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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 4
1990 2
1991 1
1992 1
1993 1
1994 2
1995 3
1996 1
1997 1
1998 1
1999 2
2000 5
2001 1
2002 5
2003 7
2004 9
2005 3
2006 4
2007 3
2008 12
2009 6
2010 6
2011 9
2012 8
2013 5
2014 2
2015 6
2016 3
2017 4
2018 8
2019 6
2020 3
2021 4
2022 7
2023 6
2024 3

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PubMed for id: 831

147 results

Results by year

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Page 1
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC. Temel ŞG, et al. Cell Tissue Res. 2019 Nov;378(2):267-277. doi: 10.1007/s00441-019-03077-9. Epub 2019 Aug 7. Cell Tissue Res. 2019. PMID: 31392520
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
An association between the calpastatin (CAST) gene and keratoconus.
Li X, Bykhovskaya Y, Tang YG, Picornell Y, Haritunians T, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Cornea. 2013 May;32(5):696-701. doi: 10.1097/ICO.0b013e3182821c1c. Cornea. 2013. PMID: 23449483 Free PMC article.
147 results