Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 23

1.

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.

Lee MK, Shaffer JR, Leslie EJ, Orlova E, Carlson JC, Feingold E, Marazita ML, Weinberg SM.

PLoS One. 2017 Apr 25;12(4):e0176566. doi: 10.1371/journal.pone.0176566. eCollection 2017.

2.

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC.

Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19. Review.

PMID:
28111185
3.

Refinement of the HIVAN1 Susceptibility Locus on Chr. 3A1-A3 via Generation of Sub-Congenic Strains.

Papeta N, Patel A, D'Agati VD, Gharavi AG.

PLoS One. 2016 Oct 13;11(10):e0163860. doi: 10.1371/journal.pone.0163860. eCollection 2016.

4.

Transcriptome Analysis of HepG2 Cells Expressing ORF3 from Swine Hepatitis E Virus to Determine the Effects of ORF3 on Host Cells.

Xu K, Guo S, Zhao T, Zhu H, Jiao H, Shi Q, Pang F, Li Y, Li G, Peng D, Nie X, Cheng Y, Wu K, Du L, Cui K, Zhang W, Wang F.

Biomed Res Int. 2016;2016:1648030. doi: 10.1155/2016/1648030. Epub 2016 Aug 28.

5.

Computational Modelling of NF-κB Activation by IL-1RI and Its Co-Receptor TILRR, Predicts a Role for Cytoskeletal Sequestration of IκBα in Inflammatory Signalling.

Rhodes DM, Smith SA, Holcombe M, Qwarnstrom EE.

PLoS One. 2015 Jun 25;10(6):e0129888. doi: 10.1371/journal.pone.0129888. eCollection 2015.

6.

FBN1 contributing to familial congenital diaphragmatic hernia.

Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA.

Am J Med Genet A. 2015 Apr;167A(4):831-6. doi: 10.1002/ajmg.a.36960. Epub 2015 Mar 3.

7.

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F.

J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3.

8.

Acquired resistance to metformin in breast cancer cells triggers transcriptome reprogramming toward a degradome-related metastatic stem-like profile.

Oliveras-Ferraros C, Vazquez-Martin A, Cuyàs E, Corominas-Faja B, Rodríguez-Gallego E, Fernández-Arroyo S, Martin-Castillo B, Joven J, Menendez JA.

Cell Cycle. 2014;13(7):1132-44. doi: 10.4161/cc.27982. Epub 2014 Feb 7.

9.

Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.

Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E.

Gene. 2014 Jan 1;533(1):403-10. doi: 10.1016/j.gene.2013.09.090. Epub 2013 Oct 2.

PMID:
24095780
10.

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A.

Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8.

11.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.

12.

Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.

Pitera JE, Woolf AS, Basson MA, Scambler PJ.

J Am Soc Nephrol. 2012 Nov;23(11):1790-6. doi: 10.1681/ASN.2012020146. Epub 2012 Oct 11.

13.

A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort.

Luo M, Sainsbury J, Tuff J, Lacap PA, Yuan XY, Hirbod T, Kimani J, Wachihi C, Ramdahin S, Bielawny T, Embree J, Broliden K, Ball TB, Plummer FA.

J Virol. 2012 Nov;86(21):11899-905. doi: 10.1128/JVI.01499-12. Epub 2012 Aug 22.

14.

Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.

Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W.

Genet Couns. 2012;23(2):201-6.

PMID:
22876578
15.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Mateo RK, Johnson R, Lehmann OJ.

Mol Vis. 2012;18:1301-11. Epub 2012 May 30.

16.

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

Meloni Vde F, Piazzon FB, Soares Mde F, Takeno SS, Christofolini DM, Kulikowski LD, Brunoni D, Melaragno MI.

Gene. 2012 Mar 15;496(1):59-62. doi: 10.1016/j.gene.2012.01.007. Epub 2012 Jan 20.

17.

Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.

Zhang X, Pino GM, Shephard F, Kiss-Toth E, Qwarnstrom EE.

J Biol Chem. 2012 Apr 6;287(15):12348-52. doi: 10.1074/jbc.C111.321711. Epub 2012 Jan 19.

18.

NF-κB and STAT3 cooperatively induce IL6 in starved cancer cells.

Yoon S, Woo SU, Kang JH, Kim K, Shin HJ, Gwak HS, Park S, Chwae YJ.

Oncogene. 2012 Jul 19;31(29):3467-81. doi: 10.1038/onc.2011.517. Epub 2011 Nov 21.

PMID:
22105366
19.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.

20.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.

Supplemental Content

Loading ...
Support Center