Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 45

1.

Functional analysis reveals that RBM10 mutations contribute to lung adenocarcinoma pathogenesis by deregulating splicing.

Zhao J, Sun Y, Huang Y, Song F, Huang Z, Bao Y, Zuo J, Saffen D, Shao Z, Liu W, Wang Y.

Sci Rep. 2017 Jan 16;7:40488. doi: 10.1038/srep40488.

2.

The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development.

Rodor J, FitzPatrick DR, Eyras E, Cáceres JF.

RNA Biol. 2017 Jan 2;14(1):45-57. doi: 10.1080/15476286.2016.1247148. Epub 2016 Oct 20.

3.

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Patton J, Brewer C, Chien W, Johnston JJ, Griffith AJ, Biesecker LG.

Eur J Hum Genet. 2016 Jan;25(1):147-149. doi: 10.1038/ejhg.2016.140. Epub 2016 Oct 19.

PMID:
27759032
4.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF.

Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6.

5.

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

Beck TF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG.

Clin Chem. 2016 Apr;62(4):647-54. doi: 10.1373/clinchem.2015.249623. Epub 2016 Feb 4.

6.

Src Family Tyrosine Kinase Signaling Regulates FilGAP through Association with RBM10.

Yamada H, Tsutsumi K, Nakazawa Y, Shibagaki Y, Hattori S, Ohta Y.

PLoS One. 2016 Jan 11;11(1):e0146593. doi: 10.1371/journal.pone.0146593. eCollection 2016.

7.

Nuclear Magnetic Resonance Structure of a Novel Globular Domain in RBM10 Containing OCRE, the Octamer Repeat Sequence Motif.

Martin BT, Serrano P, Geralt M, Wüthrich K.

Structure. 2016 Jan 5;24(1):158-64. doi: 10.1016/j.str.2015.10.029. Epub 2015 Dec 17.

8.

Post-transcriptional regulation of Rbm5 expression in undifferentiated H9c2 myoblasts.

Loiselle JJ, Tessier SJ, Sutherland LC.

In Vitro Cell Dev Biol Anim. 2016 Mar;52(3):327-36. doi: 10.1007/s11626-015-9976-x. Epub 2015 Dec 10.

9.

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M.

Mol Genet Genomic Med. 2015 Sep;3(5):424-32. doi: 10.1002/mgg3.153. Epub 2015 May 6.

10.

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Saldana-Caboverde A, Perera EM, Watkins-Chow DE, Hansen NF, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Pavan WJ, Kos L.

Dev Biol. 2015 Nov 15;407(2):300-12. doi: 10.1016/j.ydbio.2015.04.012. Epub 2015 Apr 23.

11.

Insight into the role of alternative splicing within the RBM10v1 exon 10 tandem donor site.

Tessier SJ, Loiselle JJ, McBain A, Pullen C, Koenderink BW, Roy JG, Sutherland LC.

BMC Res Notes. 2015 Feb 19;8:46. doi: 10.1186/s13104-015-0983-5.

12.

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF.

Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8.

13.

Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Gerstberger S, Hafner M, Ascano M, Tuschl T.

Adv Exp Med Biol. 2014;825:1-55. doi: 10.1007/978-1-4939-1221-6_1. Review.

14.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

15.

Rbm24a and Rbm24b are required for normal somitogenesis.

Maragh S, Miller RA, Bessling SL, Wang G, Hook PW, McCallion AS.

PLoS One. 2014 Aug 29;9(8):e105460. doi: 10.1371/journal.pone.0105460. eCollection 2014.

16.

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Trakadis YJ, Buote C, Therriault JF, Jacques PÉ, Larochelle H, Lévesque S.

BMC Med Genomics. 2014 May 12;7:22. doi: 10.1186/1755-8794-7-22.

17.

Genetic basis of congenital cardiovascular malformations.

Lalani SR, Belmont JW.

Eur J Med Genet. 2014 Aug;57(8):402-13. doi: 10.1016/j.ejmg.2014.04.010. Epub 2014 Apr 30. Review.

18.

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG.

Am J Med Genet A. 2014 Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212. Epub 2013 Nov 20.

19.

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation.

Wang Y, Gogol-Döring A, Hu H, Fröhler S, Ma Y, Jens M, Maaskola J, Murakawa Y, Quedenau C, Landthaler M, Kalscheuer V, Wieczorek D, Wang Y, Hu Y, Chen W.

EMBO Mol Med. 2013 Sep;5(9):1431-42. doi: 10.1002/emmm.201302663. Epub 2013 Aug 22.

20.

RNA binding proteins in the regulation of heart development.

Blech-Hermoni Y, Ladd AN.

Int J Biochem Cell Biol. 2013 Nov;45(11):2467-78. doi: 10.1016/j.biocel.2013.08.008. Epub 2013 Aug 20. Review. Erratum in: Int J Biochem Cell Biol. 2014 Oct;55:348.

Supplemental Content

Support Center