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Li, V. FERMT1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5518 (accessed on 21 September 2026).
Li V. FERMT1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5518. Accessed September 21, 2026.
Li, Vivi. "FERMT1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5518 (accessed September 21, 2026).
Li, V. (2020, December 25). FERMT1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5518
Li, Vivi. "FERMT1 Gene." Encyclopedia. Web. 25 December, 2020.
FERMT1 Gene
Edit

Fermitin family member 1

genes

References

  1. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focalcontact protein, in the autosomal recessive skin fragility and photosensitivitydisorder, Kindler syndrome. J Invest Dermatol. 2004 Jan;122(1):78-83.
  2. Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J,Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome:extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011Nov;32(11):1204-12. doi: 10.1002/humu.21576.
  3. Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, Kurz T,Bruckner-Tuderman L, Has C. Induction of phenotype modifying cytokines by FERMT1 mutations. Hum Mutat. 2011 Apr;32(4):397-406. doi: 10.1002/humu.21449.
  4. Herz C, Aumailley M, Schulte C, Schlötzer-Schrehardt U, Bruckner-Tuderman L,Has C. Kindlin-1 is a phosphoprotein involved in regulation of polarity,proliferation, and motility of epidermal keratinocytes. J Biol Chem. 2006 Nov24;281(47):36082-90.
  5. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J,Lathrop M, Prud'homme JF, Fischer J. Identification of mutations in a new geneencoding a FERM family protein with a pleckstrin homology domain in Kindlersyndrome. Hum Mol Genet. 2003 Apr 15;12(8):925-35.
  6. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin. 2010Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013. Review.
  7. Margadant C, Kreft M, Zambruno G, Sonnenberg A. Kindlin-1 regulates integrindynamics and adhesion turnover. PLoS One. 2013 Jun 11;8(6):e65341. doi:10.1371/journal.pone.0065341. Print 2013.
  8. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R,Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, OgawaH, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F,Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegansactin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul;73(1):174-87.
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Update Date: 25 Dec 2020
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