/cge.12716. Epub 2016 Jan 25.

PMID:
26663098
16.

Downregulation of SMC1A inhibits growth and increases apoptosis and chemosensitivity of colorectal cancer cells.

Li J, Feng W, Chen L, He J.

J Int Med Res. 2016 Feb;44(1):67-74. doi: 10.1177/0300060515600188. Epub 2015 Dec 3.

17.

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo IM, Krantz ID, Bilodeau S, Musio A.

Sci Rep. 2015 Nov 19;5:16803. doi: 10.1038/srep16803.

18.

Cross-linking immunoprecipitation-MS (xIP-MS): Topological Analysis of Chromatin-associated Protein Complexes Using Single Affinity Purification.

Makowski MM, Willems E, Jansen PW, Vermeulen M.

Mol Cell Proteomics. 2016 Mar;15(3):854-65. doi: 10.1074/mcp.M115.053082. Epub 2015 Nov 11.

19.

Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders.

Decroos C, Christianson NH, Gullett LE, Bowman CM, Christianson KE, Deardorff MA, Christianson DW.

Biochemistry. 2015 Oct 27;54(42):6501-13. doi: 10.1021/acs.biochem.5b00881. Epub 2015 Oct 14.

20.

Cohesin loss alters adult hematopoietic stem cell homeostasis, leading to myeloproliferative neoplasms.

Mullenders J, Aranda-Orgilles B, Lhoumaud P, Keller M, Pae J, Wang K, Kayembe C, Rocha PP, Raviram R, Gong Y, Premsrirut PK, Tsirigos A, Bonneau R, Skok JA, Cimmino L, Hoehn D, Aifantis I.

J Exp Med. 2015 Oct 19;212(11):1833-50. doi: 10.1084/jem.20151323. Epub 2015 Oct 5.

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