Torban E - Search Results

1

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Barrell WB, Adel Al-Lami H, Goos JAC, Swagemakers SMA, van Dooren M, Torban E, van der Spek PJ, Mathijssen IMJ, Liu KJ. Barrell WB, et al. Among authors: torban e. Eur J Hum Genet. 2022 Mar;30(3):282-290. doi: 10.1038/s41431-021-00988-6. Epub 2021 Nov 1. Eur J Hum Genet. 2022. PMID: 34719684 Free PMC article.

2

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E. Seo JH, et al. Among authors: torban e. Hum Mol Genet. 2011 Nov 15;20(22):4324-33. doi: 10.1093/hmg/ddr359. Epub 2011 Aug 12. Hum Mol Genet. 2011. PMID: 21840926

3

The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.

Sharma R, Kalot R, Levin Y, Babayeva S, Kachurina N, Chung CF, Liu KJ, Bouchard M, Torban E. Sharma R, et al. Among authors: torban e. Development. 2024 Mar 15;151(6):dev202322. doi: 10.1242/dev.202322. Epub 2024 Mar 28. Development. 2024. PMID: 38546045 Free PMC article.

4

The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium.

Zilber Y, Babayeva S, Seo JH, Liu JJ, Mootin S, Torban E. Zilber Y, et al. Among authors: torban e. Mol Biol Cell. 2013 Mar;24(5):555-65. doi: 10.1091/mbc.E12-06-0437. Epub 2013 Jan 9. Mol Biol Cell. 2013. PMID: 23303251 Free PMC article.

5

Mutations in VANGL1 associated with neural-tube defects.

Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P. Kibar Z, et al. Among authors: torban e. N Engl J Med. 2007 Apr 5;356(14):1432-7. doi: 10.1056/NEJMoa060651. N Engl J Med. 2007. PMID: 17409324 Free article.

6

Planar cell polarity pathway regulates actin rearrangement, cell shape, motility, and nephrin distribution in podocytes.

Babayeva S, Zilber Y, Torban E. Babayeva S, et al. Among authors: torban e. Am J Physiol Renal Physiol. 2011 Feb;300(2):F549-60. doi: 10.1152/ajprenal.00566.2009. Epub 2010 Jun 9. Am J Physiol Renal Physiol. 2011. PMID: 20534871 Free article.

7

Primary cilia and actin regulatory pathways in renal ciliopathies.

Kalot R, Sentell Z, Kitzler TM, Torban E. Kalot R, et al. Among authors: torban e. Front Nephrol. 2024 Jan 16;3:1331847. doi: 10.3389/fneph.2023.1331847. eCollection 2023. Front Nephrol. 2024. PMID: 38292052 Free PMC article. Review.

8

Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.

Wang IY, Chung CF, Babayeva S, Sogomonian T, Torban E. Wang IY, et al. Among authors: torban e. J Dev Biol. 2021 Dec 23;10(1):1. doi: 10.3390/jdb10010001. J Dev Biol. 2021. PMID: 35076510 Free PMC article.

9

Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family.

Torban E, Wang HJ, Groulx N, Gros P. Torban E, et al. J Biol Chem. 2004 Dec 10;279(50):52703-13. doi: 10.1074/jbc.M408675200. Epub 2004 Sep 29. J Biol Chem. 2004. PMID: 15456783 Free article.

10

Van Gogh-like2 (Strabismus) and its role in planar cell polarity and convergent extension in vertebrates.

Torban E, Kor C, Gros P. Torban E, et al. Trends Genet. 2004 Nov;20(11):570-7. doi: 10.1016/j.tig.2004.09.003. Trends Genet. 2004. PMID: 15475117 Review.

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