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Links from Protein

Items: 5

1.
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang
BMC Med Genet. 2019; 20: 14. Published online 2019 Jan 14. doi: 10.1186/s12881-018-0725-3
PMCID:
PMC6332535
AbstractArticlePDF–1.0M
2.
A novel small deletion in the NHS gene associated with Nance-Horan syndrome
Huajin Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Shijing Wu, Ruifang Sui
Sci Rep. 2018; 8: 2398. Published online 2018 Feb 5. doi: 10.1038/s41598-018-20787-2
PMCID:
PMC5799206
AbstractArticlePDF–1.2M
3.
The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
Simon P. Brooks, Margherita Coccia, Hao R. Tang, Naheed Kanuga, Laura M. Machesky, Maryse Bailly, Michael E. Cheetham, Alison J. Hardcastle
Hum Mol Genet. 2010 Jun 15; 19(12): 2421–2432. Published online 2010 Mar 23. doi: 10.1093/hmg/ddq125
PMCID:
PMC2876887
AbstractArticlePDF–585K
4.
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.
D Stambolian, R A Lewis, K Buetow, A Bond, R Nussbaum
Am J Hum Genet. 1990 Jul; 47(1): 13–19.
PMCID:
PMC1683770
SummaryPage BrowsePDF–948K
5.
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, Jamie E. Craig
Am J Hum Genet. 2003 Nov; 73(5): 1120–1130. Published online 2003 Oct 16. doi: 10.1086/379381
PMCID:
PMC1180491
AbstractArticlePDF–903K

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